Lifestyle choices condition colon and rectal cancer risk more than genetics – Medical Xpress

March 7, 2017 Dr. Moreno’s team. Credit: IDIBELL

Researchers of the Colorectal Cancer research group of Bellvitge Biomedical Research Institute (IDIBELL), led by Dr. Vctor Moreno, and linked to the Catalan Institute of Oncology (ICO), the University of Barcelona (UB) and the Epidemiology and Public Health CIBER (CIBEResp), have issued the first predictive risk model of colon and rectal cancer based on Spanish data that combines genetic and lifestyle information. Their work, published by Scientific Reports, highlights the importance of improving lifestyle to reduce the risk of colon cancer and suggests to use a combination of lifestyle and genetic information to subdivide the population into different groups according to their colon cancer risk, which would fine tune the current screening method.

“A risk model is a mathematical tool that allows us to predict who is most likely to suffer from a particular disease, in this case colon cancer,” explains Dr. Moreno, head of ICO’s Cancer Prevention and Control Program. In order to develop this model, the researchers used data from the 10,106 participants included in the “MCC-Spain” Spanish multicentre study, carried out collectively by researchers belonging to CIBEResp. All of them were interviewed to analyze known risk factors (diet, physical exercise, body mass index, alcohol and family history of cancer, among others) and in a subgroup of 1,336 cases of colorectal cancer and 2,744 controls a blood test was performed to detect the genetic predisposition to develop colon and rectal cancer.

With all this information, the research team concluded that lifestyle influences cancer risk more than genetics. They calculated that if a risky lifestyle choice is changed (for example, if a healthy weight is obtained), this can compensate for having 4 genetic risk predisposition points (risk alleles). “This is important considering that lifestyle, unlike genetic traits, is somewhat modifiable, while genetic susceptibility is inherited from our parents”, says Dr. Gemma Ibez, a digestologist and first author of the study; “In fact, the items we have identified as risk markers correlate with the recommendations set by the European Cancer Code to reduce the risk of cancer.”

“Today, screening for colon cancer in patients with no family history is based solely on age. If we include information about lifestyle and genetics, we could classify the population into groups of greater or lesser risk, which would allow us to offer a more personalized follow-up”, adds Dr. Moreno, who is also a professor at the UB Faculty of Medicine and Health Sciences.

At the moment, the research team that participated in the study is conducting a new study called COLSCREEN: “Personalization of the risk of colorectal cancer” to, among other things, find out about the social perception about genetic screening. “There are no studies that say what patients think about genetic tests, or whether they want to be informed of their chances of having certain diseases, and we think it is very relevant,” says Dr. Ibanez. At the same time, with this new study the researchers want to evaluate the utility of the risk score system for colon cancer by applying it prospectively in the population of Baix Llobregat.

Explore further: Men with high genetic chance of bowel cancer could have lower risk with healthy lifestyles

More information: Gemma Ibez-Sanz et al, Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study, Scientific Reports (2017). DOI: 10.1038/srep43263

Men with a high genetic risk of developing bowel cancer over the next 25 years could have a lower risk of developing the disease if they also have a healthy lifestyle, according to a Cancer Research UK-funded study published …

(HealthDay)While it’s well known that healthy living can lower the odds for colon cancer, a new study finds it’s even true for men whose DNA puts them at high risk for the disease.

Researchers have identified common genetic traits that may explain how aspirin can help protect against colon cancer.

Precision medicine’s public face is that of diseaseand better treatments for that disease through targeted therapies.

Men are more likely to develop colorectal cancer or its precursors than women. A new study conducted by MedUni Vienna shows that known risk factors do not explain this difference between the sexes. However, the research team …

(HealthDay)Incorporation of a genetic risk score can improve the accuracy of colorectal cancer (CRC) risk determination, according to a study published in the June issue of Gastroenterology.

A drug already used to slow tumor growth may also prevent infertility caused by standard chemotherapies, according to a study published online March 6 in the Proceedings of the National Academy of Sciences.

The featured clinical investigation article of the March 2017 issue of the Journal of Nuclear Medicine demonstrates that the PET radiotracer fluciclovine (fluorine-18; F-18) can help guide and monitor targeted treatment for …

Bioengineers at the University of California San Diego have developed a new blood test that could detect cancerand locate where in the body the tumor is growing.

The National Cancer Institute’s “cancer moonshot” tasks researchers with, among advancing other new biotechnologies, delving into immunotherapy and epigenomic analysis.

The Institute of Biological and Medical Imaging at Helmholtz Zentrum Mnchen is heading the “Hybrid optical and optoacoustic endoscope for esophageal tracking” (ESOTRAC) research project, in which engineers and physicians …

A pilot study by University of Otago researchers suggests that people with colorectal cancer that have a certain type of immune cell in their tumour may have increased survival rates.

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Lifestyle choices condition colon and rectal cancer risk more than genetics – Medical Xpress

Michigan Medicine opens first clinic in the United States that focuses on prostate cancer risk – News-Medical.net

March 3, 2017 at 9:52 PM

It’s well known that women with certain hereditary genetic mutations, particularly BRCA1 and BRCA2, have an increased risk of breast cancer. But in recent years, researchers have discovered a link between some of those same genetic mutations – along with a handful of others – and aggressive prostate cancer.

And while there are high risk breast cancer clinics across the country providing individualized and structured care for people with a predisposition to breast cancer, there has been no corollary for men with a genetic predisposition to prostate cancer. Until now.

Todd Morgan, M.D., is the Michigan Medicine urological surgeon behind a new Prostate Cancer Risk Clinic at the University of Michigan. It’s the first of its kind in the nation.

“Even though there are high risk breast cancer clinics all over the country and all over the world, there are, as far as we know, no other clinics like this in the United States focused on prostate cancer risk,” says Morgan. “No one else has turned the corner and said, you know, wait a minute – men really need the same thing that’s already available for women.”

Genetic testing can help identify those at risk

The clinic is for men who have already been tested and identified as having a hereditary mutation that predisposes them to prostate cancer. This might include mutations more traditionally associated with breast cancer or colorectal cancer.

“Typically these are men who have a strong family history of aggressive prostate cancer or a family history of prostate cancer in their dad or siblings at a really young age. Those are often signs of a potential inherited cause of that prostate cancer,” Morgan says.

Having a strong family history of breast or ovarian cancer, or close relatives with a genetic predisposition to breast cancer could be another warning sign that can motivate men to be tested for genetic mutations.

“Another example would be Lynch Syndrome, which predisposes to colorectal cancer,” says Morgan. “This affects men and women, and people with a family history or who have been diagnosed with colon cancer at a young age are often tested. Those guys coming to see us would likely have already been seen in our Cancer Genetics Clinic by an expert such as Dr. Elena Stoffel. Over the last 10 years we’ve realized that men with one of the mutations that predisposes to Lynch Syndrome are also predisposed to aggressive prostate cancer.”

A recent study found that 12 percent of men with metastatic cancer had genetic mutations, supporting the need for a personalized early detection program in men with these mutations.

Prostate cancer diagnoses on the decline

Morgan says that prostate cancer diagnosis has been on the decline since the United States Preventative Services Task Force advised against PSA screening for healthy men. Since that recommendation was released five years ago, there has been a precipitous drop in the diagnosis of both low-risk, indolent prostate cancer, which probably does not need to be treated, and aggressive prostate cancer, which really does need to be diagnosed and treated.

Criticisms of the accuracy of the PSA test are fair, says Morgan. But he points out that there are better, more accurate tests on the market, which he will be employing at the prostate cancer risk clinic to help determine the need for a prostate biopsy, including SelectMDx, a new urine-based biomarker.

The first of its kind in the nation

Once a man has identified, through genetic testing, that he has a genetic mutation that puts him at a higher risk for aggressive prostate cancer, he will meet with a urologic oncologist to discuss his cancer risk relative to the mutation that he has. The team at the prostate cancer risk clinic will then develop an individualized screening process for him.

“Typically, patients are going to be recommended to undergo a screening just once a year,” says Morgan. “It will become part of their regular annual health routine. We’re going to make sure we understand their family history. From a preventative care perspective, we’re going to make sure we understand if they’re doing anything that is going to increase their risk of prostate cancer. If they’re smoking, overweight or not exercising, we’ll discuss that with them and provide counseling options.”

Blood and urine tests will be part of the annual screening. If the results indicate that a biopsy is recommended, the 15-minute outpatient procedure can take place in the clinic.

And if the biopsy suggests prostate cancer, the team at the clinic can help them walk through management options.

“Prostate cancer is the second leading cause of cancer deaths among men in the United States,” says Morgan. “We now, more than ever, have an understanding of which men have cancer that needs to be treated and which men have cancer that can be closely watched. These men who have inherited mutations are much more likely to have aggressive prostate cancer. We know that treatment of aggressive prostate cancer works — it prevents death and suffering from prostate cancer. That’s what this is about more than anything else: preventing death and suffering from prostate cancer.”

For more information on the Prostate Cancer Genetics Clinic, call the Cancer AnswerLine at 800-865-1125.

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Michigan Medicine opens first clinic in the United States that focuses on prostate cancer risk – News-Medical.net

At forefront of digital healthcare revolution: Discovery Health helps reinvent way medicine is practiced. – BizNews

The digital revolution is changing the way doctors work. Within the next few years, doctors workloads will be reduced, healthcare costs will be slashed, and diagnoses will be faster as the digital healthcare innovation reinvents the way medicine is practiced. Billions of rand will be saved as advances in technology are embraced by the medical fraternity. The new technology will empower patients to take responsibility for their health. This is not science fiction; its a growing reality. People are already able to wear a device that monitors their activity, checking how much exercise or sleep theyre getting. They can swallow tiny devices that monitor the gut biome, stress levels, insulin levels and transmit valuable data to their doctors who can make early diagnoses of potential health risks. More than a decade ago, Google was a search engine and Amazon was an online book store. Now they are at the forefront of the revolution in digital healthcare with their data-rich innovations that enable doctors to discover patterns and causes of diseases. In South Africa, Discovery Health has embraced the changes in technology and uses its own Vitality member data to advance this new approach to medicine. David OSullivan spoke to Deputy CEO Ryan Noach about Discovery Healths initiatives.

Ryan, what are we talking about when we speak about digital healthcare, whats that all about?

Much like many other industries around the world, David, the world of healthcare is being completely revamped by some of the innovation in the digital sector. Right across the healthcare chain were seeing majorly exciting developments that are just changing the way we diagnose and treat disease, the way patients interact with doctors, and the way medical records are stored. To be honest, my view is that healthcare has been too slow to embrace some of these trends, but Im quite sure that in years to come the way healthcare is going to be delivered will look different and be practiced differently than it is today.

My initial assumption was, if were talking about digital healthcare, it meant going onto the internet and diagnosing myself with whatever illness might prevail. I thought that might be dangerous, but its not doing that is it, its using technology to empower patients. Flesh it out for me Ryan, what is it that patients use, how does the technology work to give doctors the correct data to help them with an accurate diagnosis?

Well, the consumer element that youre talking about is very popular and becoming more and more popular, and there are a large number of online sources of medical information that consumers use every day. Ive heard doctors talking to each other saying to patients, Dont confuse your Google search with my medical degree, which is said in jest, but actually there is this consumerism happening around the world where consumers (and we believe strongly at Discovery), should become much more proactive about their healthcare. Healthcare is unfortunately a situation where theres a real asymmetry of information. The patients are generally not well-informed; its a complex situation and they frequently are scared.

The doctors are typically very well-informed and so digital healthcare is crossing some of this divide and ensuring that there is much better symmetry of information, and that patients have reliable information at their fingertips. One of the things were seeing is the evolution of artificial intelligence which is already changing doctors jobs. Today, patients search online for answers, but artificial intelligence that uses very smart cognitive engines that have ingested huge volumes of data in the background can provide you with an accurate answer with very high confidence intervals. At Discovery were investing in one such service, which we will provide to Discovery members later this year.

This artificial intelligence engine is supported by many thousands of doctors around the world and we hope by many thousands of doctors in South Africa, which is able to answer a range of questions with a very high confidence interval. So certainly that is one part of it, but the other part of it that you were asking about is how does it help doctors make diagnoses? At the most simple level we see that central to a good diagnosis is having all the information at your fingertips. Electronic health records which have centralised the recording of all clinical data in one place and given the doctors via their smartphones, their tablets or web access, immediate comprehensive clinical history for the patient theyre treating, is extremely powerful in and of itself. We see anecdotes. Discovery Health ID is an application that does this for doctors.

We have 2,200 of our doctors using it every day in their practices and we see anecdotes every day of how this changes doctors practices. Ill give you some concrete examples just to make it real. A dermatologist told us recently that a rash that he had been unable to diagnose, when he looked at the electronic health record on Health ID, he recognised that in fact, the timing of the rash was related to a medicine, a drug prescribed by a doctor which the patient had forgotten to tell him about. He was able to immediately link the rash to the medicine, and attributed it to an adverse drug interaction and resolved that situation. Sometimes there are far more serious circumstances.

We heard of an anaesthetist recently who was about to put a child to sleep for a simple anaesthetic and looked at the Health ID record on the Discovery Health ID platform and found that there was a critical cardiac defect that this child had that the mother had in her anxiety about the procedure completely forgotten to tell the anaesthetist about. It changed the way he delivered the anaesthetic. So from the relatively minor to the seriously important interventions, this centralisation of records is critical.

Weve seen three waves of digital innovation in healthcare. The first starting in the early 2000s was driven by the availability of 3G and devices becoming much more portable. This enabled telemedicine, where one was able to get a consultation remotely which has certainly changed the way doctors have delivered care and consultations in remote places. The second wave, which started around 2010 or just before, really related to the electronic health records that I have been talking about. Were right in the teeth of the third wave of digitisation now, which is much more about empowering the consumer. Its about using Big Data to find disease inflection points, where diseases are going to get worse, where patients are at risk on a personalised basis. It is about combining health risk factors with genetic information to understand an individuals risk profile and using artificial intelligence to support diagnostics, and then connecting the doctor and the patient to each other in a very seamless and portable way.

Im also impressed with the technology thatll empower patients to take responsibility. The wearable or even ingestible automatic devices that monitor and transmit relevant information, tell me a bit more about that.

This term has been coined, the quantified self and patients are really able these days (I shouldnt say patients), people are really able these days to measure everything about themselves. I wear a wearable device every day, I measure how many steps I take, I look at my heart rate through the day, I measure the intensity of my exercise and these wearables are advancing to be able to measure stress, to track your sleep, to track all aspects of your behaviour and we really are able to quantify everything around ourselves through these sophisticated sensors.

As you say, they have advanced to the point where now there are ingestible sensors too. You swallow a pill, its a smart pill and its able to make all sorts of measurements and readings inside your intestines and transmit that through Bluetooth or another mechanism to a device externally and so you can make diagnosis from the inside out. Ultimately, our view is that this quantified self-environment, all these different measures will be combined with genetic measures or precision medicine to really personalise healthcare. Itll mean that for a particular individual, your own personal physiology which is being measured, your own personal diagnostics in the context of your genetic makeup will really mean that you can get a personal healthcare tailored solution to your particular risks and needs.

In South Africa, do the medical aid schemes keep pace with the technology; do they understand that, does the council for medical schemes understand what is happening with increased digitisation around the world?

I think everybody in the healthcare sector is feeling this digitisation and its impossible to hold it back. Its being thrust upon us and consumers are adopting it broadly everywhere. I can only speak for Discovery and at Discovery weve really embraced these technology trends in a large way. Weve delivered Discovery Health ID for four years now. Over the four years its been a hard process of changing the way doctors consult with patients to get them to use a digital interface as part of the consultation process. But as I said earlier were now seeing doctors very engaged and more than 2,000 of them are using it every single day and a large number are using it intermittently. It really means results at their fingertips. So in terms of that second wave weve been successful.

From the quantified-self perspective, our Vitality Active Rewards Benefit, which uses the Apple watch as the wearable device (which you can get for free on a fully funded basis if youre continually active), has meant that weve seen a huge number of people, 300,000 of our members in a very short space of time actively measuring and tracking their physical activity, and being incentivised through weekly rewards that we offer to meet targets. Weve seen a precipitous improvement, (way beyond what we actually ever expected, to be frank), in the activity levels of these members. Weve seen on average, a 24 percent increase in the activity levels of all Active Rewards members and for those wearing the wearable device, the Apple watch in our context, their activity has increased by almost 80 percent.

Tell me about the investment in DNA sequencing. I see that in the United States it received R55bn in funding last year alone, thats a phenomenal amount of money. It seems that people can send saliva samples for analysis to quantify their genetic susceptibility to a wide range of diseases. Is that something that is encouraged here in South Africa?

Yes, its a rapidly evolving side of medicine and I think if I were back at medical school today that would probably be the field I would want to choose as the explosive growth field. Just over two years ago we were nowhere near as advanced as we are today. There are two things happening. Firstly theyre recognising more and more of the important sites within the genetic DNA. Within the DNA makeup that are relevant sites in respective diseases and risk factors, and so this is a big mapping exercise of millions and millions of data streams to try and find exactly which part of your genome, your genes are responsible for a risk or a health issue. The second part of it is that because its becoming so commoditised its becoming much more affordable. Therefore, we have more information thats more accessible and you can imagine what that means for diagnostics and for interventions.

In many parts of the world now its routinely screened. In South Africa, thats not the case yet its certainly not routine. There are very few sites (two that I know of in South Africa), that are able to sequence the full genome (in other words, the mapped out portion of the DNA) and they are still for research purposes. They are not being used commercially yet, so most of the sequencing in South Africa is actually being done overseas where a full exome sequence is required. In oncology medicine the treatment of certain tumours is now very closely linked to the genetic makeup of those tumours and so it has become routine, including in South Africa to do genetic analysis of many of the tumours for cancer treatment plans.

So for somebody who wants to embrace the technology, is the Apple watch one of the fundamental starting points?

Well, it doesnt have to be the Apple watch. Weve partnered Apple as a leading technology supplier, but we do partner with other wearable suppliers too.. Our data demonstrates a material improvement in physical activity and engagement in physical activity, or understanding of what your body is doing and needing through the use of a wearable device. So I would say, get on the train and join this quantified-self world, get a wearable and track your behaviour day-to-day.

Wheres the best place to get information, the Discovery website?

The Discovery website certainly the Active Rewards Page has a lot of information about this and if you go to a reliable Google site and you Google wearable devices, theres a fortune of information there.

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At forefront of digital healthcare revolution: Discovery Health helps reinvent way medicine is practiced. – BizNews

Invitae CEO wants to democratize genetic testing – MedCity News


MedCity News
Invitae CEO wants to democratize genetic testing
MedCity News
We are in the early days of precision medicine but it is on the back of widespread gene testing that promise of this approach of treating diseases stands. And there are plenty of companies offering some kind of gene testing on the tumor DNA

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Invitae CEO wants to democratize genetic testing – MedCity News

What Molecular and Genetic Testing Labs Need to Know to Succeed with Commercialization of Their Precision … – DARKDaily.com – Laboratory News

Webinar Wednesday,March22, 2017 at 1:00 PM EDT Gaining Network Status, Demonstrating Clinical Utility, Marketing to Cash Buyers, and Other Essentials

One of healthcares unheralded stories is good news for molecular and genetic testing laboratories, along with hospital/health system labs that already have instruments capable of performing these tests! Day-by-day, ever more physicians begin to include elements of precision medicine in their clinical practice, thus requiring them to use molecular and genetic tests.

Physician demand for these tests is robust and will continue to increase for a powerful reason: patients want the benefits from a diagnostic test that delivers a more accurate diagnosis while pointing the doctor to the right therapy that will benefit the patient while minimizing side effects.

These are just two reasons why it is imperative that every clinical laboratory and pathology group have a strategy for how it will serve precision medicine. Tests in support of precision medicine will be the fastest-growing sector of laboratory medicine for years to come. Thats why labs need a strategy that addresses these elements:

1) Which type of precision medicine tests will the lab emphasize?

2) Can it run these tests on existing lab analyzers, or will it need to acquire new instruments?

3) Are there existing physician-champions of precision medicine in the labs service area who are respected as clinical leaders and willing to share their patient care successes with colleagues?

4) Can the lab profitably collaborate/partner with labs and companies that already have proven assays, robust informatics capabilities, and similar tools needed to provide tests that support precision medicine?

5) Are there payers in the labs regional market that have existing coverage guidelines for the types of precision medicine tests the lab wants to provide? Are the targeted types of precision medicine tests covered by existing managed care contracts?

These important questions about strategy will be among the topics to be covered at what may be the most important webinar about precision medicine lab testing that has yet been delivered to the clinical laboratory industry. The webinar is titled, What Molecular and Genetic Testing Labs Need to Know to Succeed with Commercialization of Their Precision Medicine Products, and takes place Wednesday, March 22, at 1 PM EDT.

Your experts will emphasize the two vital success factors for a labs precision medicine test program. For the clinical and operational issues involved in selecting, performing, reporting, and business development to generate specimen referrals, the speakers are Don Rule, CEO, and Yoav Sibony, Vice President of Sales & Marketing, at Translational Software in Bellevue, WA. Translational Software currently provides a full range of services to more than 80 client labs and health organizations that includes annotating and analyzing molecular and genetic test data, helping labs define genetic panels relevant to the labs clinicians and augmenting existing panels with interpretation, plus other capabilities.

Next, for the important issue of how to get paid for your labs molecular and genetic tests, the speaker is Kyle Fetter, Vice President of Advanced Diagnostics at XIFIN, Inc. in San Diego, CA. XIFIN is one the nations largest providers of revenue cycle management services to clinical laboratories, pathology groups, and molecular/genetic testing companies.

Fetter brings an informed perspective to the topic of helping your lab get paid because XIFIN handles several hundreds of millions of lab test claims for its client labs each year. It has electronic interfaces with every health insurance plan in the United States and thus knows the coverage guidelines and criteria needed for molecular and genetic test claims to be successfully adjudicated and reimbursed to the submitting molecular and genetic testing lab company.

And theres more! Hospital and health system labs are in for a positive surprise. During his presentation, Rule will discuss how existing lab instruments can be used to perform precision medicine testing, thus giving hospital labs a way to generate more specimen referrals while becoming an essential clinical partner with physicians in the inpatient, outreach, and outpatient settings.

Indeed, you and your lab team will be gaining information from three experts with deep experience in the still-young clinical market for precision medicine testing. You will hear up-to-the-minute reports about which areas of precision medicine are growing fastest, including cancer testing and pharmacogenomic testing.

As an added bonus, at the conclusion of the presentation there will be a Q&A period during which youll be able to submit your own specific questions to our expert panel. This segment of the webinar represents particularly high value for you and your lab team!

DATE: Wednesday, March 22, 2017

TIME: 1 PM EDT; 12 Noon CDT; 10 AM PDT

PLACE: Your computer and/or speakerphone

COST:$195 per site (unlimited attendance per site) through 3/10/17, $245 thereafter

TO REGISTER: Click here or call512-264-7103

Youll come away from this webinar with powerful insights about specific types of precision medicine tests that have accepted clinical evidence of utility and are thus becoming a standard of care. These are also the tests for which payers will most readily reimburse when utilized appropriately by physicians.

How to Register:1. Online 2. Call 512-264-7103.

Your orderincludes:

Register todayto take advantage of early-bird savings! For more information, call us at 512-264-7103.

She is a member of DxMA, ASM and AMP and was a Microbiology Supervisor before transitioning to the diagnostic industry.

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What Molecular and Genetic Testing Labs Need to Know to Succeed with Commercialization of Their Precision … – DARKDaily.com – Laboratory News

UC Merced professor finds genetic triggers related to cancer – Merced Sun-Star


Merced Sun-Star
UC Merced professor finds genetic triggers related to cancer
Merced Sun-Star
Everybody has a similar set of genes, but what makes us unique is their activity and, in a way, how the information is expressed, Filipp said. Targeting those newly identified genes and pathways could give researchers a new avenue for precision

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UC Merced professor finds genetic triggers related to cancer – Merced Sun-Star

Protecting Patients from Genetic Discrimination – The Scientist


The Scientist
Protecting Patients from Genetic Discrimination
The Scientist
In a 2015 article in the New England Journal of Medicine, medical geneticist Robert Green of Harvard analyzed the impacts of GINA seven years after the law's passage. He noted that virtually no cases of genetic insurance discrimination had been

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Protecting Patients from Genetic Discrimination – The Scientist

Six diseases reap benefits of biomarkers, genetic tests – ModernMedicine

Biomarker testing for harmful genetic mutations provides the opportunity to identify at-risk individuals who might benefit from risk modification strategies and/or enhanced disease screening. This may translate into preventing disease through risk reduction, prevention of advanced disease through earlier detection, and decreased cancer mortality from detection and treatment of localized disease, says Dennis Holmes, MD, breast cancer surgeon and interim director, Margie Petersen Breast Center at John Wayne Cancer Institute at Providence Saint Johns Health Center in Santa Monica, California.

Heres how biomarkers are currently being used to treat diseases, and what promises they hold.

Acute myeloid leukemia

For more than 40 years, acute myeloid leukemia (AML), a cancer of the blood and bone marrow, has been treated as one disease. The standard of care, which involved two toxic chemotherapy drugs, has not changed much over that time, says Ross Levine, MD, director, Memorial Sloan Kettering Center for Hematologic Malignancies, New York, New York. Most patients, especially older adults, do not respond well or cannot tolerate the treatment. The prognosis for most seniors with AML is very dismal.

However, an endeavor currently under way could improve patient outcomes. In conjunction with the FDA, the Leukemia & Lymphoma Society (LLS) launched a collaboration of cancer centers, pharmaceutical companies, and a genomics provider to design a protocol for the Beat AML Master Trial in October 2016 that will include multiple clinical sites and multiple treatment arms.

The Beat AML Master Trial is the first-ever precision medicine clinical trial in a blood cancer, where multiple drugs are tested simultaneously at multiple clinical sites. With a patient-focused neutral party such as LLS at the center, it eases the way for multiple pharmaceutical companies to join the collaboration to test their agents, Levine says.

Newly diagnosed patients can provide a bone marrow sample to a genomics laboratory and have their specific genetic mutations identified so clinicians can prescribe a more precisely targeted novel therapy matched to their subtype of AML.

Understanding a patients biomarker(s) helps clinicians make better decisions about appropriate drugs for an individual patient by targeting the drivers of the cancer and sparing the healthy cells, Levine explains.This trial aims, for the first time, to use these genetic markers to assign first-line therapy in real time, which we believe will accelerate our ability to get molecularly targeted drugs to AML patients at diagnosis and to accelerate drug development.

Reimbursement for testing is a rapidly moving target. We are waiting to see how the government handles reimbursement of such tests and hope that genetic testing will soon be covered for all cancer patients, Levine says.

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Six diseases reap benefits of biomarkers, genetic tests – ModernMedicine

Justice minister seeks input from premiers on genetic discrimination bill – Medicine Hat News

By Joanna Smith, The Canadian Press on March 1, 2017.

OTTAWA Justice Minister Jody Wilson-Raybould wants to know whether Canadas premiers think barring insurance providers from asking clients to disclose the results of genetic testing would stray too far into provincial jurisdiction.

In a letter to Yukon Premier Sandy Silver, current chair of the group known as the Council of the Federation, Wilson-Raybould says a number of provinces have a constitutional problem with parts of Bill S-201, which would add genetic characteristics as prohibited grounds of discrimination under the Canadian Human Rights Act.

Given the important constitutional issues in play, we call on the Council of the Federation to communicate its views on the constitutionality of Bill S-201s proposal to regulate all contracts, agreements, and goods and services to prohibit genetic discrimination, Wilson-Raybould wrote in the letter sent Wednesday.

The insurance industry has strongly opposed that aspect of the proposed legislation, which would make it illegal for anyone to require a person to undergo genetic testing, or disclose the results of previous tests, as a condition for signing or continuing an insurance policy or any other good, service, contract or agreement.

It would also prohibit anyone from sharing the results of someones genetic testing without their written consent, although there are exceptions for physicians and researchers.

Breaking the law could mean a fine of up to $1 million, or five years behind bars.

The unusual step of seeking formal input from the provinces and territories comes after the Liberal government brought forward amendments last month to remove those parts of the bill, arguing that MPs had a duty to respect the constitutional division of powers.

That move caught the opposition off guard, prompting both the Conservatives and the NDP to note that witnesses who appeared before the House of Commons justice committee studying the bill largely agreed it was constitutional.

It also surprised Liberal MP Rob Oliphant, who has shepherded the Senate bill through the House of Commons, who said at the time the changes would essentially gut this bill.

If they are passed, they would rob it of its ability to help all Canadians and limit its effect to very few, Oliphant said Feb. 14 in the Commons.

The Conservatives and the NDP are generally supportive of the bill and Oliphant said he also has support from many of his Liberal caucus colleagues.

Wilson-Raybould said she received letters of dissent from Quebec, Manitoba and B.C., but suggested there are still other opponents.

In direct communications with me and my office, other provinces have raised doubts about this legislation but have declined to take a public position, she wrote.

She said she wants the premiers to share their views by the time debate on the bill resumes in the House of Commons next week. A final vote on the bill could come as early as March 8.

In her letter, Wilson-Raybould expressed strong support for the part of the bill that would bring genetic discrimination under the Canadian Human Rights Act.

The knowledge obtained by a diagnostic test could lead to early medical decisions that reduce risk to Canadians health, Wilson-Raybould wrote.

These important advantages are liable to being frustrated if Canadians avoid such tests due to fear of genetic discrimination. It is imperative that we, as a country, take proactive measures to address this emerging human rights issue.

Wilson-Raybould also urged the premiers to tackle the issue within their own jurisdictions.

I am confident that we can add the prohibition of genetic discrimination to that proud human rights heritage.

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This well-known health-tech company has a new name – Nashville Business Journal

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Rob Metcalf, left, and Mark Harris of NextGxDx, now Concert Genetics

Lee Steffen

Say goodbye to NextGxDx and hello to Concert Genetics.

The buzzy Nashville-area health-tech company, a high-profile graduate of the city’s original startup accelerator, has rebranded. The name change reflects the company’s effort to bring a broader pool of stakeholders including clinicians, labs and, increasingly, health plans together (in “concert” as it were) to move genetic testing and precision medicine forward.

Rob Metcalf, left, and Mark Harris of NextGxDx, now Concert Genetics

Lee Steffen

“We’ve had the name NextGxDx for seven years now,” Mark Harris, founder and chief innovation of the genetic-testing marketplace company, said in an exclusive interview. “I think it served its purpose well.”

The company formerly known as NextGxDx, which offers a variety of tools to increase “transparency and efficiency in genetic testing,” as described in a news release, was founded by Harris in 2010. The company went through accelerator-turned-investment fund Jumpstart Foundry, and is often cited as one of the program’s most successful graduates and one of the area’s most promising health-tech ventures.

Now called Concert Genetics, the firm offers a searchable database of genetic tests for clinicians, along with products providing information and transparency around genetic testing to hospitals and health insurers.

Last summer, Harris gave up the CEO title at the young company. Rob Metcalf, formerly president of white-hot Franklin-based cognitive computing company Digital Reasoning, took over the top executive spot a little more than seven months ago, around which time the name-change conversation began.

“We started more or less when I came on board,” Metcalf said, explaining that he early on asked Harris if he’d consider a name that captured the “broader impact” of the company’s work.

The name “NextGxDx” was meant to reflect the way the company represented “the next step in genomics and diagnostics,” Harris said. But in the years since the company was founded, he continued, the market for precision medicine tools has grown and the company has broadened its customer base, most notably to include insurers, spurring the change.

Still, Metcalf said, the team “didn’t really set out to change the name.”

“We set out to figure out the strategy for growing the business,” he said.

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This well-known health-tech company has a new name – Nashville Business Journal

Ever been perscribed the wrong drug? This First Coast pharmacist has a genetic test to prevent it – Jacksonville Business Journal


Jacksonville Business Journal
Ever been perscribed the wrong drug? This First Coast pharmacist has a genetic test to prevent it
Jacksonville Business Journal
Depending on your genes, you could be a poor metabolizer, Intermediate, extensive (normal), or rapid metabolizer. Without testing for your polymorphisms, you and your doctor simply are guessing what medicine to try. Hopefully, you do not get the wrong …

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Ever been perscribed the wrong drug? This First Coast pharmacist has a genetic test to prevent it – Jacksonville Business Journal

Awards and Honors Across Weill Cornell Medicine – Cornell Chronicle

Dr. Iliyan Iliev, an assistant professor of immunology in medicine at Weill Cornell Medicine, has been awarded a one-year, $100,000 grant from the Kenneth Rainin Foundation to study the behavior of fungi in the immune system when patients with inflammatory bowel disease are administered a form of immunotherapy.

Dr. Iliev, who is also a scientist in the Jill Roberts Institute for Research in Inflammatory Bowel Disease, won the foundations 2016 Breakthrough Award for his study The Role of Mycobiota During Immunomodulatory Therapy for Inflammatory Bowel Disease. The foundation awarded Dr. Iliev an Innovator Award for the same study in 2015, and deemed his work worthy of further funding.

The Rainin Foundation provides early support to innovative ideas, like Dr. Ilievs, that have the potential to yield major insights into predicting and preventing inflammatory bowel disease. We are pleased to continue supporting Dr. Ilievs research and see how his findings will translate into meaningful health outcomes for people living with this disease, said Dr. Laura Wilson, director of health strategy and ventures for the Rainin Foundation.

The study is one of few that explores the composition and efficacy of fungal mycobiota while patients are administered immunosuppressive drugs.

There is a group of patients who have flares even though theyre on active immunosuppression therapy, Dr. Iliev said. So what are the triggers? Thats the question were thinking about.

While some fungi are harmful, others can be beneficial to the immune system, Dr. Iliev said. By investigating fungal behavior and identifying fungal population that might be involved in disease pathology, he hopes to bring greater clarity to the pathology of inflammatory bowel disease.

The Kenneth Rainin Foundation collaborates with creative thinkers in the arts, education and health sectors. Its health program supports novel, high-risk research and facilitates collaboration among researchers to enhance and accelerate discoveries in inflammatory bowel disease.

I went this past July to their Innovations Symposium, and it was outstanding, Dr. Iliev said. They invited people who really know the field and are able to make a difference, so Im very excited to work with them.

In addition to the Breakthrough Award, the Kenneth Rainin Foundation recently awarded Dr. Iliev and colleagues from Mount Sinai a $250,000 Synergy Award to examine the composition of the fungal community in babies born to mothers with inflammatory bowel disease. The investigators hope to better understand whether fungi can be transferred from mothers to babies and potentially contribute to disease later in life.

Dr. Lotfi Chouchane, a professor of genetic medicine and of microbiology and immunology, received a Regional Scientific Excellence Award from the UAE Genetic Diseases Association during the sixth International Genetic Disorders Conference on Oct. 22 in Dubai. Dr. Chouchane was recognized for his continued work on genetic disorders.

Dr. Byron Demopoulos, an associate professor of clinical medicine, on Nov. 19 won the Cayuga Medical Center-Weill Cornell Medicine Award from Cornell Community Relations for establishing a collaboration between Weill Cornell Medicine, Cayuga Medical Center and Ithaca-area physicians. Dr. Demopoulos won the award at the 2016 Town-Gown Awards in Ithaca.

Dr. Pamela Eliach, an assistant professor of medicine, on Oct. 6 was accepted into the 2017 Harvard Macy Institute Program for Educators in Health Professions. The program aims to enhance the professional development of physicians, basic scientists and other healthcare professionals as educators.

Dr. Melanie Ongchin, an assistance professor of surgery, was named a fellow of the American College of Surgeons during its convocation ceremony on Oct. 16 in Washington, D.C. The college is dedicated to improving the surgical care of patients and safeguarding standards of care in an optimal and ethical practice environment.

Dr. Heather Yeo, the Nanette Laitman Clinical Scholar in Healthcare Policy and Research/Clinical Evaluation and an assistant professor of surgery and of healthcare policy, won the James IV Traveling Scholar Award from the James IV Association of Surgeons. The association sponsors visiting fellowship opportunities for young surgeons from and to member countries. Dr. Yeos fellowship covers four weeks of travel over a two-year period and pays $15,000. She will travel to the United Kingdom, Australia, Hong Kong and possibly Japan to study treatment controversies of rectal cancer.

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Awards and Honors Across Weill Cornell Medicine – Cornell Chronicle

Genetic variant linked to overactive inflammatory response – Medical Xpress

February 28, 2017 Credit: Cardiff University

Researchers at Cardiff University have discovered that genetic variation is the reason why some immune systems overreact to viruses.

Previous research had already revealed that a gene called Ifitm3 influences how sensitive people are to the influenza virus, with a variant form of the gene making cells more susceptible to viral infection. The new research reveals that Ifitm3 also plays an important role in controlling the extent of the inflammatory response triggered by virus infection.

The study suggests that individuals with deficiencies in Ifitm3 may have an overactive immune response to viral infection and may therefore be helped by a combination of anti-inflammatory drugs in addition to medicine that directly targets the virus.

World-wide the frequency of the variant Ifitm3 gene is 1 in 400, although it is much more common in certain ethnicities.

Dr Ian Humphreys from Cardiff University’s School of Medicine said: “Now we know that genetic make-up influences how the immune system copes with infections, not only by influencing how the body controls an infection but also by controlling how strongly the body’s immune system reacts, we can design therapeutic strategies for individuals who are seriously ill with infections, which are tailored to the individual based on their genetic profile.”

The data were collected using immune cells from mice with and without the variant form of Ifitm3, to observe how the immune system responds to a virus called cytomegalovirus. The results could also be relevant for other viral infections such as influenza epidemics/pandemics.

Explore further: Genetics of flu susceptibility: Researchers find gene that can transform mild influenza to a life-threatening disease

More information: Maria A. Stacey et al. The antiviral restriction factor IFN-induced transmembrane protein 3 prevents cytokine-driven CMV pathogenesis, Journal of Clinical Investigation (2017). DOI: 10.1172/JCI84889

Researchers at Cardiff University have discovered that genetic variation is the reason why some immune systems overreact to viruses.

Scientists at Sanford Burnham Prebys Medical Discovery Institute (SBP) have identified a new regulator of the innate immune responsethe immediate, natural immune response to foreign invaders. The study, published recently …

A new discovery by researchers at the Fred Hutchinson Cancer Research Center in Seattle makes an important step in identifying which specific T cells within the diverse army of a person’s immune system are best suited to …

As much as we try to avoid it, we are constantly sharing germs with those around us. But even when two people have the same infection, the resulting illnesses can be dramatically differentmild for one person, severe or …

Scientists propose in Nature blocking a molecule that drives inflammation and organ damage in Gaucher and maybe other lysosomal storage diseases as a possible treatment with fewer risks and lower costs than current therapies.

If you’ve ever wondered how a vaccine given decades ago can still protect against infection, you have your plasma cells to thank. Plasma cells are long-lived B cells that reside in the bone marrow and churn out antibodies …

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Genetic variant linked to overactive inflammatory response – Medical Xpress

Schizophrenia begins in the womb, study suggests – Medical News Today

Researchers may be one step closer to determining the cause of schizophrenia, after uncovering an abnormal genetic process associated with the disease that begins in the womb.

By transforming skin cells from patients with schizophrenia into neuronal progenitor cells – cells that form neurons in early development – researchers identified an abnormal gene pathway called nuclear FGFR1 (nFGFR1) that impairs early brain development.

Senior study author Michal K. Stachowiak, Ph.D., of the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo in New York, and colleagues say that their findings may bring us closer to treatments that could prevent schizophrenia in utero.

The researchers recently reported their results in the journal Schizophrenia Research.

According to the National Institute of Mental Health, around 1.1 percent of adults in the United States have schizophrenia – a mental health disorder characterized by hallucinations, delusions, and abnormal thoughts.

While the exact causes of schizophrenia remain unclear, researchers have long known that the condition can run in families, suggesting a genetic origin. Furthermore, an increasing number of studies have uncovered genetic mutations associated with an increased risk of schizophrenia.

For their study, Stachowiak and colleagues sought to learn more about the genomic processes that occur in utero that might influence the risk of schizophrenia development.

To reach their findings, the researchers collected skin cells from four adults with schizophrenia and four adults without the disorder.

The skin cells were reprogrammed into induced pluripotent stem cells, and these differentiated into neuronal progenitor cells. This enabled the team to assess the processes that occur during early brain development in people with schizophrenia.

The researchers pinpointed a dysregulated nFGFR1 pathway that targets and mutates numerous genes associated with schizophrenia. The team explains that just one of these gene mutations can impact brain development.

According to the authors, these findings provide proof of concept that schizophrenia may be caused by a dysregulated genomic pathway that influences the brain before birth.

“In the last 10 years, genetic investigations into schizophrenia have been plagued by an ever-increasing number of mutations found in patients with the disease. We show for the first time that there is, indeed, a common, dysregulated gene pathway at work here.”

Michal K. Stachowiak, Ph.D.

Furthermore, the team says that these findings open the door to new schizophrenia treatments. For example, a drug could be administered to expectant mothers, whose offspring has a high risk of developing schizophrenia, that prevents processes related to the disease occurring in the developing fetus.

In future studies, the researchers plan to grow “mini brains” using the same processes used in the current study, with the aim of gaining a deeper understanding of how dysregulation of the nFGFR1 pathway influences early brain development, as well as to provide a model to test possible treatments.

Learn how B vitamins might improve symptoms of schizophrenia.

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Schizophrenia begins in the womb, study suggests – Medical News Today

Rare but fatal pediatric brain tumor may be stopped with new molecule – Medical News Today

Researchers may have found a molecule that inhibits the growth of a rare but fatal tumor that occurs in children, called diffuse intrinsic pontine glioma.

Diffuse intrinsic pontine glioma (DIPG) is a pediatric brain tumor that mainly affects children under 10 years of age.

Approximately 300 children – usually between 5 and 9 years old – are diagnosed with DIPG every year. DIPGs are located in the brain’s pons – a brain region that controls many of the body’s vital functions, including breathing and heart rate.

DIPGs are extremely aggressive and difficult to treat, so being diagnosed with the tumor typically results in death within a year.

New research, however, offers hope for treating DIPG. Scientists from Northwestern University in Evanston, IL, may have found a molecule that could stop the development of the tumor. The team was led by Ali Shilatifard, Robert Francis Furchgott professor of biochemistry and pediatrics, and chair of biochemistry and molecular genetics at Northwestern University’s Feinberg School of Medicine.

The new findings – published in the journal Nature Medicine – build on research that Shilatifard and colleagues have carried out in the past. Shilatifard and his team identified the pathway through which a genetic mutation causes cancer in a study published in the magazine Science, and a follow-up study – conducted in collaboration with Rintaro Hashizume and his team – used this knowledge to test the effects of pharmacological therapy on DIPG in mice.

The latter study inhibited the previously identified genetic pathway and successfully prolonged the life of mice by 20 days. The drug was administered through the mice’s abdomen, but in this latest research, the team set out to investigate whether injecting the cells into the mice’s brainstem would have more robust effects.

The scientists sampled tumor cell lines from an untreated patient and injected them into a mouse’s brainstem, where it grew into a tumor. Subsequently, the scientists treated the mouse with a BET bromodomain inhibitor and went on to clinically monitor the tumor.

The BET bromodomain inhibitor has proven efficacious in several cancer models before.

In this study, by using the inhibitor, bromodomain proteins could no longer bind to the histone H3K27M – a mutant protein found in 80 percent of DIPG tumors. BET inhibitors stopped the proliferation of tumor cells, and forced them to differentiate into other cells instead. This successfully stopped tumor growth.

The study’s first author, Andrea Piunti – a postdoctoral fellow in Shilatifard’s laboratory in biochemistry and molecular genetics at Northwestern University Feinberg School of Medicine – suggests that BET inhibitors should next be tested in a pediatric trial to treat DIPG, especially since the drugs are already being tested for pediatric leukemia.

“To the best of our knowledge, this is the most effective molecule so far in treating this tumor. Every other therapy that has been tried so far has failed.”

Ali Shilatifard, senior author

The senior author also notes that the currently available radiation therapy is ineffective in treating DIPG; it only adds a few months to the patients’ survival.

Shilatifard comments on the importance of Northwestern University for making this research possible:

“This work could not have been done anywhere in the world except Northwestern Medicine, because of all the scientists and physicians who have been recruited here during the past five years and how they work together to link basic scientific research to the clinic,” Shilatifard says. “This discovery is the perfect example of how we take basic science discoveries and translate them to cure diseases at Northwestern Medicine.”

Learn how childhood cancer treatment may hinder later-life sexual relationships.

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Rare but fatal pediatric brain tumor may be stopped with new molecule – Medical News Today

Scientists find a striking number of genetic changes can occur early … – Medical Xpress

February 24, 2017 Dr. Pengfei Liu holding human DNA treated with fluorescent dyes prepared for copy number variant analysis. Credit: Baylor College of Medicine

The genetic material of an organism encodes the instructions that guide its development. These codes are not written in stone; they can change or mutate any time during the life of the organism. Single changes in the code can occur spontaneously, as a mutation, causing developmental problems. Others, as an international team of researchers has discovered, are too numerous to be explained by random mutation processes present in the general population. When such multiple genetic changes occur before or early after conception, they may inform scientists about fundamental knowledge underlying many diseases. The study appears in Cell.

“As a part of the clinical evaluation of young patients with a variety of developmental issues, we performed clinical genomic studies and analyzed the genetic material of more than 60,000 individuals. Most of the samples were analyzed at Baylor Genetics laboratories,” said lead author Dr. Pengfei Liu, assistant professor of molecular and human genetics Baylor College of Medicine and assistant laboratory director of Baylor Genetics. “Of these samples, five had extreme numbers of genetic changes that could not be explained by random events alone.”

The researchers looked at a type of genetic change called copy number variants, which refers to the number of copies of genes in human DNA. Normally we each have two copies of each gene located on a pair of homologous chromosomes.

“Copy number variants in human DNA can be compared to repeated or missing paragraphs or pages of text in a book,” said senior author Dr. James R. Lupski, Cullen Professor of Molecular and Human Genetics at Baylor. “For instance, if one or two pages are duplicated in a book it could be explained by random mistakes. On the other hand, if 10 different pages are duplicated, you have to suspect that it did not happen by chance. We want to understand the basic mechanism underlying these multiple new copy number variant mutations in the human genome.”

A rare, early and transitory phenomenon that can affect human development

The researchers call this phenomenon multiple de novo copy number variants. As the name indicates, the copy number variants are many and new (de novo). The latter means that the patients carrying the genetic changes did not inherit them from their parents because neither the mother nor the father carries the changes.

In this rare phenomenon, the copy number variants are predominantly gains duplications and triplications rather than losses of genetic material, and are present in all the cells of the child. The last piece of evidence together with the fact that the parents do not carry the alterations suggest that the extra copies of genes may have occurred either in the sperm or the egg, the parent’s germ cells, and before or very early after fertilization.

“This burst of genetic changes happens only during the early stages of embryonic development and then it stops,” Liu said. “Interestingly, despite having a large number of mutations, the young patients present with relatively mild neurological problems.”

The researchers are analyzing more patient samples looking for additional cases of multiple copy number variants to continue their investigation of what may trigger this rare phenomenon.

“We hope that as more researchers around the world learn about this and confirm it, the number of cases will increase,” Liu said. “This will improve our understanding of the underlying mechanism and of why and how pathogenic copy number variants arise not only in developmental disorders but in cancers.”

A new era of clinical genomics-supported medicine and research

This discovery was made possible in great measure thanks to the breadth of genetic testing performed and genomic data available at Baylor Genetics laboratory.

“The diagnostics lab Baylor Genetics is one of the pioneers in this new era of clinical genomics-supported medical practice and disease gene discovery research,” Lupski said. “They are developing the clinical genomics necessary to foster and support the Precision Medicine Initiative of the National Institutes of Health, and generating the genomics data that further drives human genome research.”

Using state-of-the art technologies and highly-trained personnel, Baylor Genetics analyzes hundreds of samples daily for genetic evaluation of patients with conditions suspected to have underlying genetic factors potentially contributing to their disease. Having this wealth of information and insight into the genetic mechanisms of disease offers now the possibility of advancing medicine and basic research in ways that were not available before.

“There is so much that both clinicians and researchers can learn from the data generated in diagnostic labs,” Liu said. “Clinicians receive genomic information that can aid in diagnosis and treatment of their patients, and researchers gather data that can help them unveil the mechanisms underlying the biological perturbations resulting in the patients’ conditions.”

Explore further: Largest study of its kind finds rare genetic variations linked to schizophrenia

More information: An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell, DOI: dx.doi.org/10.1016/j.cell.2017.01.037

Journal reference: Cell

Provided by: Baylor College of Medicine

Many of the genetic variations that increase risk for schizophrenia are rare, making it difficult to study their role in the disease. To overcome this, the Psychiatric Genomics Consortium, an international team led by Jonathan …

Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children’s Hospital are combining descriptions of patients’ clinical features with their complex …

Scientists have linked a gene called PKD1L1 with disarrangement of human internal organs, known as laterality defects, and complex congenital heart disease. This discovery contributes to a better understanding of the genetic …

A team of scientists from a number of institutions around the world, including Baylor College of Medicine, has discovered that rare neurological syndromes for which there was no cause can be the result of variations in the …

A team of researchers at Baylor College of Medicine has developed a family-based association test that improves the detection in families of rare disease-causing variants of genes involved in complex conditions such as Alzheimer’s. …

An international team of scientists has identified variants of the gene EBF3 causing a developmental disorder with features in common with autism. Identification of these gene variants leads to a better understanding of these …

The genetic material of an organism encodes the instructions that guide its development. These codes are not written in stone; they can change or mutate any time during the life of the organism. Single changes in the code …

A research team from the United States and Canada has developed and successfully tested new computational software that determines whether a human DNA sample includes an epigenetic add-on linked to cancer and other adverse …

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A University of Toronto (U of T) study on fruit flies has uncovered a gene that could play a key role in obesity in humans.

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Gene editing techniques developed in the last five years could help in the battle against cancer and inherited diseases, a University of Exeter scientist says.

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Scientists find a striking number of genetic changes can occur early … – Medical Xpress

Discovery of genetic mutation may boost cancer therapies – Medical Xpress

February 24, 2017 by Geri Clark Killer T cells surround a cancer cell. Credit: NIH

A newly discovered type of genetic mutation that occurs frequently in cancer cells may provide clues about the disease’s origins and offer new therapeutic targets, according to research from Weill Cornell Medicine and the New York Genome Center.

Using next-generation sequencing technology, scientists have previously traced cancer’s roots to mutations that disrupt the sequence of proteins. As a result, the cell either creates hyperactive or dysfunctional versions of proteins, or fails to produce them at all, leading to cancer. Now, a study published Jan. 12 in Cell illuminates a possible new type of driver of the disease: small (one- to 50-letter) insertions or deletions of DNA sequence, also called “indels,” in regions of the genome that do not code for protein.

“Those noncoding regions are still important because they contain sequences that affect how genes are regulated, which is critical for normal cell development,” said lead author Dr. Marcin Imielinski, an assistant professor of pathology and laboratory medicine at Weill Cornell Medicine and a core member at the New York Genome Center. “We already know they are biologically important. The question is whether they can impact cancer development.”

In the study, Imielinski and his colleagues analyzed sequencing data from several publicly available databases of tumor samples, focusing on the 98 percent of the genome that does not code for protein. They initially looked at lung adenocarcinoma, the most common type of lung cancer, and found that the most frequent indel-mutated regions in their genomes landed in genes encoding surfactant proteins.

Though these genes are essential for healthy lung function, they had not previously been associated with lung cancer. However, they are highly and specifically expressed by the cell type that gives rise to lung adenocarcinoma.

The researchers then looked at the genomes of 12 other cancer types and found similar patterns in liver, stomach and thyroid tumors.

“In each cancer, noncoding indels clustered in genes that are critical to organ function, but had not been associated with the cancer,” said Imielinski, who is also an assistant professor of computational genomics in the HRH Prince Alwaleed Bin Talal Bin Abdulaziz Al-Saud Institute for Computational Biomedicine and a member of the Sandra and Edward Meyer Cancer Center at Weill Cornell Medicine.

Most strikingly, these noncoding indels are very common, occurring in 20 to 50 percent of the associated cancers.

“They occur as frequently as the most famous cancer-causing mutations,” said Imielinski, a paid consultant for the company 10X Genomics, which sells devices and technology to analyze genetic information. “Any gene or any sequence that mutated at this frequency has been shown to play a causal role in cancer. That would be an exciting outcome, if we can prove it.”

Even if these mutations are not shown to cause cancer, they can be used in the future to improve cancer diagnosis and treatment.

“These mutations can be biomarkers that help us to diagnose a cancer early, or they could be used to pinpoint a primary cancer when there are metastases and we can’t find the original cancer,” Imielinski said. “There are a lot of potential clinical implications from these findings.”

Explore further: Researchers pinpoint key regulatory role of noncoding genes in prostate cancer development

More information: Marcin Imielinski et al. Insertions and Deletions Target Lineage-Defining Genes in Human Cancers, Cell (2017). DOI: 10.1016/j.cell.2016.12.025

Journal reference: Cell

Provided by: Cornell University

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Discovery of genetic mutation may boost cancer therapies – Medical Xpress

Gene mutations in brain linked to OCD-like behavior – Medical News … – Medical News Today

Researchers provide further evidence of how gene mutations in a certain brain region might fuel behaviors associated with obsessive-compulsive disorder. The findings could pave the way for new treatments for the condition.

Obsessive-compulsive disorder is a condition characterized by uncontrollable thoughts, obsessions, and compulsions.

Obsessions include repetitive thoughts or mental images that trigger anxiety, while compulsions refer to the urge to repeat certain behaviors in response to obsessions. Common examples of compulsions include excessive hand-washing, arranging items in a particular way, and compulsive counting.

OCD is estimated to affect around 1 percent of adults in the United States. Of these adults, 50 percent have severe OCD, which can significantly interfere with daily life.

While the precise causes of OCD are unclear, previous studies have suggested that the disorder may be caused by specific gene mutations.

In the new study, researchers from Northwestern University in Chicago, IL, have pinpointed gene mutations in the corticostriatal region of the brain that led to OCD-like behaviors in mice.

Lead author Anis Contractor, associate professor of physiology at Feinberg School of Medicine, and colleagues recently reported their findings in the journal Cell Reports.

In humans and mice, the corticostriatal brain region is responsible for regulating repetitive behavior. “People with OCD are known to have abnormalities in function of corticostriatal circuits,” notes Contractor.

By analyzing this brain region in mice, Contractor and colleagues identified a number of synaptic receptors – called kainate receptors (KARs) – that play a key role in the development of the corticostriatal region.

The researchers then set out to investigate whether disrupting KAR genes in mice – thereby eliminating KARs – might induce repetitive behavior in the rodents. They found this was the case.

Mice whose KAR genes were erased displayed a number of OCD-like behaviors, such as over-grooming and repeatedly digging in their bedding.

The team says these findings provide further evidence that KAR genes play a role in OCD in humans, and a possible biological mechanism.

“A number of studies have found mutations in the kainate receptor genes that are associated with OCD or other neuropsychiatric and neurodevelopmental disorders in humans.

I believe our study, which found that a mouse with targeted mutations in these genes exhibited OCD-like behaviors, helps support the current genetic studies on neuropsychiatric and neurodevelopmental disorders in humans.”

Anis Contractor

The team suggests that in the future, KAR genes could be a target for the development of new drugs to treat OCD.

Learn how exposure therapy might help treat people with OCD.

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Gene mutations in brain linked to OCD-like behavior – Medical News … – Medical News Today

Study finding suggests new ways in which genetic mutations may … – News-Medical.net

February 25, 2017 at 5:31 AM

Many kids say they love their mom and dad equally, but there are times when even the best prefers one parent over the other. The same can be said for how the body’s cells treat our DNA instructions. It has long been thought that each copy – one inherited from mom and one from dad – is treated the same. A new study from scientists at the University of Utah School of Medicine shows that it is not uncommon for cells in the brain to preferentially activate one copy over the other. The finding breaks basic tenants of classic genetics and suggests new ways in which genetic mutations might cause brain disorders.

In at least one region of the newborn mouse brain, the new research shows, inequality seems to be the norm. About 85 percent of genes in the dorsal raphe nucleus, known for secreting the mood-controlling chemical serotonin, differentially activate their maternal and paternal gene copies. Ten days later in the juvenile brain, the landscape shifts, with both copies being activated equally for all but 10 percent of genes.

More than an oddity of the brain, the disparity also takes place at other sites in the body, including liver and muscle. It also occurs in humans.

“We usually think of traits in terms of a whole person, or animal. We’re finding that when we look at the level of cells, genetics is much more complicated than we thought,” says Christopher Gregg, Ph.D., assistant professor of neurobiology and anatomy and senior author of the study which publishes online in Neuron on Feb. 23. “This new picture may help us understand brain disorders,” he continues.

Among genes regulated in this unorthodox way are risk factors for mental illness. In humans, a gene called DEAF1, implicated in autism and intellectual disability, shows preferential expression of one gene copy in multiple regions of the brain. A more comprehensive survey in primates, which acts as a proxy for humans, indicates the same is true for many other genes including some linked to Huntington’s Disease, schizophrenia, attention deficit disorder, and bipoloar disorder.

What the genetic imbalance could mean for our health remains to be determined, but preliminary results suggest that it could shape vulnerabilities to disease, explains Gregg. Normally, having two copies of a gene acts as a protective buffer in case one is defective. Activating a gene copy that is mutated and silencing the healthy copy – even temporarily – could be disruptive enough to cause trouble in specific cells.

Supporting the idea, Gregg’s lab found that some brain cells in transgenic mice preferentially activate mutated gene copies over healthy ones. “It has generally been assumed that there is correlation between both copies of a gene,” says Elliott Ferris, a computer scientist who co-led the study with graduate student Wei-Chao Huang. Instead, they found something unexpected. “We developed novel methods for mining big data, and discovered something new,” Huang explains.

The investigators screened thousands of genes in their study, quantifying the relative levels of activation for each maternal and paternal gene copy and discovered that expression of the two is different for many genes. Surprised by what they saw, they developed statistical methods to rigorously test their validity and determined that they were not due to technical artifacts, nor genetic noise. Following up on their findings, they examined a subset of genes more closely, directly visualized imbalances between gene copies at the cellular level in the mouse and human brain.

Results from Gregg and colleagues build on previous research, expanding on scenarios in which genes play favorites. Imprinted genes and X-linked genes are specific gene categories that differentially activate their maternal and paternal gene copies. Studies in cultured cells had also determined that some genes vary which copy they express. The results from this study, however, suggests that silencing one gene copy may be a way in which cells fine tune their genetic program at specific times during the lifecycle of the animal, or in discrete places.

“Our new findings reveal a new landscape of diverse effects that shape the expression of maternal and paternal gene copies in the brain according to age, brain region, and tissue type,” explains Gregg. “The implication is a new view of genetics, one that starts up close.”

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