National Human Genome Research Institute Plans Medical Sequencing
The National Human Genome Research Institute (NHGRI) is planning to do medical sequencing for the first time as part of its Large-Scale Sequencing Network. They plan to use whole genome sequencing, genome mapping, and sequencing of genomic regions to identify genes involved in both rare and common human diseases.
The first medical sequencing project, predicted to begin in the next year, will be a demonstration project to find the genetic variations responsible for seven rare, autosomal Mendelian disorders. The demonstration project will establish the best procedures for obtaining quality samples, for determining the minimum number of affected and control samples needed, and for deciding how the data will be released to the biomedical research community.
The following genes will be targeted:
- Familial forms of atrial fibrillation, a major risk factor for heart failure and stroke
- Thoracic aortic aneurysms, which are life-threatening tears in the major artery of the heart
- Dominant restrictive cardiomyopathy, another heart disorder
- Paroxysmal kinesigenic choreoathetosis, a neurological condition
- Neovascular inflammatory vitreoretinopathy, a blinding disorder
- Lymphedema-cholestasis syndrome, a hereditary disorder causing jaundice and leg swelling
- Joubert syndrome, a rare brain and physical development disorder
- High blood pressure
- Cholesterol
- Body weight
NIH News, October 17, 2005
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POSTED IN: General Genetics and Health
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