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21st century medicine helps Amish deal with rare, inherited illnesses – University of Wisconsin-Madison

James DeLine founded the Center for Special Children in La Farge to attend to the particular health needs of the Amish and Old Order Mennonite families in Wisconsin. The Center exists within the La Farge Medical Clinic, also started by DeLine, which is part of Vernon Memorial Health Care. Photo by David Tenenbaum

Editors note: A recent article in the Milwaukee Journal Sentinel reported on Dr. James DeLines work with the Wisconsin Amish community. This story describes how UWMadison and the Wisconsin Partnership Fund are helping the effort.

LA FARGE, Wisconsin There is no car in the driveway, neither phone nor electricity in the house. Handmade clothes dry on the line.

Its fall 2018, and La Farge physician James DeLine has brought us to talk with Barbara and Daniel Hochstetler, part of the large Amish population in Wisconsins Driftless Region.

Six of their 11 children live with siterosterolemia, an extremely rare disease that can cause joint damage, stroke or heart attack, due to accumulations of a plant-based fat akin to cholesterol.

DeLine has practiced family medicine in La Farge since 1983. In 2015 he started the Center for Special Children to care for Wisconsins large concentration of Amish or Old Order Mennonite people.

Rural doctors pride themselves on being able to treat a wide range of conditions in their patients, but DeLines practice brings him face to face with several rare genetic conditions that were present when the Amish and Mennonites immigrated from Europe to America and then Wisconsin.

And that, in turn, has brought DeLine into a close collaboration with specialists at the University of WisconsinMadison who have developed tests, and suggested treatments, for some of those conditions, including siterosterolemia.

Amish and Mennonite families avoid technologies that, they feel, would endanger the social cohesion that is key to their survival. Thus they do not own motor vehicles or use telephones or electricity in the home. Photo by David Tenenbaum

In quiet voices, DeLine and the Hochstetler parents recounted how they learned that the family carried a gene for the rare disease. Years previously, their son, Perry, had been seen at the La Farge clinic with painful arthritis and large lumps in his limbs. Later, when we discovered that a relative of his mother had sitosterolemia, DeLine explained, we thought back to this young man and with some searching, we found him, had gene testing done at UWMadison, and discovered that he too had the disease.

After starting medicine and changing his diet, Perrys elbow lumps began melting away, DeLine said. He has had no further arthritis, and his exercise tolerance has improved.

Eventually, with genetic testing at UWMadison, the mutation was diagnosed in six of the 11 Hochstetler children. Only then did Daniel volunteer that he had heart pain (likely just age catching up with me) during heavy exertion, was actually caused by a buildup of plaque in his heart arteries. After starting the same drug as his children, Daniel has improved, though he said he can still feel it once in a while if I exert myself.

DeLine has become an expert in the culture, family relationships, and medical needs of the Amish and Old Order Mennonites (sometimes called the Plain people).

Although their acceptance of technology is highly constricted by culture and religion, the Plain benefit from DeLines hybrid of 19th century rural doctoring with 21st century genetic medicine.

Chris Seroogy, professor of pediatrics at UWMadison, is a long-time collaborator in the effort to bring 21st century health care to Wisconsins Plain populations. Photo by Robert C. Thayer

The genetic work has relied on clinicians from the School of Medicine and Public Health, and on testing at the State Laboratory of Hygiene, both at UWMadison. The State Lab has already developed fast, low-cost diagnostic tests for more than 30 conditions afflicting Plain populations in Wisconsin.

Vanessa Horner, director of cytogenetic services and molecular genetics at the State Lab, said that once a test has been developed and validated, it becomes a clinical assay that must be performed in a certified laboratory such as hers. Its a highly regulated, rigorous testing environment.

Funding for these tests and related activities came from grants totaling $800,000 from the Wisconsin Partnership Program in the School of Medicine and Public Health. Addressing the health care needs of Wisconsin communities is a priority for the Wisconsin Partnership Program, said Richard Moss, chair of the partnership education and research committee.

This teams innovative and successful community-engaged research has resulted in increased newborn screenings and affordable genetic testing that have the potential to spare our states Plain families from fatal medical conditions and costly hospitalizations, added Moss, senior associate dean for basic research, biotechnology and graduate studies.

One newborn screening test created at UWMadison, for example, detectsmaple-syrup urine disease, whichprevents the normal breakdown of certain amino acids from food. Then, toxic byproducts attack the brain and other organsimmediately after birth.

According to Mei Baker, co-director of newborn screening at the State Laboratory of Hygiene, which developed the test, We make special arrangements for lab testing beyond regular working hours. The midwife collects a blood sample and a hired driver delivers it immediately to our lab. Six or eight hours after birth, we have the result, and the clinicians at Waisman Center advise the parents on an appropriate formula to avoid the symptoms.This service is free of charge, and you cannot do any better than that.

This team hauls logs and saw timber at the Hershberger family sawmill outside La Farge, Wisconsin. Photo by David Tenenbaum

Genetic diseases among the Plain arise from founder mutations that were present in the few Amish and Old Order Mennonites who immigrated to America in the 19th century. A second genetic bottleneck occurred among smaller groups that moved to Wisconsin, starting about a century ago.

Most of the genetic diseases he sees can be treated if not cured, DeLine said.

DeLines long and deep experience with many Amish families, and his anthropological knowledge of family relationships are part of his doctors toolkit.

So are home visits.

He talks about how helpful it is to see a child in the home environment, surrounded by siblings, grandparents, parents, said Christine Seroogy, a professor of pediatrics. Seroogy is one of several UWMadison colleagues who provide outreach clinical services with the Center for Special Children. Its been quite an experience, an honor, to take part in those home visits.

The characteristic homemade clothes of an Amish family hang just inside the back door. Photo by David Tenenbaum

Home visits were not part of my medical training, but its how doctors used to practice, and Jim DeLine still does, she added.

When Seroogy began working with DeLine in 2007, one focus was severe combined immune deficiency (SCID, or bubble boy) disease. Though fatal, SCID can be detected with newborn screening and in some cases treated with bone marrow transplant. Over the years, she has worked closely with DeLine, newborn screening experts at the State Laboratory of Hygiene, and Plain families to improve SCID diagnosis and treatment.

In many cases, a true diagnosis can keep patients out of hospitals and away from physicians who tend to order an endless series of costly tests that cause more trouble than healing.

When we must deliver news about a child with a lethal disorder, DeLine said, if the family knows whats going on, sad though it is, its a gift to the family to take the child home and care for them surrounded by their community and their family.

Its hard to treat something you dont recognize, understand, DeLine added. Each time a new condition is identified, the search for a cure can begin.

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21st century medicine helps Amish deal with rare, inherited illnesses - University of Wisconsin-Madison

Research presented by Invitae at the American Society of Human Genetics Meeting Pushes Science and Practice of Genetics Forward – P&T Community

HOUSTON, Oct. 17, 2019 /PRNewswire/ -- Researchers fromInvitae Corporation (NYSE: NVTA), a leading medical genetics company, are presenting data showing the increasing utility of genetic information at the American Society of Human Genetics (ASHG) annual meeting this week, ranging from comprehensive screening for cancer patients, to appropriate clinical follow up for women using non-invasive prenatal screening, to the limitations of direct to consumer genetic screening health reports.

The company's research includes three platform presentations and multiple poster sessions, many performed in collaboration with leading academic researchers. Among the data presented is a study evaluating the utility of combined germline testing and tumor profiling (somatic testing) in cancer patients. Germline and somatic testing are increasingly used in precision treatment of people with cancer, although frequently are ordered separately in clinical practice. Data presented at the meeting shows a substantial number of patients with medically significant variants in hereditary cancer syndrome genes in their tumor profile carry the same variant in their germline, thereby establishing a previously unknown risk of hereditary cancer and suggesting the value of combined or concurrent testing to inform precision medicine approaches.

"The research we are presenting at this year's ASHG meeting provides meaningful insight into both the science and practice of genetics, helping identify how we as clinicians can better use deep genetic insights to help a wide array of patients, whether they are cancer patients, women having a child or healthy adults seeking to better understand their risk of disease," said Robert Nussbaum, M.D., chief medical officer of Invitae. "We are proud and grateful to be able to join our colleagues from across genetic medicine in meaningful conversations that push genetic medicine forward."

Following are research from the company and collaborators to be presented at the meeting:

Wednesday, October 16:

Poster presentation #819W | 2:00 3:00 pm Germline testing in colorectal cancer: Increased yield and precision therapy implications of comprehensive multigene panels. Presented by Shan Yang, PhD. Invitae.

Poster presentation #2427W | 2:00 3:00 pm Harmonizing tumor sequencing with germline genetic testing: identification of at-risk individuals for hereditary cancer disorders. Presented by Daniel Pineda-Alvarez, MD, FACMG, Invitae.

Poster presentation #606W | 3:00 4:00 pm A comprehensive evaluation of the importance of prenatal diagnostic testing in the era of increased utilization of non-invasive prenatal screening. Presented by Jenna Guiltinan, MS, LCGC, Invitae.

Thursday, October 17:

Platform presentation #235 | 5:00 pm, Room 370A, Level 3 Limitations of direct-to-consumer genetic screening for hereditary breast, ovarian and colorectal cancer risk. Presented by: Edward Esplin, MD, PhD, FACMG, FACP, Invitae.

Poster presentation #763T | 2:00 3:00 pm In-depth dissection of APC pathogenic variants: Spectrum of more than 400 pathogenic variants, challenges of variant interpretation, and new observations in a large clinical laboratory testing cohort. Presented by: Hio Chung Kang, PhD, Invitae.

Poster presentation #1399T | 2:00 3:00 pm Prediction of lethality and severity of osteogenesis imperfecta variants in the triple-helix regions of COL1A1 and COL1A2. Presented by: Vikas Pejaver, PhD, University of Washington.

Friday, October 18:

Platform presentation #264 | 9:00 am, Room 361D, Level 3 Million Veteran Program Return Of Actionable Results - Familial Hypercholesterolemia (MVP-ROAR-FH) Study: Considerations for variant return to mega-biobank participants. Presented by Jason Vassy, MD, MPH, VA, Boston Healthcare System.

Platform presentation #265 | 9:15 am, Room 361D, Level 3 Comprehensive secondary findings analysis of parental samples submitted for exome evaluation yields a high positive rate. Presented by Eden Haverfield, DPhil, FACMG, Invitae.

Poster presentation #698F | 2:00 3:00 pm Reporting of variants in genes with limited, disputed, or no evidence for a Mendelian condition among GenomeConnect participants. Presented by: Juliann Savatt, MS, LGC, Geisinger.

About InvitaeInvitae Corporation(NYSE: NVTA)is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

Safe Harbor StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the increasing utility of genetic information; the utility of combined germline and somatic testing; and the benefits of the company's research. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the applicability of clinical results to actual outcomes; the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended June 30, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelopr@invitae.com(628) 213-3283

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Genetic Tests For Psychiatric Drugs Now Covered By Some Insurers : Shots – Health News – NPR

Myriad Genetics is among a handful of companies that make a genetic test to help doctors choose psychiatric medicines for patients. Evidence that the tests are effective has been called "inconclusive." Myriad Genetics hide caption

Myriad Genetics is among a handful of companies that make a genetic test to help doctors choose psychiatric medicines for patients. Evidence that the tests are effective has been called "inconclusive."

As a teenager, Katie Gruman was prescribed one mental health drug after another. None seemed to help her manage symptoms of anxiety and bipolar disorder, so she self-medicated with alcohol and illicit drugs.

It would take five years, and trying more than 15 different medications, before she found meds that actually helped.

Now 28 and in recovery, Gruman has been on the same drugs for years. But when a clinician recommended a genetic test to see which drugs work best for her, she took it.

Reading the test results "was definitely vindicating," she says. Medications that hadn't worked for her as a teenager were the same ones the results marked as bad fits.

She says she wishes she had taken the test as a teenager. "I could have avoided a lot of disaster in my life," she says.

Psychiatric medications are known to be hard to match to symptoms, and many patients like Gruman live through years of trial and error with their doctors.

Companies that make genetic tests like the one Gruman used say they can save patients and doctors from prolonged searching for the right medication and save insurance companies from paying for ineffective drugs. But many researchers say the tests don't have enough evidence backing them up. The Food and Drug Administration has warned that the tests could potentially steer patients towards the wrong medications. Nonetheless, UnitedHealthcare, the nation's largest insurer, began covering them October 1 for its 27 million individual and group plans.

Test makers hailed the announcement of United's coverage, the first from an insurance company to apply to all of its commercial plans across the country.

"We expect this to be a tipping point," says Shawn Patrick O'Brien, CEO of Genomind, a company that makes one of the tests. Other insurers will cover the tests "because they don't want to be uncompetitive in the marketplace," he predicts.

If the prediction is correct, it would likely fuel a market that has seen its largest test maker, Myriad Genetics, sell about 375,000 of its psychiatric medicine tests in the 2019 fiscal year, according to Jack Meehan, an industry analyst for Barclays. Myriad reported that it sold $113 million worth of the tests.

In addition to UnitedHealthcare's coverage, Myriad Genetics' test is covered by Medicare, a regional Blue Cross Blue Shield affiliate, and the insurance network for the grocery chain Kroger, a spokesperson says.

Genomind has discussed coverage with insurers including Anthem and Blue Cross Blue Shield, O'Brien says.

Debates over efficacy

As the field of genetic testing to help diagnose and treat disease grows, medicine has embraced certain tests, such as that for the BRCA gene linked to breast cancer. But many researchers say there is not enough evidence tying genetic variants to better outcomes for most psychiatric medications.

James Potash, the head of psychiatry at Johns Hopkins Medicine and an expert on psychiatric genetics, says of all the tests claiming to improve depression treatment, GeneSight's has the most proof. That isn't saying much, though.

"I wouldn't say there's no evidence that it works," he says. "It's just the evidence at this point is still weak."

The idea behind the tests is that in some cases, people can have different reactions to the same drug, even at the same dose, because they have different gene variants. Which variant a person has can affect how quickly or slowly a medicine moves through their body.

This link between genes and drug metabolism has been known for decades, says Francis McMahon, who leads genetic research into mood and anxiety disorders at the National Institutes for Mental Health.

Usually, the longer it takes your body to process a drug, the easier it is for that medication to have an effect. But in psychiatry, McMahon says, how fast someone processes a drug, or metabolizes it, and how well they respond to the drug "are sometimes not strongly related."

This skepticism is shared by some insurance companies. "Anthem considers these tests investigational and not medically necessary," says a spokesman for the carrier, which covers 41 million people. The Blue Cross Blue Shield Federal Employee Program, which covers about two-thirds of government workers and their families, said "there is not enough evidence at this time to determine the effect of genetic testing on health outcomes," according to a spokeswoman.

Test makers are also facing FDA objections that they haven't proven some of the claims underpinning genetic tests for medications, including that antidepressants work better with some gene variants.

"Changing drug treatment based on the results from such a genetic test could lead to inappropriate treatment decisions and potentially serious health consequences for the patient," the agency warned in late 2018. It told companies to stop naming specific drugs, in marketing materials or test results, for which its tests "claim to predict a patient's response" without "scientific or clinical evidence to support this use."

Most test makers complied. One, Inova Genomics Laboratory, stopped selling a range of tests, including its test for mental health disorders, after the FDA followed up with a warning letter in April.

Several mental health advocacy groups, including the National Alliance on Mental Illness, have sided with test makers in their dispute with the FDA. Keeping the names and types of medication off of genetic test reports, as the FDA has required, will "impede the ability of psychiatrists and other front-line health care professionals to personalize medication decisions" for patients with depression, the groups wrote the FDA in September.

Some have argued that genetic tests like these shouldn't be regulated by the FDA at all. Tests conducted in a lab are a medical service, not a medical device that's shipped like a product, says Vicky Pratt, president of the Association for Molecular Pathology. As a medical service, she says, clinical laboratories are already regulated by the Centers for Medicare and Medicaid Services.

"It would be redundant to have dual regulation by both the FDA and CMS," says Pratt.

Cost-benefit analysis

Research into the tests' efficacy is ongoing and continues to be debated.

Myriad hoped to bolster evidence for its test, GeneSight, in a study it funded that was published this year in the Journal of Psychiatric Research, but the results were mixed.

In the study, doctors used genetic tests to help prescribe medications for one group of patients with depression, while another group of patients received usual care. There was overall no difference between the groups in the study's primary measure of symptom improvement, though some patients showed improved response and remission rates.

Responding to criticisms of its clinical trial results, Myriad Genetics spokesman Ron Rogers says the trial population whose average participant had tried more than three unsuccessful medications for depression was uniquely difficult to treat. He says he expects to see stronger outcomes in a forthcoming review of the trial data.

In a statement on the use of genetic testing in psychiatry, the International Society of Psychiatric Genetics, calls the existing evidence "inconclusive," and notes that if 12 patients take such a test for antidepressants, just one will benefit from it.

A low rate of success means insurers will have to pay for a lot of tests for one useful result, says Barclays analyst Meehan. Meehan pointed to a letter about the recent GeneSight study that was published in the same journal, which found that 20 patients would need to take the test for one to recover as a result. At $2,000 for a GeneSight test, the authors wrote, that means patients and insurers would have to cover $40,000 worth of tests. (While competitor Genomind does not share pricing information, a spokeswoman confirmed that it has an active contract with the Department of Veterans to supply tests for $1,886.)

Still some clinicians value the tests. Skeptics often misunderstand how the tests should be used, argues Daniel Mueller, a professor at the University of Toronto who researches how genes and drugs interact. (Mueller is involved in research comparing Myriad's GeneSight to another test developed by a University of Toronto-affiliated hospital.) Most of the time, he says, doctors who order the test already plan to prescribe medication. The test is just another tool to help them decide which one to prescribe.

"It's not an alternative intervention," Mueller says. "It's additional information." He orders the test for most patients who do not respond to at least one antidepressant.

"If you think about the cost of depression and weeks of suffering that you can potentially avoid for some patients," Mueller says, he thinks anyone who can afford a test should take it. (Myriad says 95% of patients pay less than $330 for their test, the cost remaining after insurance and possible financial assistance; Genomind says most privately insured customers pay no more than $325.)

A lack of watertight evidence for the tests should not stop doctors from using it to inform their choice of medication, says Reyna Taylor, who leads public policy for the National Council for Behavioral Health, one of the advocacy groups that defended the tests in a letter to the FDA. "You use the science that you currently have," she says.

"Whether our providers choose to use [a genetic test] or not, we want them to have that choice," she adds.

Disagreement among experts hasn't dissuaded UnitedHealthcare from paying for the tests.

In a statement, UnitedHealthcare spokeswoman Tracey Lempner says they "frequently review our coverage policies to ensure they reflect the most current published evidence-based medicine and specialty society recommendations."

Graison Dangor is a journalist in Brooklyn.

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Genetic Tests For Psychiatric Drugs Now Covered By Some Insurers : Shots - Health News - NPR

How Artifical Intelligence Is Advancing Precision Medicine – Forbes

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Artificial intelligence and machine learning have been utilized for years in the field of healthcare and continue to grow tremendously each year with its ability to advance medicine and discoveries in the industry.

The term precision medicine, sometimes referred to as personalized medicine, is a relatively new term in the healthcare field but the idea has been around for many years in the industry. According to the U.S. National Library of Medicine, precision medicine is "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person."

Precision medicine helps physicians determine more personalized treatments for patients considering individualized approaches instead of a blanketed approach for all patients. They do this by looking at a patients genetic history, location, environmental factors, lifestyle and habits to determine a plan of action for treatment.

With artificial intelligence, it takes precision medicine to the next level and increases the accuracy and prediction of outcome for patients. Some actually believe that precision medicine is not completely possible without the addition of machine learning algorithms to assist in the process.

In a report from Chilmark Research, it states that to achieve the full potential of precision medicine it must be accompanied by machine learning and artificial intelligence due to the deep learning technology and ability to analyze large data sets faster than clinicians and medical researchers.

Not only can AI read and analyze large sets of medical data much faster than a human, it can more accurately determine results to come to conclusions about a patients treatment options and possible outcomes of the treatment.

With AI, the ability to not only predict outcomes but also be able to predict future patients probability of having diseases is a major benefit for precision medicine. By better understanding why diseases may occur and in what environments they are more likely to occur, artificial intelligence can help in the education of medical professionals to know what to look for before a disease is showing symptoms. To be able to evaluate the risk of disease in patient populations is revolutionary for healthcare and the lives of many.

Machine learning can also help improve FDA regulations of tests, drugs and pharmaceutical partnerships to help support treatments. Fully achieving precision medicine effectively takes a collaboration of pharmaceutical companies, biotechs, academia, diagnostic companies and others to drive innovation forward.

Amplion, a leading precision medicine intelligence company, recently released Dx:Revenue, a software intelligence platform that uses machine learning to deliver insights into pharmaceutical partnerships.

The platform uses over 34 million data sources from clinical trials, scientific publications, conference abstracts, FDA approved tests, lab tests, and other information to match a test providers capabilities to pharmas specific needs.

This is particularly important in cancer, where were moving away from the one-size-fits-all approach to care toward a more targeted approach with treatments based on the biological characteristics of each patient, said CEO of Amplion Chris Capdevlia. Personalizing our approach to healthcare in this way not only results in better outcomes for patients, it also drives down drug development costs through shorter, more successful trials and reduces time to market for valuable drugs all very good news for better patient outcomes.

Precision medicine can truly improve the lives, and even save the lives, of many people and the use of artificial intelligence can increase those outcomes drastically. It can also make treatments more affordable and accessible to those who may not be able to receive those treatments due to cost and health insurance at this time. There are many challenges ahead for precision medicine to be perfect, but artificial intelligence can help drive us closer to those goals.

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Ochsner Health System teaming up with Color on population health pilot – FierceHealthcare

Louisiana-based Ochsner Health System is partnering with Color to launch a population health pilot program, tyinggenetic information into preventive care.

Calling it the first "fully-digital population health program," Ochsner will work with the health technology company to incorporateclinical genomics into primarycare with a focuson impacting patients' health further downstream.

Developed by Ochsners innovation lab, innovationOchsner (iO), the health systems program willidentify patients who are at higher risk for certain hereditary cancers and heart disease so these diseases can be detected early or prevented.

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This marks another big partnership for Color this year. The company inked a similar collaboration with Chicago-based NorthShore University HealthSystem, called DNA10K, that will provide more than10,000 NorthShore patients access to Colors clinical-grade genetic testing and whole genome sequencing.Atthe time, it was touted as the largest primary care genomics program in the U.S.

RELATED:Mount Sinai to launch $100M center dedicated to AI, precision medicine

Physician practices are beginning to incorporate genomics into primary care as well.Murfreesboro Medical Clinic and SurgiCenter in Tennessee are working with technology company2bPrecise, a subsidiary of health IT company Allscripts, to integrate pharmacogenomic testresults at the point of care.

In August, Color was awarded a $4.6 million grant by the National Institutes of Health to serve as the nationwide genetic counseling service for its All of Us Research Program.

With this pilot program, Ochsner is focused on screening patients with genetic mutations that put them at increased risk for three conditionshereditary breast and ovarian cancer syndrome due to genetic mutations in the BRCA1 and BRCA2 genes; Lynch syndrome,associated with increased risk in colorectal, endometrial, ovarian and other cancers; and familial hypercholesterolemia (FH), which increases the risk for heart disease or stroke.

The Centers for Disease Control and Prevention reports thatnearly 2 million people in the U.S. are at increased risk for adverse health outcomes because they have genetic mutations with one of thosethree conditions.

Genetic screening can make a meaningful difference to patients through early detection and screening. Most consumers have access to home genetic screening tests but may not have the tools, resources, and collaboration needed to take action should they receive questionable results, said Richard Milani, M.D., chief clinical transformation officer for the Ochsner Health System and medical director for iO.

RELATED:How a Nashville-area clinic teamed up with Allscripts on precision medicine

Ochsner provides patient care across40 owned, managed and affiliated hospitals and specialty hospitals and more than 100 health centers and urgent care centers.The partnership will combine Colors capabilities inmedical-grade genetics, clinical services and patient engagement and the health system's experience withpersonalized medicineand integrating it into routine patient care, the organizations said in a press release.

As part of the program, selected patients will be enrolled into the program digitally and will receive access to genetic testing and counseling.Genetic testing results will bestored in the patients Epic electronic health record so patients and providers have access to the genetic information.

RELATED:UCLA Health deploys Microsoft Azure to accelerate medical research, precision medicine at the point of care

Ochsner also has developed clinical decision support tools and a robust provider education program for both primary care and specialty providers to integrate into clinical practice.

New technology tools like clinical genomics will enableOchsner physicians to better understand individualized risk among its patient population and create action plans that can detect or prevent disease, according to the health system.

We know there are many factors that influence health, and genetic insights provide an additional data point to allow us to develop and deliver a more personalized approach in partnership with our patients," Milani said.

"Integrating this information into the patients electronic health record so doctors can review the results and discuss proactive treatment recommendations is yet another example of how we are reengineering care, informing smarter decisions by healthcare providers and empowering patients to become more involved in their health," he said.

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Scientists at Wake Forest School of Medicine Identify Genetic Variation Linked to Severity of ALS – Newswise

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Neurology Neuroimmunology & Neuroinflammation, Oct-2019

Newswise WINSTON-SALEM, N.C. Oct. 16, 2019 A discovery made several years ago in a lab researching asthma at Wake Forest School of Medicine may now have implications for the treatment of amyotrophic lateral sclerosis (ALS), a disease with no known cure and only two FDA-approved drugs to treat its progression and severity.

A study published in the current edition of the journal Neurology Neuroimmunology & Neuroinflammation showed that ALS patients with a commonly inherited genetic variation or polymorphism in the interleukin 6 (IL6) receptor gene may experience more severe symptoms and faster progression of the disease.

This relationship was first identified in asthma patients in 2012 by Gregory A. Hawkins, Ph.D., and co-workers at Wake Forest School of Medicine, part of Wake Forest Baptist Health. He found that people who had asthma and this inherited trait got more severe asthma than those who didnt.

We knew that interlukin 6 had many functions in the lung, as shown in asthma, but also in muscle and nerves, all three of which are affected in ALS, said Carol Milligan, Ph.D., professor of neurobiology and anatomy at Wake Forest School of Medicine and senior author of the study. Therefore we wondered if what they found in asthma may also have a role in ALS patients or maybe explain why the disease progressed faster in some patients but not others.

ALS, also known as Lou Gehrigs disease, is a disease that causes the death of neurons that control voluntary muscles. As voluntary muscle action is progressively affected, people may lose the ability to speak, eat, move and breathe.

To further an understanding of the factors that influence ALS progression and severity, Milligan and her team conducted an observational, case-controlled retrospective study of two groups of people.

The researchers examined blood and spinal fluid samples, provided by the Northeastern ALS Consortium Biofluid Repository, from 47 participants with ALS and 46 healthy people. Results confirmed that samples from people with ALS who had the variation in the IL6 receptor gene accounted for increased levels of IL6 in blood and spinal fluid compared to the control groups.

To examine if presence of the variation in the IL6 receptor gene might affect disease progression, the investigators examined a second group of 35 patients from the Wake Forest Baptist ALS Center Biorepository that included clinical data collected within a year of symptom onset. The researchers compared the progression of the disease between those who had the polymorphism and those who didnt. In those with the genetic variation, the disease progressed faster.

This study is the first to show that this polymorphism may modify the course of ALS, Milligan said. We hope that our findings may provide a target for a new treatment and lay the groundwork for future clinical trials.

The study was spear-headed by Marlena Wosiski-Kuhn, a M.D./Ph.D. student at Wake Forest School of Medicine, and included members of the ALS center and Departments of Biochemistry, Neurology and Neurobiology and Anatomy at Wake Forest School of Medicine.

Support for the study was provided by Hope for Tomorrow, a gift in the memory of Murray Sherman, the Wake Forest Baptist Health Brian White Fund and the Tab A. Williams Funds at Wake Forest School of Medicine.

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Scientists at Wake Forest School of Medicine Identify Genetic Variation Linked to Severity of ALS - Newswise

100 Health Summit: How to Make Research Better | Time.com – TIME

Behind any landmark cure is years of medical research. But the old goal of research to find a one-size-fits-all treatment for a disease, based on a set of standard protocols must radically change to further and diversify advances in the field, experts argued at the TIME 100 Health Summit on Thursday.

Sean Parker, an entrepreneur and founder of the Parker Institute for Cancer Immunotherapy, came to the complex world of biotech, life sciences and health care research as an outsider. (Parker co-founded Napster and was the first president of Facebook.) It seemed like there was tremendous opportunity. The field looked and felt a lot like the early Internet, he explained at the summit.

There was a lot of similarity in terms of enthusiasm and excitement and breakthroughs and yet there were these inherent systemic obstacles that felt like they were slowing down progress," Parker said. The cost of enrolling a patient in a clinical trial, for instance, can be extraordinarily high, and researchers focused on similar treatment goals often work separately from one another without sharing data. The Parker Institutes goal is to connect cancer doctors, share information among researchers and accelerate new treatments. Work at the Parker Institute has led to the first approved gene immunotherapy for blood cancers and Nobel Prize-winning immune-based cancer drugs.

Were all in it, at the end of the day, for our patients, said Dr. Laura Esserman, professor of surgery at the University of California, San Francisco School of Medicine. We want to get people to a better outcome." In the field of breast cancer, for example, the same cancer screening and treatment guidelines have traditionally been applied across the board. But people have different genetic profiles and risk factors, necessitating a range of different approaches. Breast cancer is many diseases, Esserman said, and a treatment path for one patient may not be appropriate for another.

This precision-focused medicine approach is best achieved through collaboration, which is partly why the National Institutes of Health (NIH) is in the process of ensuring recipients of NIH grant funding must make their data accessible, said NIH director Dr. Francis Collins at the summit. We can all learn from it."

This approach is useful not only to discover how to treat people once they get sick, but also to understand how they remain well. We have these one-size-fits-all approaches to how to stay healthy diet and exercise, for example and most people ignore them, he said.

In the NIHs All of Us trial, which is currently enrolling participants, researchers will follow 1 million Americans who are providing electronic health records, blood samples for DNA sequencing, and information from Fitbits and questionnaires. That rich trove of data will then be available to other researchers. Imagine you have this as a platform to understand wellness, Collins noted.

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100 Health Summit: How to Make Research Better | Time.com - TIME

Genetic counselors save health care dollars when involved in the testing process | TheHill – The Hill

As a cardiovascular genetic counselor with more than 15 years of experience, I know firsthand the critical importance of identifying genetic risk in a timely manner. Genetic counselors are in a unique position to help patients and their providers navigate medically complex genetic risk factors.

Everyday, genetic counselors are evaluating and providing guidance on the constantly evolving nature of genetic testing. With their advanced training in medical genetics and counseling, certified genetic counselors are able to provide state of the art services, accurately assess risk, identify the right genetic test, ensure correct interpretations of genetic test results and guide patient decision-making.

The National Institutes of Health recognizes that genetic counselors are trained to help patients and caregivers understand the scientific, emotional and ethical factors surrounding the decision to have genetic testing. Genetic counselors use their expertise to collaborate with healthcare providers on the best medical pathway forward for the patient, based on the test results.

Complex genetic tests are rapidly evolving, greatly magnifying the need for Medicare beneficiaries to have access to genetic counselors who can guide them through the complex testing process.

The Medicare program does not reimburse certified genetic counselors directly. Direct access to a certified genetic counselor would help ensure that more Medicare patients receive critical services in time to avoid costly complications and improve health outcomes. This is particularly true for seniors at risk of hereditary heart diseases, cancer or neurological conditions for these patients, genetic counseling is an essential service that is best delivered by a certified genetic counselor.

The Medicare program has not kept pace with changes in innovation and payment for genetic testing and counseling. Congress has an opportunity to address this program failure, and help beneficiaries, by adopting the Access to Genetic Counselor Services Act. The legislation would authorize the Centers for Medicare & Medicaid Services to recognize certified genetic counselors as health-care providers.

The proliferation of genetic testing is exploding, and will only continue to grow in the future. Medicare is expected to spend approximately $23 billion in the next ten years on these tests. Evidence indicates genetic counselors can help drive cost efficiencies by providing guidance about which genetic tests would be most beneficial depending on a patients situation and working with patients and their providers to determine if genetic testing is appropriate.

Genetic counseling services can also help ensure Medicare beneficiaries do not face avoidable complications and are not subjected to additional costs. And Medicare already covers genetic counseling, but the program only reimburses other practitioners to provide it.

To ensure access and address the complexity of genetic testing in appropriate medical care, the National Society of Genetic Counselors (NSGC) strongly supports the Access to Genetic Counselor Services Act introduced in Congress. Sponsored by Reps. Dave LoebsackDavid (Dave) Wayne LoebsackOvernight Health Care Presented by National Taxpayers Union Buttigieg targets Warren, Sanders on health care ahead of debate | Judge overturns ObamaCare transgender protections | Poll sees support drop for 'Medicare for All' Genetic counselors save health care dollars when involved in the testing process Iowa Democrat tops Ernst in third-quarter fundraising for Senate race MORE (D-Iowa) and Mike KellyGeorge (Mike) Joseph KellyGenetic counselors save health care dollars when involved in the testing process America's workers and small business owners need the SECURE Act House votes to repeal ObamaCare's 'Cadillac tax' MORE (R-Pa.), the legislation would authorize CMS to recognize certified genetic counselors as health-care providers and reimburse certified genetic counselors for services delivered to Medicare beneficiaries at 85 percent of physician payment levels for the same services.

Research demonstrates that genetic counselors save health care dollars when involved in the testing process and can increase compliance with the recommended medical management plan all priorities as personalized medicine and genetic testing become more prevalent.

The National Society of Genetic Counselors, as well as more than 200 organizations, patients and health-care providers, strongly encourages Congress to enact the Access to Genetic Counselor Services Act, which can make a critical impact on the health of individuals and their families.

Amy Sturm is the president of the National Society of Genetic Counselors' Board of Directors and a professor and the director of Cardiovascular Genomic Counseling at the Geisinger Health System Genomic Medicine Institute.

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Genetic counselors save health care dollars when involved in the testing process | TheHill - The Hill

New Gene Therapy Approach Reduces Cost and Improves Efficiency – DocWire News

A more efficient approach to gene therapy that could lower costs and improve patient outcomes has recently been developed by a team from Scripps Research. This work, published on October 17 in the journal Blood, offers a potential alternative to the standard process of delivering gene therapy, which is expensive, time-consuming, and requires many steps to administer healthy genes to the patients stem cells.

If you can repair blood stem cells with a single gene delivery treatment, rather than multiple treatments over the course of many days, you can reduce the clinical time and expense, which removes some of the limitations of this type of approach, explained research leader Bruce Torbett, PhD, associate professor in the Department of Immunology and Microbiology.

The goal of gene therapy is to introduce a healthy version of a gene to a patients stem cells to replace a defective copy of this gene. This approach is designed to treat inherited conditions caused by genetic mutations, such as sickle cell anemia. Patients with sickle cell have a mutation in a gene that codes for a protein in blood cells, leading to misshaped cells that cause a myriad of clinical issues. The goal of gene therapy is to replace this mutated gene with a healthy copy to restore normal protein synthesis and eliminate the disease symptoms. This is often done by implanting the healthy gene into a modified virus, known as a viral vector, and having this virus use its innate ability to infiltrate host cells and inject this healthy gene into them.

Gene therapy treatments typically require the harvesting of a small population of hemopoietic stem cells, the cells that serve as precursors for all types of blood cells, from the patients blood. Viral vectors containing therapeutic genes are then introduced to these cells with the goal being for them to insert this genetic information into the stem cells.

The hemopoietic stem cells defend themselves from viral penetrance using interferon-induced transmembrane (IFITM) proteins that block the viral vectors. For this reason, many gene therapies require a large number of vectors and many attempts for success, which is an expensive process.

In their work, the Scripps team focused on caraphenol A, a molecular relative of resveratrol, a natural compound made by grapes and other plants present in wine. Resveratrol is known to have antioxidant and anti-inflammatory properties. Although caraphenol A shares these anti-inflammatory properties, it served a much different purpose in this work.

Observing the chemical properties of resveratrol and associated molecules such as caraphenol A, Torbett and colleagues wanted to investigate whether they could be used in gene therapy to improve the viral vectors ability to enter blood stem cells. Enhancing viral vector penetrance into host cells would be advantageous, being that the cells natural defense mechanisms against viral attacks present a challenge in gene therapy.

This is why gene therapy of hemopoietic stem cells has been hit-or-miss, explained Torbett. We saw a way to potentially make the treatment process significantly more efficient.

The researchers found that by adding caraphenol A to human hemopoietic stem cells with the viral vector present, the stem cells defense was weakened, and the viral penetrance increased. When these treated stem cells were implanted into mice in this study, they were observed to produce blood cells that contained the new genetic information.

In addition to saving costs, this approach also cuts down the time required for a patient to receive a gene therapy treatment. Reducing treatment time is not only convenient for the patient, but it lowers the chance that the stem cells lose their self-renewing properties as well. The more time the stem cells spend being outside of the body and being manipulated, the higher the likelihood of them losing their proliferative ability is.

Torbetts team is continuing to research how stem cells combat viral attacks, hoping to lower the cost of gene therapy while improving efficiency.

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New Gene Therapy Approach Reduces Cost and Improves Efficiency - DocWire News

NIH funds new All of Us Research Program genome center to test advanced sequencing tools – National Institutes of Health

News Release

Friday, October 18, 2019

HudsonAlpha awarded $7 million to expand national health dataset with uncharted genetic variants.

The All of Us Research Program has selected the HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, to evaluate the use of leading-edge DNA sequencing technologies that could someday improve diagnosis and treatment of many diseases, both common and rare. The National Center for Advancing Translational Sciences (NCATS) is funding the project with $7 million over one year. All of Us and NCATS are parts of the National Institutes of Health.

All of Us will provide one of the worlds most robust platforms for precision medicine research, with a broad range of data to drive new discoveries, said Eric Dishman, All of Us director. Through this partnership with NCATS, well be able to offer approved researchers an even greater depth of genetic information than originally planned, making the resource even more valuable for them and the diverse communities we seek to help.

With this award, HudsonAlpha will use long-read whole genome sequencing technologies to generate genetic data on about 6,000 samples from participants of different backgrounds. Long-read sequencing analyzes DNA in larger segments than standard (short-read) sequencing technologies, exposing genetic variations that may otherwise go undetected. These variations include different types of alterations to the genetic structure, such as duplication, deletion or rearrangement of the building blocks that uniquely make up ones genome and set it apart from others. Everyone has thousands of these genetic variations, most with little known effect. However, researchers are learning more about how some genetic variants underlie certain health conditions or, conversely, increase disease resistance. Understanding the genetic underpinnings of health and disease will help researchers identify more targeted interventions in the future.

This project will allow researchers to better determine the value of long-read sequencing and its strengths and limitations in exploring more elusive parts of the genome. Combined with the 1 million whole genome sequences the program already plans to deliver over the next several years, this additional infusion of genetic information will provide the research community with the largest collection of genomic structural variation data and clinical data ever produced.

Because long-read sequencing can reveal genetic changes associated with rare diseases, this project is an opportunity to assess and potentially refine the technology for advancing research across the many diseases for which there is no treatment, said Christopher P. Austin, M.D., NCATS director. This project illustrates the power of data and technology to accelerate the translation of knowledge into improved health.

The HudsonAlpha team, led by Shawn Levy, Ph.D., brings significant experience in large-scale sequencing projects and in genetic studies on inherited disorders as well as complex conditions, including autism, diabetes, cancer, schizophrenia, degenerative neurological disease and amyotrophic lateral sclerosis(ALS).

We look forward to collaborating with the other All of Us genome centers and the rest of the consortium on this exciting effort, said Dr. Levy. Contributing long-read sequencing data to reveal additional structural variants will enable the scientific community to study human diversity on a tremendous scale.Appreciating the impacts of all types of genetic variation will further unravel the genetic, environmental and behavioral influences of health.

About theAll of UsResearch Program:Themissionof theAll of UsResearch Program is to accelerate health research and medical breakthroughs, enabling individualized prevention, treatment, and care for all of us. The programwill partner with one million or more people across the United States to build the most diverse biomedical data resource of its kind, to help researchers gain better insights into the biological, environmental, and behavioral factors that influence health. For more information, visitwww.JoinAllofUs.organdwww.allofus.nih.gov.

About the National Center for Advancing Translational Sciences (NCATS):NCATS conducts and supports research on the science and operation of translation the process by which interventions to improve health are developed and implemented to allow more treatments to get to more patients more quickly. For more information about how NCATS is improving health through smarter science, visithttps://ncats.nih.gov.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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NIH funds new All of Us Research Program genome center to test advanced sequencing tools - National Institutes of Health

Gait and Aging; Statin Use in Kids: It’s PodMed Double T! – MedPage Today

PodMed Double T is a weekly podcast from Texas Tech. In it, Elizabeth Tracey, director of electronic media for Johns Hopkins Medicine, and Rick Lange, MD, president of the Texas Tech University Health Sciences Center in El Paso, look at the top medical stories of the week. A transcript of the podcast is below the summary.

This week's topics include statins in kids, treating refractory heartburn, gait and aging, and managing agitation in people with dementia.

Program notes:

0:38 Gait and aging

1:38 Neuroimaging, hemoglobin A1c

2:37 First to look at middle age

3:32 Dementia and agitation and aggression

4:34 Multidisciplinary care better

5:36 People move out of it

6:00 Refractory heartburn

7:00 PPI refractory responded to surgery

8:00 PPI plus other meds

9:02 Statins in kids with high cholesterol

10:02 Followed over 20 years

11:02 Slows atherosclerosis and cardiac events

12:08 End

Transcript:

Elizabeth Tracey: What do we do about persistent heartburn?

Rick Lange, MD: How to treat aggression and agitation in people with dementia.

Elizabeth: Does gait speed pretty early in life predict aging?

Rick: And 20 years of statin therapy in children.

Elizabeth: That's what we're talking about this week on PodMed TT, your weekly look at the medical headlines from Texas Tech University Health Sciences Center in El Paso. I'm Elizabeth Tracey, a medical journalist at Johns Hopkins, and this will be posted on October 18th, 2019.

Rick: And I'm Rick Lange, President of the Texas Tech University Health Sciences Center in El Paso, where I'm also Dean of the Paul L. Foster School of Medicine.

Elizabeth: Rick, I'd like to turn first to JAMA Network Open. I thought this was the most amazing study because of the unbelievable length of it and the amount of data they have collected in it. This was the one I served up as, "What does gait speed pretty early in life tell us about aging?" And this is a cohort study from the Dunedin Multidisciplinary Health and Development Study and that's a population-based study from a 1972-1973 birth cohort in New Zealand. They've looked at data analysis to June 2019.

They had a total of 904 participants. They were able to obtain walking measurements and they did this with three different modalities, if you will. As I said, these are folks that they got at birth and have just gathered a truly, in my mind, amazing amount of information on all of them, not just things like the routine suspects: body mass index, smoking, general practitioner visits, but neuroimaging, hemoglobin A1c. What they found was that, sure enough, gait speed at age 45 years was associated with a lot of other metrics that indicated accelerated aging, including compromised brain health and neurocognitive functioning. These things they were able to identify when they looked retrospectively as early as age 3 years.

Now, we don't know anything about outcomes for all of these people yet -- and it's going to be really interesting to see what happens as they follow them until death starts to take place in this cohort -- but one of the things they say is, "Gosh, maybe we ought to be looking at gait speed a lot earlier to show people who are at risk for all the rest of the accelerated aging kinds of conditions."

Rick: Elizabeth, usually we think about gait and gait speed associated with the geriatric population. It indicates comorbid disease, frailty, and even cognitive function. This is the first one to look at it in middle-aged individuals that should otherwise be healthy. Now, where you'd like to take it next is if we know there are individuals that have accelerated aging and we can identify them, perhaps we can intervene. There are some interventions already going on. For example, things like caloric restriction or administration of metformin. Well, this gait testing may be a relatively sensitive and easy way to identify individuals early on who are at risk for accelerated aging to see if these interventions, over the course of decades, could actually prevent or interrupt that process.

Elizabeth: Yeah, and 3 years of age? That's pretty impressive.

Rick: The other thing I think we should note is when we talk about gait -- use of gait in, obviously, the geriatric population -- it may not identify just the geriatric issues, but issues that preceded that by decades as well.

Elizabeth: Now, let's turn to one of yours. Which of yours would you like to go to?

Rick: Since we talked a little bit about aging, let's talk about dementia and the treatment of agitation and aggression, because there are 50 million people worldwide that have dementia, and as many as three-fourths of them also have associated neuropsychiatric issues. Those are behavioral issues, psychological symptoms, and they include aggression, agitation, and anxiety.

We know individuals with dementia, who have these neuropsychiatric disturbances, are more likely to be institutionalized earlier. They have poorer cognitive function. They have a lower quality of life and increased risk of death, and it also affects the caregivers because it lowers their quality of life as well. The issue is how do we treat aggression and how do we treat agitation, those behaviors, in people that have dementia? Now, there are both pharmacologic ways of doing and non-pharmacologic ways, and there have been very few head-to-head trials.

What these authors did was they looked at all randomized, controlled trials comparing interventions for the treatment of aggression and agitation in adults with dementia and did a network meta-analysis. What they discovered was the multidisciplinary care, massage, and touch therapy, music combined with massage and touch therapy, and even recreation therapy were more efficacious than placebo and usual care. The non-pharmacologic interventions seemed to be more efficacious than the pharmacologic interventions for reducing aggression and agitation in these adults with dementia. Obviously, if you can use non-pharmacologic measures, you avoid the risk associated with pharmacology, that is the risk of fall and side effects as well.

Elizabeth: And that, of course, in Annals of Internal Medicine. We've talked before about the use of antipsychotic medications in this population and that they actually accelerate mortality. I, at least, am really happy to see there are some other -- really more humane -- kinds of interventions that could actually improve the situation. I would also note, as people go through that trajectory of dementia, this period of agitation is just one part of that. I guess I would offer that as a measure of hope, also, that in fact, people will move out of that at some point.

Rick: What this study didn't do was it didn't assess what the costs were, because it's obviously easier to give somebody a medication to try to control agitation or aggression. It's more time-intensive and requires more expertise and more personnel to do some of the non-pharmacologic things that we mentioned.

Elizabeth: Let's turn now to the New England Journal of Medicine, an incredibly common problem: heartburn or gastroesophageal reflux disease (GERD). In this case, what they called the proton pump inhibitor-refractory GERD. This is clearly people who have had this condition for a while, been prescribed PPIs, or proton pump inhibitors, and still have an ongoing issue. This is a Veteran's Administration population. They were able to recruit 366 patients at the beginning, and then they strategized on, "Gosh, are they going to respond to two weeks of omeprazole? Are they going to respond to other kinds of measures that we might try in order to alleviate this problem?" Ultimately, they whittled this down to 78 patients who underwent randomization.

What they did then was they used surgery in some of them, active medical treatments in some of them, or controlled medical treatments. The outcome of this one was that, for this very, very selected group of people who had PPI-refractory heartburn, the surgical procedure was actually superior to anything else they tried. So I think this is hopeful news for people who really truly have refractory heartburn, because people complain about it being an enormous impact on their quality of life.

Rick: Two take-home messages. Truly proton pump inhibitor-refractory heartburn is relatively uncommon. As you mentioned, three-fourths of the individuals that were enrolled in the trial with this diagnosis actually didn't have it. Now, how did they figure that out?

All these individuals underwent endoscopy. They had esophageal biopsies, esophageal manometry -- that is to measure the pressure in the esophagus -- and also pH measurements in the esophagus. All those things were done to arrive at the correct diagnosis, and three-fourths of the time it wasn't PPI-refractory heartburn. But in those individuals that truly had it, surgery was successful in relieving it in about 70% of the time, and continued medications either with a PPI plus baclofen or a PPI plus baclofen plus desipramine was only effective in about 28% of the individuals. So again, surgery is better in individuals with true PPI-refractory heartburn, although it was a relatively small group of individuals.

Elizabeth: Talk to me about laparoscopic Nissen fundoplication and what its upsides and downsides are.

Rick: Elizabeth, again, it's a laparoscopic surgery as opposed to an open surgery. There's always a risk with any type of surgery. It was difficult to quantitate it in this particular study because there was a small number of individuals, only about 40 that had it. But it's a fairly routine procedure, and in the hands of experts, it could be done fairly well.

Elizabeth: So I guess the caveat we would offer to folks is make sure you get evaluated really, really carefully before you go and make this choice.

Rick: Absolutely. You wouldn't want to undergo that if the diagnosis is not PPI-refractory heartburn.

Elizabeth: Very good. Now, we're going to take a look still in the New England Journal of Medicine at 20-year followup, again, an impressive amount of time of statins in children with familial hypercholesterolemia.

Rick: We don't usually think about giving statins to children. We don't have any long-term studies about the outcomes in these individuals. That's why this study fills a particularly important niche. These are kids that have familial hypercholesterolemia -- that is, they inherited it from one of their parents. It's a dominant inheritance. These were kids that were identified as having it and started on statin therapy 20 years ago. They followed their outcome, and they compared them to two groups: to their siblings that weren't affected and their parents who were affected.

This study is 184 of the original 214 kids that received statin therapy as early as 8 to 10 years of age. The statin therapy lowered their LDL cholesterol, the bad cholesterol, by about 32%, from 237 to 161. By the way, we want it to be below 100. In fact, there were only about 20% of the kids that got to that point. But when you followed them over the course of 20 years and compared them to their siblings, they did very well. If we measured the carotid intimal-medial thickness -- and that is how thick is the artery becoming -- at baseline, the kids with hypercholesterolemia had a thicker carotid intimal-medial measurement. But over the course of 20 years, they progressed exactly the same as their unaffected siblings, so it slowed the progression of atherosclerosis.

When you compared them to their parents, about 26% of the parents, by the age of 40, had already had some cardiac event. Most of them, for example, had a heart attack and some had angina. Some had even died, one as young as 20 years of age. But in the kids, only 1% of those treated with statins actually had a cardiovascular event. Seven percent of the parents had died by the age of 40; 0% of the kids who had taken statins for 20 years had died. So this is really good evidence that initiation of statin therapy in the kids with familial hypercholesterolemia slows the progression of atherosclerosis and it reduces the risk of cardiovascular disease in early adulthood.

Elizabeth: And of course, it makes me wonder about expansion of this particular strategy now that we have so many kids who are obese and probably have pretty poor cholesterol profiles, I would think.

Rick: Well, in fact, Elizabeth, the American Association of Pediatrics now recommends all children have a cholesterol measurement so we can ascertain which of them have elevated LDL cholesterol. We certainly want to address that first with non-pharmacologic measures, but then with statins. These particular kids, it's a genetic abnormality and just treatment with diet and exercise alone won't lower their cholesterol sufficiently. It does require a statin, but you're right. Identifying kids early on and getting them on a pathway to reduce LDL cholesterol will be important.

Elizabeth: Most interesting. Another cohort I'd like to see in 20 years to see what happens. On that note, then, that's a look at this week's medical headlines from Texas Tech. I'm Elizabeth Tracey.

Rick: And I'm Rick Lange. Y'all listen up and make healthy choices.

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Gait and Aging; Statin Use in Kids: It's PodMed Double T! - MedPage Today

DNA edited to treat sickle cell disease | News – The Times

Scientists have treated a patient with sickle cell disease by editing their DNA in a possible breakthrough for genetic medicine.

The trial was performed in Nashville, Tennessee. The first British patients could be offered similar experimental therapies within a year for conditions that may include cancer and blindness.

Sickle cell disease (SCD) is an inherited condition where red blood cells, which should be circular, adopt a crescent shape. The sticky and rigid malformed cells clog blood vessels and damage organs. SCD affects up to 15,000 people in Britain, who suffer acute pain and can die in childhood.

The treatment involved a high-precision gene-editing tool called Crispr/Cas9 used to alter the DNA of Victoria Gray, 34, causing her body to produce foetal haemoglobin, a substance not

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DNA edited to treat sickle cell disease | News - The Times

New research center will encompass a myriad of muscle science and disease investigations – News-Medical.net

With collaborating labs across the University of Washington campus and at other Seattle-area institutions and beyond, the Center for Translational Muscle Research will encompass a myriad of muscle science and disease investigations. Studies will range from the basics of muscle-related proteins, genes and cell biology to the design of potential treatments for devastating muscle diseases. At present, only symptom management and supportive care is available for many of these conditions.

The latest advances in such areas as gene therapy and stem cell biology are putting medical science closer to finding options for people with as-yet incurable muscle conditions that cause disability and shorten lives. A few of these disorders eventually result in neuromuscular breathing weakness or failure requiring mechanical ventilation.

What the new muscle research center offers patients with these diseases, many of whom are racing against time, is hope."

Michael Regnier, professor of bioengineering, a jointly operated department of the University of Washington College of Engineering and the UW School of Medicine and center director

A few of the several diseases for which the new center initially will be seeking answers are

Time is of the essence for many patients eagerly awaiting treatment progress in muscle diseases that are characterized by a decline and weakening.

Clinical partners include pediatric experts in rare genetic disorders and physical medicine physicians who care for patients with neuromuscular disorders at the UW Medical Center Rehabilitation Medicine Clinic and other settings.

One of several areas in which the center is expected to take a major leadership role is in growing human stem cells, some of which will be derived from patient cells, to produce disease-in-a-lab-dish models. These models will improve understanding of how the disease pathology begins and develops, and will also serve for testing possible treatments.

Posted in: Medical Condition News | Healthcare News

Tags: Bioengineering, Breathing, Cell, Cell Biology, Disability, Gene, Gene Therapy, Genes, Genetic, Medicine, Muscle, Muscular Dystrophy, Myopathy, Pathology, Protein, Research, Sclerosis, Stem Cells, Swallowing

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New research center will encompass a myriad of muscle science and disease investigations - News-Medical.net

SIDS May Be Linked To A Genetic Inability To Digest Milk, Study Finds – Moms

Sudden Infant Death Syndrome (SIDS), sometimes known as crib death, occurs when an infant under the age of one dies inexplicably.The typically healthy child will often die while sleeping and is the leading cause of death of children between the ages of one month and one year, claiming approximately 3000 lives a year. There has been little known about the cause of SIDS but new research is now showing that some form of SIDS could be linked to a genetic inability to digest milk.

A study out of theUniversity of Washington School of Medicine focused on the "mitochondrial tri-functional protein deficiency, a potentially fatal cardiac metabolic disorder caused by a genetic mutation in the gene HADHA."

It found that newborns with had the genetic mutation are unable toproperly digest some of the fats found in breastmilk, resulting in cardiac arrest. It found that "the heart cells of affected infants do not convert fats into nutrients properly," and once these fats build up they can cause serious heart and heart health issues.

There are multiple causes for sudden infant death syndrome, said Hannele Ruohola-Baker, who is also associate director of the UW Medicine Institute for Stem Cell and Regenerative Medicine. There are some causes which are environmental. But what were studying here is really a genetic cause of SIDS. In this particular case, it involves a defect in the enzyme that breaks down fat.

Lead author on the study Dr. Jason Miklassaid that it was his experience researching heart disease that prompted him to look at the possible link with SIDS. There was one particular study that had noted a link between children who had problems processing fats and who also had cardiac disease that caused him to delve a little deeper.

Miklas andRuohola-Baker teamed up to begin their own research study.If a child has a mutation, depending on the mutation the first few months of life can be very scary as the child may die suddenly,Miklas noted. An autopsy wouldnt necessarily pick up why the child passed but we think it might be due to the infants heart-stopping to beat.

Were no longer just trying to treat the symptoms of the disease, Miklas added. Were trying to find ways to treat the root problem. Its very gratifying to see that we can make real progress in the lab toward interventions that could one day make their way to the clinic.

Ruohola-Baker says their findings are a big breakthrough in understanding SIDS. There is no cure for this, she said. But there is now hope because weve found a new aspect of this disease that will innovate generations of novel small molecules and designed proteins, which might help these patients in the future.

Read Next:Babies May Not Be 'Designed' For Sleeping, According To SIDS Expert

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Jen Harley Gets Emergency Protection Order Against Ronnie Ortiz-Magro

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SIDS May Be Linked To A Genetic Inability To Digest Milk, Study Finds - Moms

Are Pricey Fertility Treatments Helping Women Have Babies…Or Preying On Them? – Women’s Health

Lauren Citro, 32, has been trying to conceive for nearly six years.

Shes received fertility treatments at four clinics in three states.

In her effort to exhaust all options, shes sampled almost every intervention recommended: immunology testing, assisted hatching, supplements, acupuncture, intracytoplasmic sperm injection, testicular sperm extraction and the list goes on.

She trusted her doctorsand didnt want to drive herself crazy Googling things when fertility treatment is already a high-stress processbut the info she received from providers tended to be minimal and conflicting. Case in point: She went through whats known as an endometrial scratch that was described as highly recommended at her third clinic, only to find out it was entirely dismissed at a fourth place, because of the trauma it causes.

So Citro finally started doing some sleuthing online. Now, she asks a lot more questions. And as time goes on, and the more she hunts for evidence, the less shes willing to try different options. Our rationale used to be cant hurt, might help, Citro, a nurse in San Diego, says of the additional treatments she and her husband had during six IVF retrievals and four transfers (total cost: more than $100,000). But thats not necessarily the case. (She points to another example: a $7,000 testicular extraction of sperm that the results said had no impact on our outcome.)

About 10 percent of women in the U.S. struggle to conceive or stay pregnant, and nearly 2 percent of all births in the country are via in vitro fertilization (IVF), which costs upwards of $15,000. But beyond that, more than two-thirds of fertility clinic patients spend up to $10,000 per cycle on so-called optional extras or add-onsemerging techniques a clinic might offer on top of mainstream fertility treatment (i.e., IVF), supposedly to improve the odds even further and typically (almost always) for an additional cost. Add-ons, like the ones Citro tried, are rarely covered by insurancethough, in general, getting any part of your fertility treatment covered is still not the norm.

On some level, fertility treatment is like going to a Chinese restaurant and picking items from a dim sum cart, and it shouldnt be that way.

Many health-care providers are becoming increasingly worried that fertility extras come with costs far beyond monetary ones. Out of a group of routinely offered add-ons, 26 of 27 lacked rigorous, conclusive research to back their effectiveness for improving pregnancy or birth rates, found a recent investigation conducted by Oxford University and published in the British Medical Journal. Plus, the research IDd at least one of the procedures (preimplantation genetic screening, which well get to later) as potentially harmful.

On some level, fertility treatment is like going to a Chinese restaurant and picking items from a dim sum cart, and it shouldnt be that way, says Rachel Ashby, MD, an ob-gyn at Brigham and Womens Hospital Center for Infertility and Reproductive Surgery and an instructor at Harvard Medical School.

Piling on to the controversy is the fact that some experts believe there are flaws in the way U.S. fertility clinics are overseen. The U.S. requires fertility centers to report the basic details of each treatment cycleoutcomes, infertility diagnosis, number of embryos transferred, use of fresh or frozen embryos, donor or non-donor eggsto the Centers for Disease Control and Prevention (CDC) each year.

So in that sense, the industry is highly regulated. While that sounds like a positive fact, there is no penalty if a clinic doesnt report to the CDC; its simply listed as non-reporting.

The American Society for Reproductive Medicine (ASRM) also offers practice guidelines and opinions on how clinics should operate, including whether certain add-ons should be used on all patients, but businesses are not required to follow these either.

Many experts in the field say that for a lot of interventions, the science isnt there yet. That doesnt mean it will never advance, or that add-ons unanimously deserve a shady rap. But until we know whether an add-on works for a certain patient groupand whether the potential benefit outweighs the risksome believe they should be offered sparingly, with the science (and its flaws) and the pros and cons laid out clearly and deliberately for every single patient. Unfortunately, that doesnt always happen.

Whew, thats a lot to unpack. The data is messy and unfinished. Clinic regulation is loose. Yet women remain hopeful. And how could they not when faced with the opportunity to do everything in their power to start a family? WH goes deep

The debate is a minefield, starting with the word add-on itself. These treatments are generally unproven, yes. Still, many healthcare providers and patients are so insistent about the value that they bristle at the mere suggestion that add-ons are frivolous.

Deborah Anderson-Bialis, a founder of FertilityIQ, a website that provides independent analysis of clinics and doctors, points out that proponents would much prefer the phrase options for treatment to add-ons, because the latter has a negative connotation and implies theyre unnecessary. Some medical publications use the term adjuvants instead of add-ons.

This year, the United Kingdoms fertility regulatory agency began rating nearly a dozen add-ons with a traffic light system, with green reserved for procedures shown to be effective and safe by at least one good-quality randomized clinical trial (the gold standard of research). Not one has received a green rating yet. And if youre wondering, the U.S. has far less regulation than the U.K., which may stem from Congresss 1996 ban on the use of federal funds for research related to the creation of embryos.

Heres a snapshot of the points of contention:

The most commonly advocated add-on in recent years is preimplantation genetic testing for an abnormality called aneuploidy, or PGT-A. Its also one of the most expensive ($3,000 to $8,000, depending on where you live). Some practices, particularly in competitive markets like New York, recommend it (and sometimes insist on it) for 100 percent of patients, according to Norbert Gleicher, MD, founder of New Yorks Center for Human Reproduction. But there is so far no evidence that it increases live birth rates, which is why insurance doesnt cover it. The U.K.s watchdog group has given the screening a red-light rating, as it risks damaging fragile embryos by removing cells to test for these abnormalities. Meanwhile, an ASRM committee analyzed the available studies and concluded there was insufficient evidence to recommend the routine use.

But this is where things start to get complicatedlike, really complicated. Proponents of PGT-A will point out that theres a potential upside with PGT-A in women who have miscarried (aneuploidy is thought to be the biggest cause of miscarriages). And while PGT-A did not improve the live birth rate in all subjects, women over 38 who had PGT-A screening were found to have a better chance of achieving a live birth and were significantly less likely to have a miscarriage, possibly because they avoid being implanted with an embryo thats genetically abnormal from the get-go, found a study in Human Reproduction. This may be reason enough for some women to choose it. That all being said, the study authors note that it remains to be seen whether the benefits outweigh the drawbacks of cost and invasiveness.

This is a tool we can use to lessen our patients suffering and also give them some peace of mind that the pregnancy thats created is genetically normal, argues Catha Fischer, MD, an ob-gyn at Reproductive Medicine Associates of New Jersey. Two sides to every coin, in a sense.

Intracytoplasmic sperm injection (ICSI) is a common add-on.

This is when the single best-looking sperm (and it definitely is a beauty contest; its done by sight) is picked to be injected into the egg. (In conventional IVF, the egg is put in a petri dish with a bunch of sperm, and whichever one gets to it first is the winner.) For people who have no evidence of male-factor infertility, which is at least 50 percent of patients, the chances of getting pregnant are identical whether you pay the $1,000 to $2,500 for ICSI or not. Yet ICSI is being offered to people who arent, as doctors say, medically indicated for the issue. In fact, 66 percent of IVF cycles used ICSIand only 32 percent actually had male-factor infertility aloneper the latest CDC report.

Whats more, the British fertility regulatory authority warned that ICSI has slightly more risk than other fertility treatments; eggs may be damaged when theyre cleaned and injected with sperm. ICSI may also be associated with genetic and developmental disorders, though its not clear whether this is connected to the treatment itself or the infertility that prompted its use.

The add-on is so controversial that it has prompted experts to stand up and scream at each other at otherwise staid medical conferences, which Anderson-Bialis has witnessed. The method uses drugs to suppress the mothers immune system, based on the theory that her immune system goes out of control and mistakenly targets her pregnancy, possibly causing infertility, failed IVF, or miscarriage.

A little perspective here: Those are just a few examples of hot-button add-onsfrom a list of nearly 30. And not every supplemental fertility tool has such clear potential downsides. Most others just dont have verified positivesand cost a lot.

The yes mentality, explained

The fact that patients are embracing add-ons makes total sense: Youre determined to grow your family, and the fertility window is cracked open only so long, right? It can feel as if there simply isnt time to wait for conclusive research. And given the incredible expenses of fertility treatment, many women prefer to walk away knowing they gave it their absolute best shot.

We spent a lot of money because we wanted to feel like we did everything we could, says Citro, who notes that for months after her last cycle, it was difficult to talk about her long quest for parenthood without crying. Its an emotional roller coaster.

In these situations, many people are understandably searching for a sense of control, says psychologist Jessica Zucker, PhD, who specializes in womens reproductive and maternal mental health. When your body isnt doing what you wanted or expected it to do, all sorts of feelings can result from thisdisappointment most especially. But you have ownership over what youre willing to go through to try to conceive. So its a good idea to get familiar with your limits.

There is a mistaken notion that medical treatments are either futile or backed by large, well-controlled randomized studies."

These extras also glitter with a success halo. Its tempting to revel in positive stories in online communities and message boards and read into the content. But, says Dr. Ashby, anecdotes are two steps below voodoo in terms of value. There are more than 200you read that rightvariables that can impact an IVF cycle, according to Mandy Katz-Jaffe, PhD, scientific director of the fertility clinic network CCRM. So its not possible to pinpoint one single variable as responsible for the birth of a healthy baby.

However, when youre struggling with infertility, theres power and comfort in believing. Maybe Ill be the one person in 1,000 it works for, you imagine. Katie Coester, 37, of Washington, D.C., went to a clinic that didnt try to upsell, as she describes, and recommended only two add-ons: testing embryos for chromosome abnormality and endometrial scratching. (Her IVF was covered by insurance; the additions cost her some $2,000.) She also scoured message boards for possible ways to increase her odds, which is how she ended up doing acupuncture, watching funny movies (a small study done in Israel recommended laughter), and eating, er, pineapple core.

Coester had only one fallopian tube and was 31 when she started treatment. She had fairly quick successbut if she hadnt, she thinks she would have paid for anything and everything. You think, Ive come this far, says Coester, who is now a mother of two. Even with insurance coverage, we had to say, How far are we willing to push my body? What is the emotional toll were willing to take?

This brings us to the line the medical world is currently struggling to straddle: finding middle ground between forgoing ineffective and costly treatments and offering patients potentially helpful ones that just may not have a large randomized controlled trial behind them, says Zev Williams, MD, PhD, chief of reproductive endocrinology and infertility at the Columbia University Fertility Center.

There is a mistaken notion that medical treatments are either futile or backed by large, well-controlled randomized studies, says Dr. Williams. The reality is much more nuanced than thatthere is a large area in the middle where there is either preliminary or limited data showing benefit.

Karina Shreffler, PhD, a professor of human development and family science at Oklahoma State University, says the super-solid research studies are extremely expensive and difficult to secure funding for and also complicated to run. You need a large enough sample of diverse women receiving a specific kind of treatment (and a control group of similar women who dont receive the treatment). Even then, she says, youd be working within the challenge that only some women seek fertility treatment, and that theyre different from the women who dont (due to lack of finances, ethical reasons, and geography). So that poses additional considerations when it comes to interpreting the results.

Until the science catches up (if it does, that is), the Big Question remains: Why do clinics offer these treatments in infantile stages? First, many interventions in medicinenew cancer treatments, for instanceare instituted before theres a ton of research if there is even a slight inkling that they may help. Or, sadly, the more cynical take: Offering add-ons gives clinics a financial edge, many experts suggest. Because so few insurance companies pay for PGT-A, for example, private clinics and labs get the full fee, as opposed to insurance companies lower reimbursement rates, making the procedure a moneymaker for the fertility industry. These things are highly profitable, says Arthur Caplan, PhD, founding director of NYU Langones Division of Medical Ethics. Its We have desperate people here, and we can sell them anything.

If youre in the market for treatment, the bottom-line advice is to hitch your wagon to a health-care professional who is willing to take the time to educate youand to know you. If you meet with a doctor, and all youre getting is this is what you should do, then you need to find a new one, says Dr. Ashby. A praiseworthy provider will help you analyze and interpret conflicting fertility datawhich is tough to do as a laypersonand will also draw from their experience treating patients with cases similar to yours. (Dr. Fischer likes to tell patients, If youre thinking about Googling a question, just email me instead. I can shield you from worrying over misinformation or a misunderstanding.)

Grappling with infertility can suck the life out of you. But in the end, the best you can do is try to make an informed decision.

With all the new fertility and egg-freezing pop-ups, its critical to consider quality and experience over flashy marketing and trinkets. A doctors goal, always, should be to give every patient the very best chance of success and to practice patient-focused and evidence-based care, while also being transparent about the data behind medical recommendations, says Dr. Williams. More safeguarding suggestions: Consider a facility that is attached to a university, and seek out multiple opinions before green-lighting a procedure for yourself.

Citro, for one, needs a break from it allthe doctors, the studies, the clinics, the add-ons, the Googling. She hit pause for now but has not lost hope. After nearly six years of letting infertility dominate her life, she and her husband took a break from IVFand a vacation to Europe. We know well go back to treatment eventually, she says. We really hope that we end up with kids. Whatever happens, I want to look back and know that I made the very best decisions for me.

How to Prep for the Unknown Grappling with infertility can suck the life out of you. But in the end, the best you can do is try to make an informed decision. Go in with an investment plan of sorts (in your mind or on paper) that details what youre comfortable putting into the process monetarily and emotionally. Brainstorm in advance what youre willing to devote to thisthe money, the energy, the time off from work if you need, perhapsand what youre not, says psychologist Jessica Zucker, PhD. Maintain flexibility. Its okay if your expectations and limitations evolve or change over time. Try not to judge yourself at any stage of the process, she stresses. In the end, you got this, no matter what that means for you.

This article originally appeared in the October 2019 issue of Women's Health.

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Are Pricey Fertility Treatments Helping Women Have Babies...Or Preying On Them? - Women's Health

My Daughter and I Were Diagnosed With Autism on the Same Day – NYT Parenting

Creditvia Jen Malia

You convinced yourself that you and our daughter have autism, my husband yelled. You did all this research and told the doctor what he needed to hear to diagnose you!

No, it wasnt like that, I said. You know about all the testing we went through.

I cant believe you brought her into this, he said. Youre like those mothers who make up medical problems about their kids. Why cant you just let her be a kid?

Shes still the same girl she was before she got diagnosed, I said, tears dripping down my face. And Im still the same woman you married, too.

I knew then that if I couldnt persuade my husband of five years to accept my daughters autism and my own, it would ruin our marriage and tear our family apart. Autism wasnt just a medical diagnosis; it was part of our identities. To reject our autism was to reject us.

Doctors originally told me my daughter had just a language delay. But I knew this couldnt explain the intensity of her emotional meltdowns. It took me hundreds of hours of medical research to understand that her difficulty socializing, repetitive routines, sensory issues and obsessive interests pointed to autism. I eventually realized that not only was she autistic I was, too. A clinical psychologist diagnosed me and my daughter with autism spectrum disorder on the same day; she was 2 and I was 39.

Do you think theres something wrong with everyone in our family? my husband asked a year later, when our then 2-year-old son was also diagnosed with autism spectrum disorder. As an autistic mother, I wasnt surprised to learn that I had another child on the spectrum. A 2014 study found that parents of autistic children are more likely to have elevated levels of autistic traits, whether or not these traits are enough to qualify for a clinical diagnosis of autism spectrum disorder.

[Learn about sensory processing disorder and how it affects kids.]

In the study, when one parent scored high on a test that measures presence and severity of autistic traits (the SRS, or Social Responsiveness Scale), they were 52 percent more likely to have a diagnosed autistic child; when both parents scored high, they were 85 percent more likely to have one. Published earlier this year, the largest study ever conducted regarding genetic contributions to autism also found that inherited genes account for about 80 percent of autism risk.

But how was I supposed to parent our autistic children if my husband didnt even think they were autistic and doubted my diagnosis too? It is not unusual for family members and others who know autistic women to have trouble accepting their autism diagnosis.

Doctors, teachers and most people have a male stereotype of autism in mind; when they think of autism, they think of Rain Man, not of a woman or girl, said Dr. Francesca Happ, Ph.D., a professor of cognitive neuroscience at Kings College London. For women who are married with children, this goes against several stereotypes people may hold about autism: male, single, few close relationships, no children.

The diagnostic criteria and assessment tools were developed primarily based on how autism presents in males, which means women can often be overlooked for an autism spectrum disorder diagnosis, depriving them of an understanding of themselves as different, not damaged, said Dr. Lauren Kenworthy, Ph.D., a professor of neurology, pediatrics and psychiatry at the George Washington University School of Medicine and the director of the Center for Autism Spectrum Disorders at Childrens National Hospital.

Sunyi Dean of Leeds, England, a mother of a 4-year-old nonverbal autistic son and a 7-year-old daughter who is on the waiting list for autism spectrum disorder diagnostic testing with the National Health Service, said that she worried about how her son will relate to other people if he doesnt learn verbal communication, but at the moment he is happy in himself and settled into his special school.

With her home-schooled daughter, Dean said she was mostly ignored by professionals and other parents when she first raised concerns about autism, and now that shes being taken more seriously, the process has been very difficult and slow.

As an autistic mother who was diagnosed after her son was, the biggest challenge for Dean has been finding time for self-care. I always thought I wouldnt mind the demands of parenthood because Im not hugely social and dont need to go out much, Dean said. But I still need a lot of personal space, a lot of downtime to recover on my own, and thats difficult to get with kids around.

By the time I was diagnosed with autism, I was so overwhelmed by the responsibilities of working full time as an English professor while parenting three young children (a 1-year-old son and 2- and 3-year-old daughters) that I could barely keep it together.

The year before my diagnosis, the stress of being an undiagnosed autistic mother nearly cost me my life. I spent two weeks in and out of the E.R. complaining of stroke-like symptoms while battling uncontrollable crying fits brought on by my desperate attempts to get medical treatment. You need to learn to manage your pain. The E.R. is only for patients who actually have emergencies, a nurse said while handing me my discharge papers.

Though I didnt know it at the time, my crying fits at home and in the hospital were autistic meltdowns. I would find out many months later that what I had experienced was a cycle of sporadic hemiplegic migraines, which can lead to a coma or, in rare cases, even death. I often wonder if I would have been treated differently by medical staff if I had had an autism spectrum disorder diagnosis then, or if I still would have been dismissed as an anxious woman who didnt know how to manage her pain.

Research also suggests that undiagnosed autism has been harmful for women. In a 2016 study of 14 women, many told us that the fact that their autism went unrecognized for so long had a very real and negative impact upon their mental health, said Dr. William Mandy, D.Clin.Psy., Ph.D., an associate professor in clinical psychology at University College London. A lack of a diagnosis means a lack of appropriately targeted support, which can place an autistic individual under huge stress.

The published research on the experiences of autistic mothers is very limited. Two small qualitative studies in 2016 and 2017 consider pregnancy, childbirth and the postpartum period. The interviews of autistic mothers in these studies reveal challenges they had with sensory issues during breastfeeding and childbirth, and adapting to motherhood and infant care. Many said they felt unfairly judged by midwives and other caregivers on parenting skills and decisions.

Dr. Simon Baron-Cohen, Ph.D., a professor of developmental psychopathology and the director of the Autism Research Center at the University of Cambridge, and his colleagues have multiple studies underway to investigate the experience of autistic motherhood beyond the perinatal period. Presented at the 2016 International Meeting for Autism Research, their unpublished research involved an online survey of more than 300 autistic mothers. The study found the majority of them had extreme anxiety when talking to professionals about their children, encountered disbelief when they disclosed their diagnosis to professionals and struggled with daily parenting tasks.

It should now be a routine requirement for autism researchers to collaborate with autistic people in every project, Dr. Baron-Cohen said. Without the input of autistic mothers, we would have missed key issues such as the fact that autistic mothers have increased rates of postnatal depression and have been falsely accused of Munchausen syndrome by proxy on the assumption that they were making up their childrens autism. He hopes this research will lead to more awareness of autistic motherhood experiences and the development of policy documents to improve the woefully inadequate services available for autistic mothers.

Many autistic women are highly attuned to their children, said Lana Grant, author of From Here to Maternity: Pregnancy and Motherhood on the Autism Spectrum, a book aimed at helping autistic mothers with the challenges of pregnancy and motherhood. They may see their child struggling with the same things that they struggled with as a child. They read up on everything they can about a behavior or condition and then they go to the professionals for help. Instead, they are seen as too knowledgeable and hysterical, Grant said, and dismissed as trying to tell professionals how to do their job.

She was already the mother of five of her six children (three of whom are on the autism spectrum) when she got her autism diagnosis at 38. Autistic mothers are their own worst critics, Grant said. She recommends that autistic mothers find a support network of other mothers on the spectrum, including those who are out and proud on social media, like her.

A few years after my diagnosis, my husband came to accept my own and our childrens autism. I stopped lecturing him, realizing that he would eventually understand our differences on his own terms. He started going to therapy appointments with our children. Then last year, at our kids Taekwondo class, I told the father of another child that we are autistic. I know, he said. Your husband told me last time he was here.

My husband now respects my parenting decisions, knowing that I can help our children by drawing on my own experiences living with autism. He is the supportive husband whom I married and a loving father who accepts our kids differences.

While the limitations of my autism sometimes make it difficult for me to handle the demands of parenting three young kids, I am now more willing to seek help from support groups and therapists. Learning to understand and accept my own and my kids autism was the best thing that ever happened to me because it empowered me to be a better mom.

[The right school can make all the difference for a child with disabilities, one mom writes.]

Jen Malia is associate professor of English at Norfolk State University and the author of the forthcoming childrens picture book Too Sticky! Sensory Issues With Autism.

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My Daughter and I Were Diagnosed With Autism on the Same Day - NYT Parenting

Embodied: The Elusive Science Of Sleep – WUNC

A solid eight hours can be hard to come by in our non-stop, tech-saturated world. But the modern science of sleep shows that shut-eye is just as critical as diet and exercise in shaping both mental and physical health.

Host Rao is joined by Mary Ellen Wells, the director of the neurodiagnostics and sleep science program at the University of North Carolina School of Medicine; Jade Wu, a licensed clinical psychologist at Duke University specializing in behavioral sleep medicine; Roger Ekirch, a university distinguished professor in the department of history at Virginia Tech; and Sheena Faherty, a science communicator who conducted doctoral research into hibernation in lemurs at the Duke Lemur Center to talk about sleep on this edition of 'Embodied.'

On this episode of The State of Things series Embodied: Sex, Relationships and Your Health, host Anita Rao speaks with experts in psychology, neurology, history and even lemur biology to better understand what is actually happening when we sleep and how we can learn to sleep better.

If I had no social obligations, no work and I lived in a cave, I would just want to go to bed later and later each day and wake up later and later each day. -Jade Wu

Rao is joined byMary Ellen Wells, the director of the neurodiagnostics and sleep science program at the University of North Carolina School of Medicine;Jade Wu, a licensed clinical psychologist at Duke University specializing in behavioral sleep medicine and the host of the Savvy Psychologist podcast;Roger Ekirch, a university distinguished professor in the department of history at Virginia Tech and the researcher who brought to light an ancient pattern of segmented sleep; andSheena Faherty, a science communicator who conducted doctoral research into hibernation in lemurs at the Duke Lemur Center.

The sleep experts break down the latest research into the science of sleep, how our ancestors used to sleep in two shifts with a period of wakefulness in between, and why lemurs may hold the key to human hibernation and deep space travel.

Interview Highlights

Jade Wu on whats happening to our brains and bodies during deep sleep:

Human growth hormone peaks in how much it's being released in the body during deep sleep. So that's why kids need a lot of sleep, need a lot of deep sleep because they're growing. Sex hormones are also being released during this stage. That's why teenagers also need a lot of sleep, because they're going through puberty. And we're also consolidating memories The brain is also doing some janitorial work very important janitorial work. We're clearing out debris from the cerebrospinal fluid, just basically junk in the brain that we don't need. And with this clearing out, we're sort of resetting and we're maintaining brain health.

Wu on how we are programmed to have different circadian rhythms:

We are all biologically wired to be either a morning lark, a night owl or somewhere in the middle. And this is largely driven by genetics, so we can't help it. And there's actually differences in the length of our cycles depending on what we have. So for example, I'm a night owl. So I probably don't have a 24 hour cycle I probably have something more like a 24.3 hour cycle. Meaning if I had no social obligations, no work and I lived in a cave, I would just want to go to bed later and later each day and wake up later and later each day. Whereas people who are morning people tend to have closer to a 24 hour cycle. Though the average I believe, is about 24.1 hours.

Mary Ellen Wells on the science behind sleepwalking:

So sleepwalking, it can be surprisingly common about one to 15% of the population can suffer from sleepwalking at any point. And it's more common in children. And it's one of what we call a parasomnia, [those] are essentially acting out or movements, odd things that are happening during the night ... And there are certain parasomnia that happen during REM sleep and certain parasomnia that happen during non-REM sleep. Sleepwalking is one of those that happen during non-REM sleep. REM sleep is essentially your dreaming state. And sleepwalking it's not entirely understood exactly why this happens to people. But there are many things that can spark it to happen, such as sleep deprivation Sleepwalking is very, very dangerous. The person [is] not aware that this is happening. So there's a misperception out there that you should never wake a sleepwalker.

It was a prime time for petty crime. -Roger Ekirch

Roger Ekirch on what people did in the break between segmented sleep:

There were special prayers to be said after your first sleep. They meditated, many reflected upon dreams from whence they had just awakened. Others of course, used chamber pots. But then, still others left their beds, they performed chores. There's a wonderful passage in Virgil's Aeneid describing this. [They] performed chores that required very little light and virtually no skill in the dead of night. Some left their homes, visited neighbors or I think even more commonly pilfered apples from a neighbor's orchard. It was a prime time for petty crime. It was also, in the view of physicians writing in the 16th, 17th and 18th centuries, a prime opportunity in which to conceive children, after the first sleep when a couple would be more rested. In the words of Laurent Joubert, a French physician in the 16th century: It is after the first sleep when couples and I'm quoting him verbatim do it better and enjoy it more.

Sheena Faherty on the question of whether humans could possibly hibernate one day:

NASA is really interested in it because of things like space travel. And these types of things have applications to emergency medicine and organ transplantation....What we find is that the same metabolic pathways, and genes that are involved in these metabolic pathways that are regulating these changes in metabolism [during lemur hibernation], are the same genetic pathways and genes that humans have already. And so in theory, humans have the capability to enter a torpor-like state based on this finding.

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Embodied: The Elusive Science Of Sleep - WUNC

atheism | Definition, Philosophy, & Comparison to …

Atheism, in general, the critique and denial of metaphysical beliefs in God or spiritual beings. As such, it is usually distinguished from theism, which affirms the reality of the divine and often seeks to demonstrate its existence. Atheism is also distinguished from agnosticism, which leaves open the question whether there is a god or not, professing to find the questions unanswered or unanswerable.

The dialectic of the argument between forms of belief and unbelief raises questions concerning the most perspicuous delineation, or characterization, of atheism, agnosticism, and theism. It is necessary not only to probe the warrant for atheism but also carefully to consider what is the most adequate definition of atheism. This article will start with what have been some widely accepted, but still in various ways mistaken or misleading, definitions of atheism and move to more adequate formulations that better capture the full range of atheist thought and more clearly separate unbelief from belief and atheism from agnosticism. In the course of this delineation the section also will consider key arguments for and against atheism.

A central, common core of Judaism, Christianity, and Islam is the affirmation of the reality of one, and only one, God. Adherents of these faiths believe that there is a God who created the universe out of nothing and who has absolute sovereignty over all his creation; this includes, of course, human beingswho are not only utterly dependent on this creative power but also sinful and who, or so the faithful must believe, can only make adequate sense of their lives by accepting, without question, Gods ordinances for them. The varieties of atheism are numerous, but all atheists reject such a set of beliefs.

Atheism, however, casts a wider net and rejects all belief in spiritual beings, and to the extent that belief in spiritual beings is definitive of what it means for a system to be religious, atheism rejects religion. So atheism is not only a rejection of the central conceptions of Judaism, Christianity, and Islam; it is, as well, a rejection of the religious beliefs of such African religions as that of the Dinka and the Nuer, of the anthropomorphic gods of classical Greece and Rome, and of the transcendental conceptions of Hinduism and Buddhism. Generally atheism is a denial of God or of the gods, and if religion is defined in terms of belief in spiritual beings, then atheism is the rejection of all religious belief.

It is necessary, however, if a tolerably adequate understanding of atheism is to be achieved, to give a reading to rejection of religious belief and to come to realize how the characterization of atheism as the denial of God or the gods is inadequate.

To say that atheism is the denial of God or the gods and that it is the opposite of theism, a system of belief that affirms the reality of God and seeks to demonstrate his existence, is inadequate in a number of ways. First, not all theologians who regard themselves as defenders of the Christian faith or of Judaism or Islam regard themselves as defenders of theism. The influential 20th-century Protestant theologian Paul Tillich, for example, regards the God of theism as an idol and refuses to construe God as a being, even a supreme being, among beings or as an infinite being above finite beings. God, for him, is being-itself, the ground of being and meaning. The particulars of Tillichs view are in certain ways idiosyncratic, as well as being obscure and problematic, but they have been influential; and his rejection of theism, while retaining a belief in God, is not eccentric in contemporary theology, though it may very well affront the plain believer.

Second, and more important, it is not the case that all theists seek to demonstrate or even in any way rationally to establish the existence of God. Many theists regard such a demonstration as impossible, and fideistic believers (e.g., Johann Hamann and Sren Kierkegaard) regard such a demonstration, even if it were possible, as undesirable, for in their view it would undermine faith. If it could be proved, or known for certain, that God exists, people would not be in a position to accept him as their sovereign Lord humbly on faith with all the risks that entails. There are theologians who have argued that for genuine faith to be possible God must necessarily be a hidden God, the mysterious ultimate reality, whose existence and authority must be accepted simply on faith. This fideistic view has not, of course, gone without challenge from inside the major faiths, but it is of sufficient importance to make the above characterization of atheism inadequate.

Finally, and most important, not all denials of God are denials of his existence. Believers sometimes deny God while not being at all in a state of doubt that God exists. They either willfully reject what they take to be his authority by not acting in accordance with what they take to be his will, or else they simply live their lives as if God did not exist. In this important way they deny him. Such deniers are not atheists (unless we wish, misleadingly, to call them practical atheists). They are not even agnostics. They do not question that God exists; they deny him in other ways. An atheist denies the existence of God. As it is frequently said, atheists believe that it is false that God exists, or that Gods existence is a speculative hypothesis of an extremely low order of probability.

Yet it remains the case that such a characterization of atheism is inadequate in other ways. For one it is too narrow. There are atheists who believe that the very concept of God, at least in developed and less anthropomorphic forms of Judeo-Christianity and Islam, is so incoherent that certain central religious claims, such as God is my creator to whom everything is owed, are not genuine truth-claims; i.e., the claims could not be either true or false. Believers hold that such religious propositions are true, some atheists believe that they are false, and there are agnostics who cannot make up their minds whether to believe that they are true or false. (Agnostics think that the propositions are one or the other but believe that it is not possible to determine which.) But all three are mistaken, some atheists argue, for such putative truth-claims are not sufficiently intelligible to be genuine truth-claims that are either true or false. In reality there is nothing in them to be believed or disbelieved, though there is for the believer the powerful and humanly comforting illusion that there is. Such an atheism, it should be added, rooted for some conceptions of God in considerations about intelligibility and what it makes sense to say, has been strongly resisted by some pragmatists and logical empiricists.

While the above considerations about atheism and intelligibility show the second characterization of atheism to be too narrow, it is also the case that this characterization is in a way too broad. For there are fideistic believers, who quite unequivocally believe that when looked at objectively the proposition that God exists has a very low probability weight. They believe in God not because it is probable that he existsthey think it more probable that he does notbut because belief is thought by them to be necessary to make sense of human life. The second characterization of atheism does not distinguish a fideistic believer (a Blaise Pascal or a Soren Kierkegaard) or an agnostic (a T.H. Huxley or a Sir Leslie Stephen) from an atheist such as Baron dHolbach. All believe that there is a God and God protects humankind, however emotionally important they may be, are speculative hypotheses of an extremely low order of probability. But this, since it does not distinguish believers from nonbelievers and does not distinguish agnostics from atheists, cannot be an adequate characterization of atheism.

It may be retorted that to avoid apriorism and dogmatic atheism the existence of God should be regarded as a hypothesis. There are no ontological (purely a priori) proofs or disproofs of Gods existence. It is not reasonable to rule in advance that it makes no sense to say that God exists. What the atheist can reasonably claim is that there is no evidence that there is a God, and against that background he may very well be justified in asserting that there is no God. It has been argued, however, that it is simply dogmatic for an atheist to assert that no possible evidence could ever give one grounds for believing in God. Instead, atheists should justify their unbelief by showing (if they can) how the assertion is well-taken that there is no evidence that would warrant a belief in God. If atheism is justified, the atheist will have shown that in fact there is no adequate evidence for the belief that God exists, but it should not be part of his task to try to show that there could not be any evidence for the existence of God. If the atheist could somehow survive the death of his present body (assuming that such talk makes sense) and come, much to his surprise, to stand in the presence of God, his answer should be, Oh! Lord, you didnt give me enough evidence! He would have been mistaken, and realize that he had been mistaken, in his judgment that God did not exist. Still, he would not have been unjustified, in the light of the evidence available to him during his earthly life, in believing as he did. Not having any such postmortem experiences of the presence of God (assuming that he could have them), what he should say, as things stand and in the face of the evidence he actually has and is likely to be able to get, is that it is false that God exists. (Every time one legitimately asserts that a proposition is false one need not be certain that it is false. Knowing with certainty is not a pleonasm.) The claim is that this tentative posture is the reasonable position for the atheist to take.

An atheist who argues in this manner may also make a distinctive burden-of-proof argument. Given that God (if there is one) is by definition a very recherch realitya reality that must be (for there to be such a reality) transcendent to the worldthe burden of proof is not on the atheist to give grounds for believing that there is no reality of that order. Rather, the burden of proof is on the believer to give some evidence for Gods existencei.e., that there is such a reality. Given what God must be, if there is a God, the theist needs to present the evidence, for such a very strange reality. He needs to show that there is more in the world than is disclosed by common experience. The empirical method, and the empirical method alone, such an atheist asserts, affords a reliable method for establishing what is in fact the case. To the claim of the theist that there are in addition to varieties of empirical facts spiritual facts or transcendent facts, such as it being the case that there is a supernatural, self-existent, eternal power, the atheist can assert that such facts have not been shown.

It will, however, be argued by such atheists, against what they take to be dogmatic aprioristic atheists, that the atheist should be a fallibilist and remain open-minded about what the future may bring. There may, after all, be such transcendent facts, such metaphysical realities. It is not that such a fallibilistic atheist is really an agnostic who believes that he is not justified in either asserting that God exists or denying that he exists and that what he must reasonably do is suspend belief. On the contrary, such an atheist believes that he has very good grounds indeed, as things stand, for denying the existence of God. But he will, on the second conceptualization of what it is to be an atheist, not deny that things could be otherwise and that, if they were, he would be justified in believing in God or at least would no longer be justified in asserting that it is false that there is a God. Using reliable empirical techniques, proven methods for establishing matters of fact, the fallibilistic atheist has found nothing in the universe to make a belief that God exists justifiable or even, everything considered, the most rational option of the various options. He therefore draws the atheistical conclusion (also keeping in mind his burden-of-proof argument) that God does not exist. But he does not dogmatically in a priori fashion deny the existence of God. He remains a thorough and consistent fallibilist.

Such a form of atheism (the atheism of those pragmatists who are also naturalistic humanists), though less inadequate than the first formation of atheism, is still inadequate. God in developed forms of Judaism, Christianity, and Islam is not, like Zeus or Odin, construed in a relatively plain anthropomorphic way. Nothing that could count as God in such religions could possibly be observed, literally encountered, or detected in the universe. God, in such a conception, is utterly transcendent to the world; he is conceived of as pure spirit, an infinite individual who created the universe out of nothing and who is distinct from the universe. Such a realitya reality that is taken to be an ultimate mysterycould not be identified as objects or processes in the universe can be identified. There can be no pointing at or to God, no ostensive teaching of God, to show what is meant. The word God can only be taught intralinguistically. God is taught to someone who does not understand what the word means by the use of descriptions such as the maker of the universe, the eternal, utterly independent being upon whom all other beings depend, the first cause, the sole ultimate reality, or a self-caused being. For someone who does not understand such descriptions, there can be no understanding of the concept of God. But the key terms of such descriptions are themselves no more capable of ostensive definition (of having their referents pointed out) than is God, where that term is not, like Zeus, construed anthropomorphically. (That does not mean that anyone has actually pointed to Zeus or observed Zeus but that one knows what it would be like to do so.)

In coming to understand what is meant by God in such discourses, it must be understood that God, whatever else he is, is a being that could not possibly be seen or be in any way else observed. He could not be anything material or empirical, and he is said by believers to be an intractable mystery. A nonmysterious God would not be the God of Judaism, Christianity, and Islam.

This, in effect, makes it a mistake to claim that the existence of God can rightly be treated as a hypothesis and makes it a mistake to claim that, by the use of the experimental method or some other determinate empirical method, the existence of God can be confirmed or disconfirmed as can the existence of an empirical reality. The retort made by some atheists, who also like pragmatists remain thoroughgoing fallibilists, is that such a proposed way of coming to know, or failing to come to know, God makes no sense for anyone who understands what kind of reality God is supposed to be. Anything whose existence could be so verified would not be the God of Judeo-Christianity. God could not be a reality whose presence is even faintly adumbrated in experience, for anything that could even count as the God of Judeo-Christianity must be transcendent to the world. Anything that could actually be encountered or experienced could not be God.

At the very heart of a religion such as Christianity there stands a metaphysical belief in a reality that is alleged to transcend the empirical world. It is the metaphysical belief that there is an eternal, ever-present creative source and sustainer of the universe. The problem is how it is possible to know or reasonably believe that such a reality exists or even to understand what such talk is about.

It is not that God is like a theoretical entity in physics such as a proton or a neutrino. They are, where they are construed as realities rather than as heuristically useful conceptual fictions, thought to be part of the actual furniture of the universe. They are not said to be transcendent to the universe, but rather are invisible entities in the universe logically on a par with specks of dust and grains of sand, only much, much smaller. They are on the same continuum; they are not a different kind of reality. It is only the case that they, as a matter of fact, cannot be seen. Indeed no one has an understanding of what it would be like to see a proton or a neutrinoin that way they are like Godand no provision is made in physical theory for seeing them. Still, there is no logical ban on seeing them as there is on seeing God. They are among the things in the universe, and thus, though they are invisible, they can be postulated as causes of things that are seen. Since this is so it becomes at least logically possible indirectly to verify by empirical methods the existence of such realities. It is also the case that there is no logical ban on establishing what is necessary to establish a causal connection, namely a constant conjunction of two discrete empirical realities. But no such constant conjunction can be established or even intelligibly asserted between God and the universe, and thus the existence of God is not even indirectly verifiable. God is not a discrete empirical thing or being, and the universe is not a gigantic thing or process over and above the things and processes in the universe of which it makes sense to say that the universe has or had a cause. But then there is no way, directly or indirectly, that even the probability that there is a God could be empirically established.

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atheism | Definition, Philosophy, & Comparison to ...

Atheism – Simple English Wikipedia, the free encyclopedia

Atheism is rejecting the belief in a god or gods. It is the opposite of theism, which is the belief that at least one god exists.A person who rejects belief in gods is called an atheist.Theism is the belief in one or more gods. Adding an a, meaning "without", before the word theism results in atheism, or literally, "without theism".. Atheism is not the same as agnosticism: agnostics say that ...

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atheism r/atheism – reddit: the front page of the internet

This happened around last year when they just found out that i was an atheist. My parents sat down with me (and for some reason they roped my brother in too) to kinda talk it out with them, the why and how and all that.

So my father was talking about how god had blessed him and his family with a luxurious and comfortable life. I, thinking that my parents would hear me out since they got out of their own way just to talk about religion with us, told them that i believed that they worked hard and earned the money themselves.

Surprisingly enough, my father immediately blew his top off and yelled at me, insisting that it was by god's grace that we are now able to live such a good life. He then, for some reason told me that my ability to draw was a god-given talent. Naturally, i was pissed. After all, i went to years and years of art class just to be able to draw like i do now, though it only looks nice in my family's standards since i'm the only one in my family that can draw. But i didn't say anything back since i don't want to start another war with m parents.

Seriously, if it really was just god's grace that allowed my family to live comfortably, why have i never seen god just bestow upon my father a paycheck? Why is it that he's so happy about having all his hard work credited to an invisible sky daddy? Call me greedy or selfish, but if someone took all the credit to my hard work i'd be bloody pissed. But hey, thanks for reading this.

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