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Newswise Genomic medicine is rapidly developing, bringing with its advances promises of individualized genetic information to tailor and optimize prevention and treatment interventions. Genetic tests are already guiding treatments of the human immunodeficiency virus (HIV) and hepatitis c virus (HPC), and emerging research is showing genetic variants may be used to screen for an individuals susceptibility to addiction to a substance, and even inform treatments for addiction.

While there appear to be many benefits inherent in the development of this field and related research, there is a lack of data on the attitudes of marginalized populations towards genetic testing. A new study by researchers affiliated with New York University's Center for Drug Use and HIV Research (CDUHR) is the first to present the perceptions of genetic testing among drug users.

Published in the International Journal of Drug Policy, the study, Perceptions of genetic testing and genomic medicine among drug users, gauged drug users attitudes and understandings of genetics and genetic testing through six focus groups. The focus groups were segregated by race and ethnicity to increase participants comfort in talking about racial and ethnic issues. Over half of the participants (53%) reported having either HIV/AIDs or HCV, or a co-infection, and understood the potential value of genetic testing.

The researchers found that the participants had concerns regarding breaches in confidentiality and discrimination which might have reduced their inclination to undergo testing. Participants mistrust stemmed from concerns of lack of full disclosure of the tests purpose, or that once submitting to the test, their samples may be used for unspecified purposes. Participants were also uncomfortable with race/ethnicity-based genetic testing, and had concerns that a genetic test may adversely affect a drug user by aiding law enforcement.

Most participants were uncomfortable with engaging in genetic testing for either addiction-related care or for research to understand addiction, because most did not consider addiction to be a genetic disorder, said David Perlman, M.D., Professor of Medicine at Mount Sinai Beth Israels Icahn School of Medicine and director of Infectious Diseases and Biomedical Core at CDUHR. All participants were more comfortable understanding genetics as explaining physical traits rather than behavior. They viewed addiction as a behavior resulting from environment and experiences rather than genetic inheritance.

However, despite these concerns, many participants indicated they would feel more positive towards genetic testing were they to believe it could improve their medical care. Additionally, participants indicated they would be more trusting of the test were it to be administered by their primary physicians, rather than drug treatment programs. The results of this study may inform further research and how programs and providers might best approach drug users, and potentially other marginalized populations, for genetic testing when appropriate.

Study Authors: David C. Perlman, Camila Gelp-Acosta, Samuel R. Friedman, Ashly E. Jordan, Holly Hagan. Correspondence: David C. Perlman, Mount Sinai Beth Israel Health System, New York, NY, USA. (E-mail: dperlman@chpnet.org)

Acknowledgements: This work was supported by the National Institutes of Health grant P30 DA 011041. We gratefully acknowledge the assistance of the participating recruitment sites and all of the participants. Note: The findings and conclusions in the article are those of the authors and do not necessarily represent the views of the National Institute on Drug Abuse or the National Institute of Health.

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Study Explores Drug Users' Opinions on Genetic Testing

PUBLIC RELEASE DATE:

23-Sep-2014

Contact: Christopher James christopher.james@nyu.edu 212-998-6876 New York University @nyuniversity

Genomic medicine is rapidly developing, bringing with its advances promises of individualized genetic information to tailor and optimize prevention and treatment interventions. Genetic tests are already guiding treatments of the human immunodeficiency virus (HIV) and hepatitis c virus (HPC), and emerging research is showing genetic variants may be used to screen for an individual's susceptibility to addiction to a substance, and even inform treatments for addiction.

While there appear to be many benefits inherent in the development of this field and related research, there is a lack of data on the attitudes of marginalized populations towards genetic testing. A new study by researchers affiliated with New York University's Center for Drug Use and HIV Research (CDUHR) is the first to present the perceptions of genetic testing among drug users.

Published in the International Journal of Drug Policy, the study, "Perceptions of genetic testing and genomic medicine among drug users," gauged drug users' attitudes and understandings of genetics and genetic testing through six focus groups. The focus groups were segregated by race and ethnicity to increase participants' comfort in talking about racial and ethnic issues. Over half of the participants (53%) reported having either HIV/AIDs or HCV, or a co-infection, and understood the potential value of genetic testing.

The researchers found that the participants had concerns regarding breaches in confidentiality and discrimination which might have reduced their inclination to undergo testing. Participants' mistrust stemmed from concerns of lack of full disclosure of the test's purpose, or that once submitting to the test, their samples may be used for unspecified purposes. Participants were also uncomfortable with race/ethnicity-based genetic testing, and had concerns that a genetic test may adversely affect a drug user by aiding law enforcement.

"Most participants were uncomfortable with engaging in genetic testing for either addiction-related care or for research to understand addiction, because most did not consider addiction to be a genetic disorder," said David Perlman, M.D., Professor of Medicine at Mount Sinai Beth Israel's Icahn School of Medicine and director of Infectious Diseases and Biomedical Core at CDUHR. "All participants were more comfortable understanding genetics as explaining physical traits rather than behavior. They viewed addiction as a behavior resulting from environment and experiences rather than genetic inheritance."

However, despite these concerns, many participants indicated they would feel more positive towards genetic testing were they to believe it could improve their medical care. Additionally, participants indicated they would be more trusting of the test were it to be administered by their primary physicians, rather than drug treatment programs. The results of this study may inform further research and how programs and providers might best approach drug users, and potentially other marginalized populations, for genetic testing when appropriate.

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NYU-Mount Sinai Beth Israel study explores drug users' opinions on genetic testing

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Newswise NEW YORK (September 23, 2014) David Goldstein, PhD, will join Columbia University as professor of genetics and development in the College of Physicians and Surgeons and director of a new Institute for Genomic Medicine in partnership with NewYork-Presbyterian, effective January 1, 2015. Dr. Goldstein will be responsible for building a program that comprehensively integrates genetics and genomics into research, patient care, and education at Columbia University Medical Center (CUMC) and NewYork-Presbyterian and that develops programs to prepare students for careers in the expanding field of genomic and personalized medicine.

Dr. Goldsteins role includes serving as an adviser to Columbia University President Lee C. Bollinger and Executive Vice President for Health and Biomedical Sciences Lee Goldman, MD, on the genetic and genomic components of Columbias university-wide initiative in precision or personalized medicine, which was announced in February.

Having a pioneering researcher like David Goldstein join us marks a crucial next step in our initiative to be at the forefront of genomics, data science, and the core science and engineering disciplines essential to this emerging field of truly humanistic medicine, said President Bollinger. The potential for progress in this broad subject encompasses not only new cures for disease, but also virtually every part of the University, including areas that explore fundamental issues of human self-understanding, as well as the legal, policy, and economic implications of revolutionary changes in knowledge and practice.

Dr. Goldsteins research has focused on identifying the relationship between human genetic variations and diseases such as epilepsy, hepatitis C, and schizophrenia, as well as the response of these diseases to pharmacologic treatments. In addition to his leadership of the Institute for Genomic Medicine at CUMC, he will have a faculty appointment at the New York Genome Center, as well as one in neurology at Columbias College of Physicians and Surgeons.

David Goldstein has shown himself to be both an innovative scientist and a visionary leader in genetic, genomic, and personalized medicine, said Dr. Goldman, who is also the Harold and Margaret Hatch Professor of the University and dean of the Faculties of Health Sciences and Medicine at CUMC. Working with our partners across Columbia and at New York-Presbyterian, Dr. Goldstein will help us establish a fully integrated genetics and genomics research environment to maximize the scientific possibilities and apply them to the frontiers of patient care and public health.

Personalized medicine and targeted therapies represent the future of patient-centered health care, said Steven J. Corwin, MD, CEO, NewYork-Presbyterian. Dr. Goldsteins expertise in genetics will help us not only to tailor individualized treatments for patients, but also to identify diseases before they develop. His work will have a transformative impact on patient care at NewYork-Presbyterian.

Dr. Goldstein comes to Columbia from Duke University, where he has been director of the Center for Human Genome Variation and the Richard and Pat Johnson Distinguished University Professor, with appointments in the departments of molecular genetics & microbiology and biology. He joined Duke in 2005 after six years at University College London, which named him Honorary Professor in 2007. He received his PhD in biological sciences from Stanford University in 1994.

The vision of Columbia University and NYP to create a truly integrated environment for research, clinical application, and student instruction is exactly the right vision, said Dr. Goldstein. Human genomics is creating breathtaking new opportunities to better understand the biology of disease and to provide more effective and more accurately targeted therapies. Capitalizing on these opportunities and ensuring that clinical applications adhere to the highest possible scientific standards requires close collaborations among researchers, the clinical community, and patients and their families. I am thrilled to be joining Columbia University at this pivotal time in my field, and I am honored to participate in Columbias university-wide initiative in precision medicine.

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Dr. David Goldstein to Direct Columbia's Institute for Genomic Medicine as Key Part of University-Wide Initiative

PUBLIC RELEASE DATE:

24-Sep-2014

Contact: Krista Conger kristac@stanford.edu 650-725-5371 Stanford University Medical Center @sumedicine

Over 500 million people worldwide carry a genetic mutation that disables a common metabolic protein called ALDH2. The mutation, which predominantly occurs in people of East Asian descent, leads to an increased risk of heart disease and poorer outcomes after a heart attack. It also causes facial flushing when carriers drink alcohol.

Now researchers at the Stanford University School of Medicine have learned for the first time specifically how the mutation affects heart health. They did so by comparing heart muscle cells made from induced pluripotent stem cells, or iPS cells, from people with the mutation versus those without the mutation. IPS cells are created in the laboratory from specialized adult cells like skin. They are "pluripotent," meaning they can be coaxed to become any cell in the body.

"This study is one of the first to show that we can use iPS cells to study ethnic-specific differences among populations," said Joseph Wu, MD, PhD, director of the Stanford Cardiovascular Institute and professor of cardiovascular medicine and of radiology.

"These findings may help us discover new therapeutic paths for heart disease for carriers of this mutation," said Wu. "In the future, I believe we will have banks of iPS cells generated from many different ethnic groups. Drug companies or clinicians can then compare how members of different ethnic groups respond to drugs or diseases, or study how one group might differ from another, or tailor specific drugs to fit particular groups."

The findings are described in a paper that will be published Sept. 24 in Science Translational Medicine. Wu and Daria Mochly-Rosen, PhD, professor of chemical and systems biology, are co-senior authors of the paper, and postdoctoral scholar Antje Ebert, PhD, is the lead author.

ALDH2 and cell death

The study showed that the ALDH2 mutation affects heart health by controlling the survival decisions cells make during times of stress. It is the first time ALDH2, which is involved in many common metabolic processes in cells of all types, has been shown to play a role in cell survival. In particular, ALDH2 activity, or the lack of it, influences whether a cell enters a state of programmed cell death called apoptosis in response to stressful growing conditions.

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Stanford scientists use stem cells to learn how common mutation in Asians affects heart health

Patients who years ago breathed a sigh of relief because their genetic tests showed they were not at increased risk of developing cancer are not necessarily home free, said Suzanne Mahon, DNSc, genetic counselor for Saint Louis University Cancer Center.

"There is this group of people who think they don't need to worry about getting cancer and believe they don't have a high family risk of getting cancer, but unfortunately do," said Mahon, a professor in internal medicine at Saint Louis University.

Mahon says her requests for genetic testing for breast cancer have more than tripled since 2013, when actress Angelina Jolie announced she had a double mastectomy because she was at genetic risk of developing breast cancer.

Older genetic screenings were for the BRCA 1 and 2 genes, which are linked to the development of breast, ovarian, prostate, melanoma, pancreatic and other cancers.

However a new generation of genetic tests can detect as many as 25 other, less common genes that show a familial predisposition to cancer.

"It's important for people to understand what genetic test they were given and how complete they were," Mahon said.

"Many people have tested negative for BRCA 1 or 2 and mistakenly think they do not have an increased hereditary risk for developing cancer. It is possible that newer testing, through next generation platforms, could identify a less common susceptibility gene and clarify their risk."

For those who had early, less complete genetic tests, catch up panels are available to screen for other genes that raise their risk of developing cancer. "Most of these genes are associated with multiple cancers," Mahon said.

Those who could be at genetic risk of developing cancer include people who have:

Several close relatives on the same side of the family who have cancer

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Newer tests clarify hereditary risk of cancer

$7.8 million given to Carver College of Medicine

BY BEN MARKS | SEPTEMBER 16, 2014 5:00 AM

The Carver College of Medicine will hopefully use $7.8 million donation to look for a new professorship, in addition to furthering genetic research.

After receiving $7.8 million, the University of Iowa Carver College of Medicine will advance genomic medicine as well as hopefully establishing several new positions in the college.

The money was from the estate of Franklin D. Trueblood, who earned a law degree in at the UI in 1925 and, along with friend and fellow alum Elsie Foerstner, was a staunch supporter of the university over the years.

When he died in 1989, his will named Foerstner as a lifetime income beneficiary of his trust. After Foerstners death in April, the university was named as remainder beneficiary.

A decision on exactly where the money is to be spent in the Genetics Department has not yet been made. However, medical-school Dean Debra Schwinn said the money could be used for a variety of purposes.

We want to make sure were putting it to the absolute best use, and thats why were not making a quick decision, she said. Theres just so much that we can do, this is a huge jump-start, and we have so many projects where we can use this wisely.

UI spokesman Tom Moore said it is not one lab that will benefit from the donation but a field of study, as the $7.8 million was given to the university with the intention of promoting the field of genomic medicine at the medical school.

Genomic medicine is about tailoring treatment to a specific individuals genome, Schwinn said.

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$7.8 million given to Carver College of Medicine

PUBLIC RELEASE DATE:

17-Sep-2014

Contact: Vanessa Wasta wasta@jhmi.edu 410-614-2916 Johns Hopkins Medicine @HopkinsMedicine

In an analysis of genetic information among more than 87,000 men, a global team of scientists says it has found 23 new genetic variants common differences in the genetic code -- that increase a man's risk for prostate cancer. The so-called "meta-analysis," believed to be the largest of its kind, has revealed once hidden mutations among men in a broad array of ethnic groups comprising men of European, African, Japanese and Latino ancestry.

The meta-analysis combined information from smaller studies, according to William B. Isaacs, Ph.D., a genetic scientist at the Brady Urological Institute at the Johns Hopkins University School of Medicine. "There is a power in numbers that helped us find new variants that were only hinted at in smaller study populations, especially among minority men, and as we found the same variants across several populations, the evidence became stronger that they were definitively linked to prostate cancer," Isaacs said.

To help build the number of samples for the current study, described online Sept. 14 in Nature Genetics, Isaacs and Alan Partin, M.D., Ph.D., Brady Urological Institute director, contributed blood and tissue samples and data from 800 African-American men (400 with prostate cancer and 400 cancer-free) treated at Johns Hopkins to the study. All told, the samples included information on 43,303 prostate cancer patients and 43,737 men without prostate cancer.

Scientists at the Institute of Cancer Research and Royal Marsden National Health Services Foundation Trust in London, UK, and the University of Southern California led the analysis, which scanned more than 10 million areas of the genome where one genetic building block of DNA was switched for another, referred to as genetic variants, or more specifically, single-nucleotide polymorphisms (SNPs).

The team then compared the scanned genome regions of prostate cancer patients with prostate cancer-free men to find the 23 new SNPs they now link to prostate cancer. Together with 76 previously discovered SNPs, the variants account for one-third of the inherited risk for prostate cancers in men of European descent. Because the variants are inherited commonly among populations, they can appear in men with little or no family history of prostate cancer.

"Inheriting any single one of these genetic variants has only a small effect of prostate cancer risk," says Partin. "However, a subset of men will inherit many of these variants, putting them at substantially increase risk for the disease, from three to six times the population average. Men with these risk levels may benefit from disease screening at earlier ages."

Isaacs says that men with a family history of prostate cancer are already encouraged to be screened at an earlier age, "but family history may be difficult to pin down."

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Large study reveals new genetic variants that raise risk for prostate cancer

September 16, 2014

John Hopton for redOrbit.com Your Universe Online

A study of more than 87,000 individuals of European, African, Japanese and Latino ancestry has revealed 23 new genetic susceptibility locations indicating risk of prostate cancer, contributing to greater knowledge and hope for future prevention of the disease.

The study, co-led by Keck School of Medicine, University of Southern California (USC), and scientists and researchers in the United Kingdom, is the largest of its kind and the first to combine multiple studies across different ethnic populations. It adds to previous research on prostate cancer which is, according to the American Cancer Society, the second most common cancer among American men behind skin cancer. It is estimated that in 2014 almost 30,000 men will die of prostate cancer and more than 233,000 new cases will be diagnosed.

The goal of this research is to identify regions of the genome that contribute susceptibility to prostate cancer that could be used for understanding a mans future risk of developing this disease, said principal investigator Christopher Haiman, Sc.D., professor of preventive medicine at the Keck School of Medicine.

The 23 new common genetic variants are added to those previously identified to bring the total to 100, which in combination can increase a mans risk of prostate cancer six-fold. Such a risk applies to one percent of men who carry a certain combination of the genes, while ten percent of men face a three-fold risk through carrying a lower combination. The research may lead to targeted genetic testing of men to identify those at higher risk in order to monitor them more closely, and further research will establish the feasibility of routine genetic screening in the general population.

Ros Eeles, Professor of Oncogenetics at The Institute of Cancer Research, London, explained that, Our study tells us more about the effect of the genetic hand that men are dealt on their risk of prostate cancer, adding that, We will shortly be conducting a clinical trial to find out whether testing for genetic variants in men can successfully pick up the disease early, and help direct targeted interventions for patients.

The people involved in the combined genetic population studies were made up of 43,303 men with prostate cancer and 43,737 controls from European, African, Japanese or Latino heritage. Their genetic profiles were mapped in order to identify variants that were more common among the prostate cancer patients.

From this combined population, 16 new genetic markers linked to prostate cancer risk in European men were identified, with one of them being associated with increased risk of early-onset disease. Seven markers were identified in men of mixed heritage. A new clinical trial called BARCODE aims to genetically screen 5,000 men for prostate cancer and will investigate if these genetic markers can improve on other tests for the disease.

Professor Malcolm Mason, prostate cancer expert for Cancer Research UK, said that, This important research continues a quest to unravel the complex picture of the genetic factors that increase a mans risk of prostate cancer. Building on previous research this study gives a more complete list of these factors, bringing us closer to knowing who may need screening for prostate cancer and which men may benefit from early treatment. More work needs to be done, but identifying these genetic factors will allow us to better understand the disease and maybe even develop new treatments.

Continued here:

Genetic Study Contributes To Greater Understanding Of Prostate Cancer

Chuck Bednar for redOrbit.com Your Universe Online

Schizophrenia is not a single disease, but a group of eight genetically distinct disorders each with its own unique set of symptoms, according to new research published online Monday in The American Journal of Psychiatry.

Dr. C. Robert Cloninger, one of the senior investigators of the study as well as a professor of psychiatry and genetics at the Washington University School of Medicine in St. Louis, and his colleagues believe their findings could be the first step towards improving how the condition is diagnosed and treated.

According to the researchers, approximately 80 percent of schizophrenia risk is inherited, but scientists have struggled to identify the exact genes responsible for the debilitating psychiatric illness. Now, after conducting detailed analysis of genetic influences on over 4,000 people with schizophrenia, the study authors have identified distinct gene clusters which they said contribute to eight different classes of the disorder.

Genes dont operate by themselves. They function in concert much like an orchestra, and to understand how theyre working, you have to know not just who the members of the orchestra are but how they interact, Dr. Cloninger, whose team matched precise DNA variations in people with and without schizophrenia to symptoms in individual patients, said in a statement.

The investigators looked at nearly 700,000 sites within the genome where a single DNA unit is changed, also known as a single nucleotide polymorphism (SNP), in 4,200 people with schizophrenia and 3,800 healthy controls. The goal was to discover how individual genetic variations interacted with one another in order to produce the illness.

For example, in some patients suffering from delusions or hallucinations, they matched distinct genetic features to the symptoms and demonstrated with 95 percent certainty the genetic variations that would have caused that type of schizophrenia. In a second group, they discovered a link between disorganized speech and behavior with a unique set of DNA variations that carried a 100 percent risk of schizophrenia.

What weve done here, after a decade of frustration in the field of psychiatric genetics, is identify the way genes interact with each other, how the orchestra is either harmonious and leads to health, or disorganized in ways that lead to distinct classes of schizophrenia, explained Dr. Cloninger.

While individual genes only have weak and somewhat inconsistent associations with the disease, groups of gene clusters that interact with each other can result in a 70 percent to 100 percent risk of developing schizophrenia. The study authors said that this makes it nearly impossible for people with those specific variations to avoid the condition. In all, they identified 42 clusters of genetic variations which dramatically increase schizophrenia risk.

In the past, scientists had been looking for associations between individual genes and schizophrenia, explained Dr. Dragan Svrakic, a study co-author and Washington University psychiatry professor. When one study would identify an association, no one else could replicate it. What was missing was the idea that these genes dont act independently. They work in concert to disrupt the brains structure and function, and that results in the illness.

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Genetic Research Reveals Eight Distinct Types Of Schizophrenia

PUBLIC RELEASE DATE:

14-Sep-2014

Contact: Leslie Ridgeway lridgewa@usc.edu University of Southern California - Health Sciences

An international study co-led by Keck School of Medicine of the University of Southern California (USC) scientists and researchers in the United Kingdom has revealed 23 new genetic susceptibility locations indicating risk for prostate cancer.

The data study, analyzing more than 87,000 individuals of European, African, Japanese and Latino ancestry, is the largest of its kind and is the first that combines multiple studies across different ethnic populations.

"The goal of this research is to identify regions of the genome that contribute susceptibility to prostate cancer that could be used for understanding a man's future risk of developing this disease," said principal investigator Christopher Haiman, Sc.D., professor of preventive medicine, Keck School of Medicine of USC. "This research also emphasizes the importance of common genetic variation in the etiology of prostate cancer, and the importance of large-scale international genetics consortia."

According to the American Cancer Society, prostate cancer is the second most common cancer among American men, behind skin cancer. It is estimated that nearly 30,000 men will die of prostate cancer and more than 233,000 new cases will be diagnosed in 2014.

Past genome-wide association studies identified 77 variants associated with prostate cancer risk. The additional 23 variants found in the new study "give us another piece in the puzzle," Haiman said, and new targets for researchers looking into the causes of prostate cancer.

The combined studies that are part of this research have been conducted around the world over the past seven years. The research is chiefly funded by the NCI GAME-ON Consortium, formed to encourage interdisciplinary international collaborations.

The study, "A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer," was published Sept. 14, 2014 in Nature Genetics.

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International study identifies new genetic variants indicating risk for prostate cancer

Greenbelt, MD (PRWEB) September 15, 2014

With a simple swab of the cheek, the physicians at Center for Vascular Medicine can gain valuable insight to help personalize the treatment for patients with vascular disorders, including peripheral artery disease (PAD).

The ideal approach to medicine is preventive care. But, it can be difficult for a doctor to predict how a patient will respond to specific drugs. A simple cheek swab test can be used to identify a patients genetic makeup, allowing the physician to tailor medical therapy and optimize outcomes.

By tailoring the dose and regimen of pharmaceutical treatment to the patients genetics, we are able to deliver more effective therapy and avoid unwanted side effects, says Sanjiv Lakhanpal MD, founder of the Center for Vascular Medicine.

The mapping of the human genome in 2003 gave researchers insight into Cytochrome P450 (CYP450), a group of enzymes that are involved in drug metabolism. The test creates a road map for the individual to enable the physician to predict the effectiveness of certain drugs. For example, blood thinners which are commonly prescribed to patients with vascular conditions.

Many adults in the United States routinely take five or more prescription medications. This is particularly common in patients over age 50. Certain combinations of drugs can reduce effectiveness and cause unwanted side effects. The results of genetic testing can be used for medication reconciliation, which addresses drugs and/or supplements interfere with one another when taken in combination.

Genetic testing may also provide insight into a patients risk for certain vascular conditions.

Various studies have shown that people with gene variants carry double or even triple the risk of blood clots compared to people with normal metabolism, explains Dr. Lakhanpal. Genetic testing can help us identify individuals at risk and offer preventive treatments that can help to avoid problems in the future.

Center for Vascular Medicine is one of the first practices in Maryland to offer this type of testing at our offices located in Annapolis, Glen Burnie, Greenbelt, Prince Frederick and Silver Spring.

For more information, visit CVMUS.com or call (888) 702-2711 to schedule a consultation.

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Center for Vascular Medicine Offers Genetic Testing For Personalized Vascular Care

When Auburn alumni Michael and Sara Heatherly discovered their son Porter had a rare genetic disorder, they didn't know at first that their alma mater was leading the fight against it.

Researchers at Auburn's College of Veterinary Medicine have been researching how to treat the same genetic disorder in cats...and are now ready to move on to the human testing phase.

"When you get a diagnosis that your child might not live to be two, you kind of lose hope and that's the way we were for a few weeks, even months afterward,," Sara said. "Then when we find out something like this is happening down the road, it turned our life around. It gave us hope and made us realize that's Porter's purpose."

Porter has gangliosidosis, otherwise known as GM1, a genetic disorder that attacks the brain and spinal cord, similar to Alzheimer's. Only one in every 360,000 children will be affected and there is no cure or treatment. Life expectancy for those born with the disorder is just two years.

"The really cruel thing about this disease is that they appear to be normal for the first six to eight months of their life, and then they begin to miss certain milestones like sitting up or rolling over or maybe they acquire those acquire those milestones and then they lose them," said Dr. Doug Martin of the College of Veterinary Medicine.

Martin has been researching GM1 for nearly two decades. Porter's story has motivated him and his team in their research.

"Our group has always been really hard-working and motivated. But when we met Porter it took everything to a whole different level. The urgency we feel with the research now is just orders of magnitude above what it had been in the past because we have a great little kid right herein front of us who needs the research we're doing or needs the results of the research," Martin said.

This weekend, Porter celebrated his 2nd birthday surrounded by loved ones and those working to find a treatment for future children born with GM1. The Heatherly's find hope in the fact that Porter's life will make an impact on the lives of future generations.

"Just because he can't do all the things that you dream about when you have a little boy of everything he could do as far as playing sports or going to hunt or fish or do those kind of things, his life still can have a huge impact on people," Michael Heatherly said. "I think that's extremely important for us because of all the things he can't do, there's so many things he can do, just in a totally different way."

ON THE WEB: To donate to GM1 research, visit the Auburn University College of Veterinary Medicine.

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East Alabama family fights rare genetic disorder

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Newswise PHILADELPHIA Using a zebrafish model of a human genetic disease called neurofibromatosis (NF1), a team from the Perelman School of Medicine at the University of Pennsylvania has found that the learning and memory components of the disorder are distinct features that will likely need different treatment approaches. They published their results this month in Cell Reports.

NF1 is one of the most common inherited neurological disorders, affecting about one in 3,000 people. It is characterized by tumors, attention deficits, and learning problems. Most people with NF1 have symptoms before the age of 10. Therapies target Ras, a protein family that guides cell proliferation. The NF1 gene encodes neurofibromin, a very large protein with a small domain involved in Ras regulation.

Unexpectedly, the Penn team showed that some of the behavioral defects in mutant fish are not related to abnormal Ras, but can be corrected by drugs that affect another signaling pathway controlled by the small molecule cAMP. They used the zebrafish model of NF1 to show that memory defects such as the recall of a learned task -- can be corrected by drugs that target Ras, while learning deficits are corrected by modulation of the cAMP pathway. Overall, the teams results have implications for potential therapies in people with NF1.

We now know that learning and memory defects in NF1 are distinct and potentially amenable to drug therapy, says co-senior author Jon Epstein, MD, chair of the department of Cell and Developmental Biology. Our data convincingly show that memory defects in mutant fish are due to abnormal Ras activity, but learning defects are completely unaffected by modulation of these pathways. Rather these deficits are corrected with medicines that modulate cAMP.

Over the last 20 years, zebrafish have become great models for studying development and disease. Like humans, zebrafish are vertebrates, and most of the genes required for normal embryonic development in zebrafish are also present in humans. When incorrectly regulated, these same genes often cause tumor formation and metastatic cancers.

Zebrafish have also become an ideal model for studying vertebrate neuroscience and behavior. In fact, co-senior author Michael Granato, PhD, professor of Cell and Developmental Biology, has developed the first high-throughput behavioral assays that measure learning and memory in fish. For example, Granato explains, normal fish startle with changes in noise and light level by bending and swimming away from the annoying stimuli and do eventually habituate, that is get used to the alternations in their environment. But, NF1 fish mutants fail to habituate. However, after adding cAMP to their water, they do learn, and then behave like the non-mutant fish.

This clearly indicates that learning deficits in the NF1 mutant fish are corrected by adding various substances that boost cAMP signaling. Our data also indicate that learning and memory defects are reversible with acute pharmacologic treatments and are therefore not hard-wired, as might be expected for a defect in the development of nerves, says Epstein. This offers great hope for therapeutic intervention for NF1 patients.

Co-first authors Marc A. Wolman and Eric D. de Groh, Sean M. McBride, and Thomas A. Jongens, all from Penn, were also on the paper.

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Zebrafish Model of a Learning and Memory Disorder Shows Better Way to Target Treatment

Primary care providers report many challenges to integrating genetics services into routine primary care, according to research published today in Genetics in Medicine.

Medical genetics medicine has traditionally been used to identify and diagnose rare diseases, but in the last decade it has been increasingly helpful in determining patients at risk for genetically-based conditions who can benefit from preventive health care, says the study's senior author, Beth Tarini, M.D., M.S., F.A.A.P., assistant professor of pediatrics at the University of Michigan Medical School and C.S. Mott Children's Hospital.

"Genetics is not just about rare diseases and specialists. PCPs rely on genetics frequently during preventive care visits -- especially when taking family histories and assessing a patient's risk of more common, but chronic, diseases. So the fact that PCPs report many barriers to embracing and performing these tasks is concerning, " says Tarini, who is also an investigator at U-M's Child Health Evaluation & Research (CHEAR) Unit and co-medical director of the Genetics in Primary Care Institute (GPCI), a project of the American Academy of Pediatrics

Tarini and her co-investigators conducted a systematic literature review to assess reported barriers from primary care physicians across multiple practice settings, including pediatrics, family medicine, and obstetrics-gynecology.

Primary care physicians most frequently reported that their knowledge and competence related to genetic medicine is insufficient, according to the study.

Other barriers mentioned most often included a lack of knowledge about genetic risk assessment, concern for patient anxiety, a lack of access to genetics, and a lack of time.

"Shedding light on remaining challenges and misperceptions that physicians continue to experience related to genetic medicine in the primary care setting can provide opportunities for intervention in order to improve the delivery of care," says the study's lead author Natalie A. Mikat-Stevens, M.P.H., project manager for the Genetics in Primary Care Institute at the American Academy of Pediatrics.

Tarini says it is not surprising that primary care physicians cite lack of knowledge most frequently.

"Advances in genetic technology and the discovery of new genetic mechanisms seem to occur almost daily. A PCP's genetics training may be decades old and rusty from lack of use," says Tarini, who is also a member of U-M's Institute for Healthcare Policy and Innovation. "Genetics has historically been viewed as a discipline focused on rare conditions, but recent genomic advances have highlighted that genetics has a role in common conditions encountered in primary care medicine."

Tarini and her co-authors urge that efforts are focused on helping primary care physicians address and overcome these barriers.

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Primary care doctors reluctant to provide genetics assessment in routine care

PUBLIC RELEASE DATE:

11-Sep-2014

Contact: Robin Dutcher 603-653-9056 The Geisel School of Medicine at Dartmouth

Dartmouth researchers have found that the genetic mutation BRAFV600E, frequently found in metastatic melanoma, not only secretes a protein that promotes the growth of melanoma tumor cells, but can also modify the network of normal cells around the tumor to support the disease's progression. Targeting this mutation with Vemurafenib reduces this interaction, and suggests possible new treatment options for melanoma therapy. They report on their findings in "BRAFV600E melanoma cells secrete factors that activate stromal fibroblasts and enhance tumourigenicity," which was recently published in British Journal of Cancer.

Authors of the study are Dr. Chery A. Whipple, research associate at the Geisel School of Medicine at Dartmouth, and Dr. Constance Brinckerhoff, professor of Medicine and of Biochemistry at Geisel and member of Dartmouth-Hitchcock Norris Cotton Cancer Center.

"This work supports the importance of the tumor cells "talking" with the normal cells present in the tumor microenvironment," said Whipple, first author on the study. "Targeting the tumor cells with specific therapy to reduce the secreted proteins can reduce the aggressive behavior of the tumor and inhibit disease progression."

Melanoma, the most lethal form of skin cancer, is responsible for more than 80 percent of all skin cancer deaths and spreads readily to the lymph nodes and other organs. While early stage melanoma is curable, the later vertical growth phase (VGP) is frequently metastatic, with median survival times of less than nine months. Melanoma that progresses to this stage is often associated with the gene mutation BRAFV600E, which is found in about 50 percent of melanomas. This BRAF mutation activates certain enzyme pathways that are involved in many cell processes.

Using genetically engineered melanoma cell lines and xenograft mouse models, the Dartmouth researchers found that BRAFV600E melanoma cells expressed higher levels of several cytokines (proteins that act on the immune system and can be used to help the body fight cancer) and Matrix Metalloproteinase-1 (MMP-1; MMPs are associated with various processes including tissue repair and metastasis). Their study also suggests a mechanistic link between BRAFV600E and MMP-1 that modifies the network of normal cells surrounding melanoma tumors, making these "normal cells" more supportive of tumor growth and development. Vemurafenib, a therapeutic drug that specifically targets the BRAFV600E mutation, is able to reduce the expression of several proteins essential for activating this interaction.

"Given that our data show that Vemurafenib is able to reduce the expression of several proteins that are essential for activating the tumor microenvironment (TME), a next step would be to ask whether Vemurafenib normalizes the TME, or keeps it from becoming activated," said Whipple. "If so, does it create a window of time where we could target the TME, normalize it, and enhance the patient's therapeutic response?"

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Dartmouth research links genetic mutation and melanoma progression

PUBLIC RELEASE DATE:

10-Sep-2014

Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine @bcmhouston

HOUSTON (Sep. 10. 2014) With the completion of the sequencing and analysis of the gibbon genome, scientists now know more about why this small ape has a rapid rate of chromosomal rearrangements, providing information that broadens understanding of chromosomal biology.

Chromosomes, essentially the packaging that encases the genetic information stored in the DNA sequence, are fundamental to cellular function and the transmission of genetic information from one generation to the next. Chromosome structure and function is also intimately related to human genetic diseases, especially cancer.

The sequence and analysis of the gibbon genome (all the chromosomes) was published today in the journal Nature and led by scientists at Oregon Health & Science University, the Baylor College of Medicine Human Genome Sequencing Center and the Washington University School of Medicine's Genome Institute.

"Everything we learn about the genome sequence of this particular primate and others analyzed in the recent past helps us to understand human biology in a more detailed and complete way," said Dr. Jeffrey Rogers, associate professor in the Human Genome Sequencing Center at Baylor and a lead author on the report. "The gibbon sequence represents a branch of the primate evolutionary tree that spans the gap between the Old World Monkeys and great apes and has not yet been studied in this way. The new genome sequence provides important insight into their unique and rapid chromosomal rearrangements."

For years, experts have known that gibbon chromosomes evolve quickly and have many breaks and rearrangements, but up until now there has been no explanation why, Rogers said. The genome sequence helps to explain the genetic mechanism unique to gibbons that results in these large scale rearrangements.

The sequencing was led by Dr. Kim Worley, professor in the Human Genome Sequencing Center, and Rogers, both of Baylor and Drs. Wesley Warren and Richard Wilson of Washington University.

The analysis was led by Dr. Lucia Carbone, an assistant professor of behavioral neuroscience in the OHSU School of Medicine and an assistant scientist in the Division of Neuroscience at OHSU's Oregon National Primate Research Center. Carbone is an expert in the study of gibbons and the lead and corresponding author on the report.

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Gibbon genome sequence deepens understanding of primates rapid chromosomal rearrangements

One of this year's five winners of the so-called American Nobels in medicine says every woman over the age of 30 needs to be tested for cancer-causing genetic mutations.

The Albert and Mary Lasker Foundations Award for Special Achievement will go to Dr. Mary-Claire King, who correlated mutations in the BRCA1 and BRCA2 genes with breast and ovarian cancer.

Current guidelines discourage testing, but King says it would cost little and identify 250,000 to 400,000 American women with the cancer-causing genetic mutations.

The Lasker awards each include a $250,000 honorarium and are to be presented in New York September 19.

The Journal of the American Medical Association summarized Kings proposal in an article published to coincide with the Lasker award announcements.

The Lasker Award for Clinical Medical Research will be shared by Drs. Mahlon DeLong of Emory University in Atlanta and Alim Louis Benabid of Joseph Fourier University in Grenoble, France. They developed a surgical treatment for Parkinson's disease.

In work that began in the late 1960s, DeLong traced Parkinson symptoms to over-activity in a specific part of the brain. Benabid, independently following up on that research, showed in 1995 that stimulating this area with a surgically implanted electrode could ease some Parkinson symptoms.

The Lasker Award for Basic Medical Research will be shared by Peter Walter of the University of California, San Francisco, and Kazutoshi Mori of Japan's Kyoto University.

They made key discoveries about how cells detect and manage their proteins that have not been folded correctly, which can make them harmful. The research has shed light on certain inherited diseases, including cystic fibrosis, the Foundation said.

Since 1942, when the Lasker awards began, 86 laureates also have won Nobel Prizes.

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American Nobel: Screen Women for Cancer-Causing Genetic Mutations

New ACMG Video Encourages Med Students to Consider a Residency/Combined Residency in Medical Genetics

There has never been a more exciting and extraordinary time to consider a residency and career in medical genetics. Genetics and genomics are changing how we practice medicine and will increasingly guide day-to-day healthcare decisions. This fast-paced and engaging new video features current and recent medical genetics residents in interviews, in patient care situations, in group discussions and team meetings in a variety of settings.

From diagnosis to management and from rare diseases to the most common conditions, medical genetics is moving the practice of medicine forward. The future of medicine lies in a better understanding of the human genome and how to apply it to every aspect of medical practice - this new video from the American College of Medical Genetics and Genomics (ACMG) lets medical students know the variety of ways that they can play a role in this fascinating effort.

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American College of Medical Genetics - ACMG_HOME

PUBLIC RELEASE DATE:

7-Sep-2014

Contact: Krista Conger kristac@stanford.edu 650-725-5371 Stanford University Medical Center

A genetic mutation caused by ultraviolet light is likely the driving force behind millions of human skin cancers, according to researchers at the Stanford University School of Medicine.

The mutation occurs in a gene called KNSTRN, which is involved in helping cells divide their DNA equally during cell division.

Genes that cause cancer when mutated are known as oncogenes. Although KNSTRN hasn't been previously implicated as a cause of human cancers, the research suggests it may be one of the most commonly mutated oncogenes in the world.

"This previously unknown oncogene is activated by sunlight and drives the development of cutaneous squamous cell carcinomas," said Paul Khavari, MD, PhD, the Carl J. Herzog Professor in Dermatology in the School of Medicine and chair of the Department of Dermatology. "Our research shows that skin cancers arise differently from other cancers, and that a single mutation can cause genomic catastrophe."

Cutaneous squamous cell carcinoma is the second most common cancer in humans. More than 1 million new cases are diagnosed globally each year. The researchers found that a particular region of KNSTRN is mutated in about 20 percent of cutaneous squamous cell carcinomas and in about 5 percent of melanomas.

A paper describing the research will be published online Sept. 7 in Nature Genetics. Khavari, who is also a member of the Stanford Cancer Institute and chief of the dermatology service at the Veterans Affairs Palo Alto Health Care System, is the senior author of the paper. Postdoctoral scholar Carolyn Lee, MD, PhD, is the lead author.

Lee and Khavari made the discovery while investigating the genetic causes of cutaneous squamous cell carcinoma. They compared the DNA sequences of genes from the tumor cells with those of normal skin and looked for mutations that occurred only in the tumors. They found 336 candidate genes for further study, including some familiar culprits. The top two most commonly mutated genes were CDKN2A and TP53, which were already known to be associated with squamous cell carcinoma.

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Ultraviolet light-induced mutation drives many skin cancers, Stanford researchers find

Researchers have found that millions of skin cancers may be caused by a combination of a genetic mutation and ultraviolet light.

A study by investigators from the Stanford University School of Medicine found that the mutation occurs in a gene called KNSTRN, which helps cells divide their DNA during cell division.

KNSTRN is an oncogene a gene that causes cancer when mutated. The new research indicates that it may be one of the most commonly mutated oncogenes in the world.

"Thisoncogene is activated by sunlight and drives the development of cutaneous squamous cell carcinomas," said Paul Khavari, MD, PhD, the Carl J. Herzog Professor in Dermatology in the School of Medicine and chair of the Department of Dermatology. "Our research shows that skin cancers arise differently from other cancers, and that a single mutation can cause genomic catastrophe."

More than 1 million cases of cutaneous squamous cell are diagnosed annually worldwide. It is the second most common cancer in humans. The researchers found that KNSTRN is a factor in about 20 percent of cutaneous squamous cell carcinomas and in about 5 percent of melanomas, another form of skin cancer.

The mutation in the KNSTRN gene is linked to a cells unsuccessful attempt to repair itself after suffering damage from high-energy ultraviolet rays, such as those found in sunlight.

"Mutations at this UV hotspot are not found in any of the other cancers we investigated," said Khavari. "They occur only in skin cancers."

The findings were published in the journal Nature Genetics. Khavari and lead author Carolyn Lee, MD, PhD, plan to study 336 additional mutated genes.

Continued here:

Genetic Mutations and Skin Cancer