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Elizabeth Cooney is a health reporter for the Worcester Telegram & Gazette.
Boston Globe Health and Science staff:
Scott Allen
Alice Dembner
Carey Goldberg
Liz Kowalczyk
Stephen Smith
Colin Nickerson
Beth Daley
Karen Weintraub, Deputy Health and Science Editor, and Gideon Gil, Health and Science Editor.
 Short White Coat blogger Ishani Ganguli
 Short White Coat blogger Jennifer Srygley
Week of: October 21
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Wednesday, October 24, 2007

Boston group to share genetic data on autism

A Boston group is sharing genetic information from families affected by autism with other researchers to promote understanding of the developmental disorder.

The Autism Consortium, whose members include hospitals, medical schools and universities in the Boston area, will transfer profiles of 500,000 genetic variations found across the genomes of 700 families with two or more children who have autism. The data will be held by the Autism Genetic Resource Exchange, a program of the advocacy organization Autism Speaks. Scientists can apply to the exchange, which gathered DNA from the families. The samples have been scanned for sequences where there are deletions or extra copies of DNA segments. The consortium is sharing the genetic variations it found.

"We returned all of the raw data to AGRE so they can distribute it to any other investigtors who want to begin exploring what may be the genetic underpinnings of autism," Mark Daly, a consortium member from Massachusetts General Hospital and the Broad Institute of MIT and Harvard, said in an interview. "Understanding the genetics underlying a complex disease is not an easy problem to solve. So there's no excuse for hoarding your data when much more can be learned by sharing."

Only a small percentage of autism arises from a recognizable genetic cause, such as Fragile X syndrome, Daly said. Recent research suggests that some families with autism might have higher rates of genomic abnormalities, but very few of these abnormalities have been conclusively identified.

"There's very strong heritability to autism but very little of the heritability has been explained by specific mutations of specific genes," he said. "What we hope is that this data is a starting point. We need to perform collaborative research in the spirit of the Human Genome Project to deliver on the trust the public has placed in us."

Members of the Autism Consortium are Beth Israel Deaconess Medical Center, Boston Medical Center, Boston University, Boston University School of Medicine, the Broad Institute of MIT and Harvard, Cambridge Health Alliance, Children’s Hospital Boston, Harvard University, Harvard Medical School, Massachusetts General Hospital, Massachusetts Institute of Technology, McLean Hospital and Tufts-New England Medical Center.

Posted by Elizabeth Cooney at 11:37 AM

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Tuesday, October 9, 2007

Local researchers win grants to explore human genome

Two local researchers have received government grants to explore the organization and function of the human genome, part of an expansion of a project that already has shown the genome to be far more complex than previously thought.

Dr. Bradley Bernstein of the Broad Institute of MIT and Harvard and Zhiping Weng of Boston University are among principal investigators in the ENCyclopedia Of DNA Elements, or ENCODE, a project funded by the National Human Genome Research Institute. The insititute announced more than $80 million in grants today.

Bernstein has won $4.8 million over four years to study proteins important in DNA packaging in human cells. Weng will receive $1.5 million over three years to identify binding sites in regions of DNA that guide how genes are transcribed.

Posted by Elizabeth Cooney at 05:24 PM

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Thursday, September 27, 2007


Researchers from Boston and Cambridge have won two of three prizes for young cancer investigators.

Angelica%20Amon100%202.bmpToddGolub100.bmpAngelika Amon (left) of MIT and Dr. Todd R. Golub of Dana-Farber Cancer Institute and the Broad Institute of Harvard and MIT will receive the 2007 Paul Marks Prize for Cancer Research from Memorial Sloan-Kettering Cancer Center. The prize recognizes contributions to understanding the treatment of cancer made by scientists under the age of 45.

Amon studies how chromosomes segregate during cell division and Golub uses genomic approaches to classify subtypes of cancer. They will share a $150,000 prize with the third winner, Gregory J. Hannon of Cold Spring Harbor Laboratory, who studies the biology and biochemistry of RNA interference. All three winners are also Howard Hughes Medical Institute investigators.

Posted by Elizabeth Cooney at 03:31 PM

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Wednesday, September 5, 2007

This week in the New England Journal of Medicine

A single variant of a gene is linked to an increased risk for both rheumatoid arthritis and systemic lupus erythematosus, providing support for the idea that common risk genes and disease pathways are involved in many autoimmune disorders, authors including researchers at the Broad Institute, Brigham and Women's Hospital and Biogen Idec report.

Giving critically ill patients recombinant human erythropoetin did not reduce the need for red-blood-cell transfusions, but it may reduce deaths in trauma patients, according to an article by researchers including doctors from the Boston University School of Medicine and University of Massachusetts Medical School.

Posted by Elizabeth Cooney at 05:26 PM

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Tuesday, September 4, 2007

NIH grants focus on genes and the environment

Seven Massachusetts researchers have won grants from a new government program to study how genes and the environment interact, the National Institutes of Health announced today.

Through the Genes, Environment and Health Initiative, researchers will study the genetics of such diseases as diabetes, cancer, heart disease and tooth decay. To learn about the environmental component, scientists will develop ways to monitor personal exposure, whether to toxins or to physical activity.

The Broad Institute of MIT and Harvard, led by Stacey Gabriel, will receive $3.8 million to become one of two genotyping centers for the initiative. The other is at Johns Hopkins University in Baltimore.

Individual investigators and their projects are:

Dr. Frank Hu, Harvard School of Public Health, genes and environment initiatives in type 2 diabetes, $622,000;

Patty Freedson, University of Massachusetts, Amherst, development of an integrated measurement system to assess physical activity, $411,000;

Stephen Intille, MIT, enabling population-scale physical activity measurement on common mobile phones, $681,000;

Bevin Engelward, MIT, comet-chip high-throughput DNA damage sensor, $429,000;

Bruce Kristal, Brigham and Women’s Hospital, mitochondrial, metabolite and protein biomarkers of effects of diet, $454,000;

Dr. Avrum Spira, Boston University, a non-invasive gene expression biomarker of airway response to tobacco smoke, $643,000.

Posted by Elizabeth Cooney at 12:57 PM

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Thursday, May 3, 2007

Genetic link to heart disease found

By Colin Nickerson, Globe Staff

Scientists using powerful new genetics research methods have for the first time identified a snippet of DNA common to many people that dramatically increases the chances of developing heart disease.

The discovery, revealed in two large and independent studies in North America and Europe, indicates that 75 percent of Caucasians possess a previously unknown genetic defect that puts them at elevated risk of a heart attack regardless of bad habits -- smoking, for example -- or bad health, such as hypertension or high cholesterol levels. The increased risk is most substantial for the 25 percent of Caucasians who have two copies of this defective DNA, one on each set of chromosomes.

"This is one of the most significant genetic risk factors found to date for heart attack," said Dr. Kari Stefansson, chief executive of DeCode Genetics, an Iceland-based company famous for its gene-hunting prowess.

"The variant may account for one-fifth of heart attacks" among white Europeans and North Americans, he said in a telephone interview.

Heart disease is the deadliest affliction in the western world. In the United States alone, some 1.2 million people suffer a heart attack every year and at least 452,000 die from it, according to the American Heart Association.

Human DNA is mostly the same, with less than 1 percent of the "letters" that make up the genetic code varying among individuals. Those differences, called gene variants, can account for such distinguishing traits as green eyes or blonde hair. But gene variants can also translate into susceptibility to diseases.

The newly-identified genetic variant appears unrelated to other risk factors for heart attack, according to the studies, which were published online today by the journal Science.

"This is a very common genetic variant, which has a very strong effect on heart disease risk, that isn't related to any of the other factors we know of," said Dr. Ruth McPherson, an endocrinologist at Canada's University of Ottawa Heart Institute, leader of the other research team.

Scientists believe that they will ultimately find many genes that can contribute to heart disease, just as there might be genes that protect the heart. They also stress that environmental and lifestyle factors can cause heart disease in individuals without a genetic predisposition.

Intense medical interest was stirred by the genetic location of the heart disease variant. Both studies showed the morsel of DNA appears to be encoded on the same chromosome in almost exactly the same "neighborhood" as genes identified in papers published only last week as connected to the most common form of diabetes.

At the very least, that's extraordinary coincidence. It also raises the possibility of a lethal bunching of DNA responsible for multiple ailments.

"It's a stunner," said Dr. Francis S. Collins, director of the National Human Genome Research Institute, who was not involved in either heart study. "It seems like this place [possibly] carries all of that weight for two very common and very dangerous diseases."

No one knows why DNA variants associated with the two diseases might lie in such close genetic proximity.

"This may suggest a causal link between these two disorders that is much deeper than previously suspected," Dr. David Altshuler, director of medical and population genetics at the Broad Institute, a Cambridge research center affiliated with Harvard and the Massachusetts Institute of Technology, wrote in an e-mail.

"It is too early to say anything with certainty," he said, "but very exciting days, to be sure."

Altshuler led one of the diabetes research teams but was not involved with the hunt for the heart disease genes. Of the overall heart variant discovery, he said: "It is an extremely convincing and exciting finding, with great potential to influence our understanding of coronary artery disease."

The Canadian and Icelandic researchers compared people who had heart disease with healthy individuals, looking for common genetic variants that were far more prevalent among the heart patients. They found that an individual who possesses two copies of the newly-identified genetic variant has a 30- to 40 percent higher risk of suffering a heart attack than an individual of comparable age and health who does not. A person carrying a single copy of the defect has a 15- to 20 percent increase in risk.

Discovery of the genetic variant represents a potentially important tool for diagnosing people at risk of heart disease, one which might become available to hospitals and clinics as early as this year, according to DeCode's Stefansson. But researchers admit that the genetic research is still a long way from yielding new treatments.

"The hope is that by discovering genetic predisposition to heart attack, we can identify people who are at greater risk for genetic reasons alone," said McPherson, "and in the long run can develop custom-tailored treatments."

Other studies have linked heredity to heart disease, but previously identified "bad" genes have tended to be either rare or linked to other illnesses that cause or exacerbate coronary ailments.

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Thursday, April 26, 2007

Genetic understanding of diabetes deepens

By Alice Dembner, Globe Staff

Four separate scientific teams, including one led by Harvard researchers, are today reporting progress toward unraveling the genetic basis of the most common form of diabetes.

They have identified three new genetic risk factors and confirmed five others that were discovered over the last few years. An additional risk factor identified by one group has not yet been confirmed by others.

Together, the genetic defects account for about 5 percent of the risk of getting the illness, said David Altshuler, associate professor of genetics and medicine at Harvard Medical School and a leader of one of the four teams that included the Broad Institute of Harvard and MIT.

"The picture that is emerging is of multiple genes, each with a modest effect" on diabetes, he said.

Overall, genetics account for about half the risk of getting type 2 diabetes, according to Altshuler. Environment and such behaviors as obesity and lack of exercise account for the remaining risk.

More than 20 million Americans now have type 2 diabetes and scientists estimate that about 54 million more are at risk of getting the illness. The disease harms the body's ability to control blood sugar and can lead to heart disease, blindness and early death.

The new research is expected to provide leads for development of new treatments and possibly ways to prevent diabetes.

"The pharmaceutical industry is absolutely salivating at all of these studies because they represent the best validation of a new drug target," said Dr. Francis Collins, director of the National Human Genome Research Institute and a leader of another of the teams. But Collins cautioned that it could be a decade before patients see any new drugs from the research.

The work is unusual because three of the four scientific groups collaborated to confirm their results, making the findings extremely solid. In addition, the results identified some genetic areas that are not connected to any known mechanism behind diabetes.

The results were published today in the online editions of the journals Science and Nature Genetics.

They are all based on a new research technique called genome-wide association studies, in which scientists compare genetic samples from thousands of individuals with a specific illness to those without it. Differences between the two are examined as possible genetic causes of the disease.

Posted by Karen Weintraub at 02:05 PM

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Monday, April 23, 2007

Possible bipolar disorder genes found, scientist reports

By Carey Goldberg, Globe Staff

The data are so fresh and preliminary that researchers have not submitted a paper to a scientific journal yet. But Pamela Sklar, a geneticist at the Broad Institute and Massachusetts General Hospital, said yesterday that new genome scans have identified a crop of previously unsuspected genes that -– at first glance, at least -– may be connected to bipolar disorder.

Sklar spoke to the Boston Mental Health Research Symposium at the Boston Harbor Hotel, an event sponsored by NARSAD -– The Mental Health Research Association, a major funder of research on mental illness. The results are far from definitive, she said, and need to be replicated.

Sklar and others are taking advantage of rapid advances in gene-scanning technology to try to find the elusive genes for bipolar disorder –- which is believed to affect about 1 percent of the population -– as well as schizophrenia and other mental illnesses.

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Friday, April 20, 2007

This week in Science

germ 150.bmpThis week's Science includes a special section on germ cells -- the reproductive cells of an organism.

George Q. Daley of Children's Hospital Boston, Brigham and Women's Hospital and the Harvard Stem Cell Institute asks whether the cup is half empty or half full for embryonic stem cells.

David C. Page of the Whitehead Institute and MIT considers the mysteries of sexual identity from the germ cell's perspective.

Alexander F. Schier of the Broad Institute of Harvard and MIT writes about the death and birth of RNAs during the maternal-zygotic transition.

Also in Science, Rachael L. Neve of Harvard and McLean Hospital is an author of a new study in mice about neurons competing to encode a memory in the brain.

Posted by Elizabeth Cooney at 01:03 PM

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Monday, April 16, 2007

New genetic risk factors for Crohn's disease identified

Researchers from Massachusetts General Hospital and the Broad Institute of Harvard and MIT are part of a team that has discovered new genetic risk factors for Crohn's disease.

Reporting in the online Nature Genetics, they identify new genes that are involved in the immune system's response to bacteria. Crohn's disease, which affects about half a million Americans, is a chronic inflammatory bowel disease.

The authors include John D. Rioux, who has moved from the Broad to the Universite de Montreal, Ramnik J. Xavier, Alan Huett and Petric Kuballa of MGH, Todd Green of the Broad, and Mark J. Daly of the Broad and MGH.

Posted by Elizabeth Cooney at 03:03 PM

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Eric Lander honored for work in genomics

lander100.bmpEric S. Lander (left), founding director of the Broad Institute of Harvard and MIT and a leader of the Human Genome Project, has won the 2007 Society for Biomolecular Sciences Achievement Award for his study of genes and how they function in health and disease.

He will receive the award, which carries a $5,000 honorarium, and present a talk called "Beyond the Human Genome" at this week's SBS meeting in Montreal. Past recipients have included Stuart L. Schreiber, also of the Broad, in 2004.

Posted by Elizabeth Cooney at 11:31 AM

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Monday, April 9, 2007

MGH group to study genes and heart attacks

Researchers at Massachusetts General Hospital have won a three-year, $4.2 million grant from the National Heart, Lung and Blood Institute to study genes that may put people at risk for heart attacks, the hospital said.

Dr. David Altshuler, also a founding member of the Broad Institute of Harvard and MIT, and Dr. Sek Katherisan will look at gene variations in 1,500 people who had heart attacks at an early age and 1,500 who did not. They will use data from a study started in 1998 at eight sites, including Mass. General, that make up the Myocardial Infarction Genetics Consortium.

In men under 50 and women under 60, genes may play a greater role in heart attacks, they said. Heart attacks cluster in certain families, regardless of traditional risk factors, but this inherited risk is not explained by gene variants already known to contribute to disease.

Posted by Elizabeth Cooney at 01:52 PM

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Wednesday, March 7, 2007

$100 million to be spent unlocking the genetic mysteries of mental illness

By Carey Goldberg, Globe Staff

It looks to be the largest single gift ever for research into mental illness: The Broad Institute, the genomics powerhouse in Cambridge, announced this evening that it will receive $100 million to figure out the genetics of schizophrenia and bipolar disorder.

The money comes from the Stanley Medical Research Institute, a family philanthropy based in Maryland.

It will go mainly to gather and analyze thousands of DNA samples from people with schizophrenia and bipolar disorder, in hopes of finally figuring out the complex genetics behind the diseases.

That is no easy task. The diseases afflict more than 6 million Americans, and clearly run in families. But the specific genes at work have proven largely elusive. Multiple genes are believed to be involved, and they could vary from patient to patient. Environment, too, plays a role.

But in the last year or so, gene-scanning technology has reached the point that scientists believe they can run studies on a scale large enough to detect the genetic culprits, said Dr. Edward Scolnick, who oversees the Broad's psychiatric research. He wants to gather DNA samples from as many as 10,000 people with each disease, plus 10,000 without.

That DNA then needs to be scanned in its entirety for genes correlated to the disease, and that is where the Broad's expertise comes in.

Its genomic tools have been getting ever faster and cheaper, so that it can now scan a patient's sample for half a million genetic variations at once. In a couple of months, said Eric Lander, the Broad's director, that will be up to a full million.

"If you're looking for a needle in a haystack, and you can sift the whole haystack, you'll find the needle," Lander said.

The Broad is a joint institute of Harvard University and the Massachusetts Institute of Technology.

Posted by Karen Weintraub at 05:04 PM
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