all Mark Daly stories

A rare glimpse of schizophrenia's genetic roots

404132862 — Tue, 05 Aug 2008 20:19:40 -0400

The delusions and hallucinations of schizophrenia can be devastating for the 1% of the population struck by the disease. The condition clearly has a genetic component, evidenced by its tendency to run in families. However, the search for specific genes or chromosomal regions involved has led to few reproducible findings.

Chromosomal abnormality linked to autism disorders

404132862 — Wed, 09 Jan 2008 17:04:29 -0500

Researchers have fitted another piece into the complex genetic puzzle that is autism, finding DNA deletions and duplications on a specific chromosome that they say explains one to two percent of the 1.5 million cases of autism and related disorders in the United States today.

The genetic changes were discovered in DNA scans of more than 3,000 people, both with and without autism spectrum disorder, a category of developmental disability that includes autism disorder, Asperger’s syndrome, and a broad category called “pervasive developmental disorder not otherwise specified.”

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.

Discovery of calcium channel protein illuminates T cell signaling

70652986 — Mon, 26 Mar 2007 06:26:42 -0400

A rare genetic defect in a family has helped researchers identify a key signaling component in T cells.

The newly identified protein, Orai1, may be a piece of a long- sought calcium channel in T cells that is critical for lymphocyte function. When two siblings inherited two copies of a mutant form of Orai1, it caused a severe impairment of their immune systems.

Now, more than a decade after their case was reported, Yousang Gwack and Stefan Feske in Anjana Rao's lab have found the protein responsible for the disease. Their findings appear in the April 2, 2006 Nature.

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.