Category Archives: Gene Medicine

14-02-2012 14:36 Rhonda Charles is a 2010 ASF Grant Winner and a PhD Student in the Department of Genetics and Genomic Sciences at the Mt. Sinai School of Medicine. Ms. Charles' work focuses on the AVPR1A gene, which affects social behavior and anxiety in autism spectrum disorder. Her ASF- funded study puts the human AVPR1A gene into a mouse model, a key step that must occur before we can introduce pharmacological treatments for individuals with autism affected by AVPR1A gene mutations.

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ASF Grantee Rhonda Charles uses mouse models to examine social behaviors in autism - Video

09-01-2012 01:43

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Yale researchers recently received a DNA sample from Turkey of twin newborns whose brains weren't developing properly. The physician figured it was a genetic problem, but had no way of analyzing it further.

"We identified a mutation in the folic acid receptor of the brain," said Murat Gunel, professor of genetics and neurobiology, adding that it's a very rare abnormality that forms during pregnancy. Most problems with brain development, he said, don't have an easy cure. In this case, though, Gunel and his fellow researchers at Yale immediately called the physician in Turkey and instructed him to give the babies very high doses of folic acid, which reverses the problem.

It was one of the first cases handled in a four-university project designed to solve the mysteries of thousands of disorders caused by inherited single-gene mutations, known as Mendelian diseases, named for the Austrian botanist and monk Gregor Mendel. The four-year project is funded by a $48 million grant from National Institutes of Health grant awarded in December. The other recipients are researchers at the University of Washington and a collaborative team of researches from Baylor College of Medicine in Houston and Johns Hopkins University in Baltimore. Yale's share of the grant -- $11.2 million goes to the university's new Center for Mendelian Disorders.

By collecting and analyzing DNA samples of these disorders from around of the world, the researchers hope to shed some light on how to treat them. To coordinate, the researchers talk by phone every weeks and will meet in person three or four times a year.

"We're identifying the disease-causing mutations in as many genes and as many diseases as possible," Gunel said.

Single gene mutations cause thousands of diseases, about 3,000 of which are still unexplained. Individually, the diseases are fairly rare, but together affect some 25 million people in the U.S.

James Lupski, professor of molecular genetics at Baylor, said many of these diseases are more common in parts of the world where more children are born to parents who are related, which increases the risk of recessive genetic disorders.

This kind of work would have been nearly impossible just a few years ago, when it could take months and millions of dollars to map a human genome. Today, new technology can get the job done in days, and the next generation of machines promises to map an entire genome within 24 hours for $1,000. But there's still a matter of analyzing the data.

"It takes a couple of months to do analysis," said Shrikant Mane, who runs the Center for Genome Analysis at Yale. "It's one thing to generate the data, but then the rest of it is analysis."

The Yale researchers will make use of exome sequencing, a process developed at Yale that selectively sequences the region of the genome that contains genes that code for proteins.

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Unlocking The Mysteries Of Single Gene Mutations

--Findings could be a step toward developing better drugs for coronary artery disease and preventing heart attacks

Newswise Researchers, led by scientists from Johns Hopkins, have found five previously unknown gene mutations believed to be associated with elevated blood platelet counts in African-Americans, findings they say could someday lead to the development of new drugs to help prevent coronary artery disease.

The study is believed to be the first of its size to focus on platelet genetics in African Americans, who have a higher risk of stroke than other racial groups. They also have relatively higher platelet counts and average platelet volume, and worse outcomes than whites after a heart attack.

Improving our understanding of the biology and genetics of platelets and how they function will aid us in developing better treatments and more individualized treatments to reduce risk of heart disease associated with platelets, says study leader Rehan Qayyum, M.D., an assistant professor in the division of general internal medicine at the Johns Hopkins University School of Medicine.

Qayyum cautions that there are believed to be many more genes involved in platelet function that remain unknown.

Platelets are cells produced in bone marrow, smaller than red or white blood cells, which foster blood clotting. While clotting is critical to stop bleeding after injuries, it can also cause harm by allowing clumps of blood cells to clog blood vessels leading to the heart, brain and other organs, cutting off blood flow.

Studies have shown that the greater the platelet volume or count in the blood, and the larger platelets are, the greater the risk of dangerous clot formation. Qayyum notes that the number of platelets in a given amount of blood (platelet count) and the size of these platelets (measured as average platelet count) vary from person to person in much the way that height, weight and eye color traits differ. Thus, he said, the search for genes that control this variation is a potentially fruitful line of scientific inquiry.

Qayyum and his colleagues, publishing in the online journal PLoS Genetics, report that they conducted a meta-analysis and genomewide association study, looking at genetic data from 16,000 African-American participants from seven separate studies. They compared information from each study, tracking 2.5 million single possible changes in the human genetic code to see which genes stood out across the entire group as significantly associated with increased or decreased platelet counts.

The researchers found five such alterations, involving the addition or deletion of a single piece of genetic code, across the studied genomes that had not been identified in other populations. When they checked their findings against data from Caucasian and Hispanic groups, they found three of the novel gene mutations in those populations, too. Four of the previously unknown gene mutations were later found in the genetic code of platelet cells, but one was not. That one, however, was found close to a gene that is known to be essential in the formation of normal platelets. The exact role played by each of these mutations still needs to be determined, Qayyum says.

Qayyum says one goal of their research is to identify new targets for drugs that decrease platelet aggregation in the arteries and prevent clot formation. Blood thinners, including aspirin, clopidogrel and warfarin, are widely used antiplatelet medications. But some people cant tolerate the side effects, which include bleeding, bruising and gastrointestinal upset.

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Researchers Find Five Novel Gene Mutations Linked to Platelet Counts in African Americans

Public release date: 1-Mar-2012 [ | E-mail | Share ]

Contact: Stephanie Desmon sdesmon1@jhmi.edu 410-955-8665 Johns Hopkins Medical Institutions

Researchers, led by scientists from Johns Hopkins, have found five previously unknown gene mutations believed to be associated with elevated blood platelet counts in African-Americans, findings they say could someday lead to the development of new drugs to help prevent coronary artery disease.

The study is believed to be the first of its size to focus on platelet genetics in African Americans, who have a higher risk of stroke than other racial groups. They also have relatively higher platelet counts and average platelet volume, and worse outcomes than whites after a heart attack.

"Improving our understanding of the biology and genetics of platelets and how they function will aid us in developing better treatments and more individualized treatments to reduce risk of heart disease associated with platelets," says study leader Rehan Qayyum, M.D., an assistant professor in the division of general internal medicine at the Johns Hopkins University School of Medicine.

Qayyum cautions that there are believed to be many more genes involved in platelet function that remain unknown.

Platelets are cells produced in bone marrow, smaller than red or white blood cells, which foster blood clotting. While clotting is critical to stop bleeding after injuries, it can also cause harm by allowing clumps of blood cells to clog blood vessels leading to the heart, brain and other organs, cutting off blood flow.

Studies have shown that the greater the platelet volume or count in the blood, and the larger platelets are, the greater the risk of dangerous clot formation. Qayyum notes that the number of platelets in a given amount of blood (platelet count) and the size of these platelets (measured as average platelet count) vary from person to person in much the way that height, weight and eye color traits differ. Thus, he said, the search for genes that control this variation is a potentially fruitful line of scientific inquiry.

Qayyum and his colleagues, publishing in the online journal PLoS Genetics, report that they conducted a meta-analysis and genomewide association study, looking at genetic data from 16,000 African-American participants from seven separate studies. They compared information from each study, tracking 2.5 million single possible changes in the human genetic code to see which genes stood out across the entire group as significantly associated with increased or decreased platelet counts.

The researchers found five such alterations, involving the addition or deletion of a single piece of genetic code, across the studied genomes that had not been identified in other populations. When they checked their findings against data from Caucasian and Hispanic groups, they found three of the novel gene mutations in those populations, too. Four of the previously unknown gene mutations were later found in the genetic code of platelet cells, but one was not. That one, however, was found close to a gene that is known to be essential in the formation of normal platelets. The exact role played by each of these mutations still needs to be determined, Qayyum says.

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Researchers find 5 novel gene mutations linked to platelet counts in African Americans

13-02-2012 08:31 The new frontier of cancer treatment, personalized medicine, involves identifying specific genetic abnormalities in cancerous cells and targeting them with drugs that are most likely to cause an effective response. Pasi Janne, MD, PhD, discusses the discovery that some types of non-small cell lung cancer and colorectal cancer share similar genetic abnormalities with cancers that are known to respond to targeted therapies, and explains how this new knowledge can help identify patients with specific genetic mutations that might respond to existing drugs. Read more: http://www.dana-farber.org

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Pasi Janne on new lung and colorectal cancer gene discovery | Dana-Farber Cancer Institute - Video