Studying Genetic Variance Across the World is Critical in Understanding the Effects of Genes
(Vocus) November 9, 2009 -- Understanding patients’ ancestries can be extraordinarily valuable when analyzing and interpreting scientific results. In a multi-center genetics study that scanned the genomes of 4,000 people throughout Europe and found clear regional differences, Drs. Chao Tian and Michael F. Seldin of the University of California, Davis, in collaboration with Peter K. Gregersen, MD, of The Feinstein Institute for Medical Research, identified allele frequency differences among ethnic groups and subgroups. The finding, published in the November/December issue of Molecular Medicine, is critical in the analysis of genetic studies because not knowing an individual’s ancestry could result in statistical errors that alter the outcome of the study.
“Until now, scientists have depended on a person’s knowledge of their ancestral roots when they study human populations to look for risk genes,” said Dr. Gregersen, head of the Center for Genomics and Human Genetics at the Feinstein Institute. But even among racial groups there can be significant differences in the frequencies of certain genetic alleles.
In another important study published in this issue of Molecular Medicine, investigators in The Netherlands and in Argentina conducted the first study of a metabolic disorder called Erythropoietic Protoporphyria (EPP) in a sample of Argentinean patients. They identified several novel mutations that could eventually lead to new therapies for this serious condition. People with EPP have an accumulation of protoporphyin in their red blood cells, plasma, liver and bile. This causes serious photosensitivity that can lead to burning, itching, swelling and painful skin in sun-exposed areas.
Other intriguing studies appearing in the journal include stem cell expression patterns in endometriosis; and that the hunger hormone, ghrelin (proven to contain potent anti-inflammatory effects), prevented radiation-induced injury.
Molecular Medicine (www.molmed.org) is published by The Feinstein Institute for Medical Research. The peer-reviewed journal strives to understand normal body functioning and disease pathogenesis at the molecular level, which may allow researchers and physician-scientists to use that knowledge in the design of specific molecular tools for disease diagnosis, treatment, prognosis and prevention. The journal, a bimonthly publication, serves as a forum through which scientists and researchers can communicate recent discoveries to a multi-disciplinary, international audience interested in understanding and curing disease.
To listen to the latest podcast on these studies visit www.molmed.org/podcast.html.
Contact: Veronica J. Davis, Communications Editor, 516-562-2670
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