all David M. Altshuler stories

International study identifies gene variants associated with early heart attack

50443248 — Fri, 06 Feb 2009 13:48:40 -0500

The largest study ever completed of genetic factors associated with heart attacks has identified nine genetic regions — three not previously described — that appear to increase the risk for early-onset myocardial infarction. The report from the Myocardial Infarction Genetics Consortium, based on information from a total of 26,000 individuals in 10 countries, was given early online release today by Nature Genetics.

Database of human genetic diversity allows identification of disease-associated genes

404132862 — Wed, 17 Oct 2007 12:35:30 -0400

Investigators from six countries have completed the second phase of the International HapMap Project, an effort to identify and catalog genetic similarities and differences among populations around the world.

Information provided in the first phase of the HapMap, completed in 2005, has led to the development of techniques facilitating the search for genes associated with common diseases – such as schizophrenia and heart disease – and the identification of more than 50 such disease-associated genes.

HapMap reveals roots of common diseases

70652986 — Mon, 26 Mar 2007 06:22:56 -0400

The genes that everyone inherits contain coded information that influences which diseases any individual is most at risk of getting. Countless studies show that small variations in genes play a major role in a host of common maladies that produce untold suffering and premature death. However, progress in tying these variations to specific maladies has been slow.

On Oct. 26, the Broad Institute of Harvard and Massachusetts Institute of Technology announced publication of the largest catalog of common disease-related genetic changes ever assembled. It was prepared by an international group of 200 researchers from Canada, China, Japan, Nigeria, the United Kingdom, and the United States.

The catalog "is a powerful new tool for exploring the root causes of common diseases," says David Altshuler, a member of the Broad Institute and associate professor of genetics at Harvard Medical School and Massachusetts General Hospital. "Such understanding is required for us to develop new and much needed approaches to prevent, diagnose, and treat many diseases."

Previous studies show that any two unrelated people possess sets of about 25,000 genes that are 99.9 percent identical at the most basic level. In other words, your genes are roughly the same as those of Osama bin Laden, Martha Stewart, and Michael Jackson. Only 0.1 percent of the variable units in human genes account for all the inherited diversity in our looks, bodies, and behaviors.

But that 0.1 percent includes some 10 million small changes that make it more or less likely that any person will get one or more of the common diseases. They could explain why one person gets bipolar depression and others do not, why one medication successfully treats high blood pressure in one person but produces devastating side effects in another.

HapMap: First look at 'order in variety' of human genome

50443248 — Fri, 20 Jul 2007 11:25:34 -0400

The completion of the human genome sequence in 2003, though momentous, was only the first step toward grasping the core mechanisms of human biology and disease. This ultimate biomedical goal also requires a comprehensive catalog of the genetic diversity in the human genome sequence across human populations. A flurry of high-profile scientific papers published this week heralds the success of pulling together such a catalog. The manuscripts describe both the content and uses of HapMap, a catalog that maps human genetic variation and relates it both to disease and to human evolutionary history. HapMap gives scientists worldwide a first good look at the "order in variety" that is the human genome.
All these studies are grounded in data presented in a significant paper published in the Oct. 27 issue of the journal Nature by an international consortium of more than 200 researchers from Canada, China, Japan, Nigeria, the United Kingdom, and the United States. In this paper, the authors describe the patterns of genetic variation in hundreds of human DNA samples collected from four sites around the world.

Perhaps the most striking finding in this mountain of data is the overwhelming evidence for previous work that suggested that human genetic variants located physically close to each other in the genome are collectively inherited as groups, or "haplotypes." The implications - and potential value - of the genome's haplotype structure for medicine has only begun to be realized.

First edition of HapMap released

70652986 — Mon, 26 Mar 2007 05:41:20 -0400

A flurry of high-profile scientific manuscripts published in October 2005 describe both the content and uses of HapMap, a catalog that maps human genetic variation and relates it both to disease and to human evolutionary history. HapMap gives scientists worldwide a first good look at the "order in variety" that is the human genome.

All these studies are grounded in data presented in a significant paper published in the Oct. 27, 2005 issue of the journal Nature by an international consortium of more than 200 researchers from Canada, China, Japan, Nigeria, the United Kingdom and the United States. In this paper, the authors describe the patterns of genetic variation in hundreds of human DNA samples collected from four sites around the world.

Perhaps the most striking finding in this mountain of data is the overwhelming evidence for previous work that suggested that human genetic variants located physically close to each other in the genome are collectively inherited as groups, or "haplotypes." The comprehensive catalog of human genetic variation, now known as the "HapMap", is publicly available to the biomedical research community. The implications - and potential value - of the genome's haplotype structure for medicine has only begun to be realized.

"Built upon the foundation laid by the human genome sequence, the HapMap is a powerful new tool for exploring the root causes of common diseases. We absolutely require such a resource so that we can develop new and much-needed approaches to understand these diseases, such as diabetes, bipolar disorder, cancer and many others, " said David Altshuler, director of the program in Medical and Population Genetics of the Broad Institute of Harvard and MIT and associate professor of genetics and of medicine at Massachusetts General Hospital and Harvard Medical School. Altshuler and Peter Donnelly, of the University of Oxford in England, are the corresponding authors of the Nature paper.

The next big thing in mining the genome

70652986 — Mon, 26 Mar 2007 05:22:07 -0400

About 99.9 percent of the 3.1 billion base pairs in the human genome are the same from person to person. The remaining 0.1 percent of differences comprises more than 10 million common single-letter genetic variations (and many more rare variants) scattered through the genome. By the numbers, a comprehensive search for the multiple genetic contributions to prevalent conditions such as diabetes and Alzheimer's has loomed as a long, slow, and expensive prospect. Now, potentially simplifying the search, scientists say long blocks of DNA have traveled from one generation to the next with little genetic shuffling, according to a study published in Science in June 2002. These genome segments are called haplotype blocks.