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Latest Genetic disorders Stories

2012-09-17 23:11:46

A new light-based technique for measuring levels of the toxic protein that causes Huntington's disease (HD) has been used to demonstrate that the protein builds up gradually in blood cells. Published today (17th) in the Journal of Clinical Investigation, the findings shed light on how the protein causes damage in the brain, and could be useful for monitoring the progression of HD, or testing new drugs aimed at suppressing production of the harmful protein. HD is a fatal, incurable, genetic...

2012-08-21 01:01:40

Research conducted at the Angiogenesis Laboratory at Massachusetts Eye and Ear Infirmary, has for the first time, identified the mode of death of cone photoreceptor cells in an animal model of retinitis pigmentosa (RP). This groundbreaking study, led by Demetrios G. Vavvas, M.D., Ph.D., and including Joan W. Miller, M.D., Mass. Eye and Ear/Mass General Hospital Chief of Ophthalmology and Chair of Ophthalmology at Harvard Medical School, has further identified the receptor interacting protein...

2012-08-15 23:01:29

Neurofibromatosis advocates Mark Bornfeld, Catriona Miller, and Sheila Heal recently participated in the evaluation of research applications submitted to the Neurofibromatosis Research Program (NFRP) sponsored by the Department of Defense. They were nominated for participation in the program by Advocure NF2. As a consumer reviewer, they are full voting members, along with prominent scientists, at meetings to help determine how the $12.8 million appropriated by Congress for Fiscal Year...

2012-08-14 11:57:24

Two papers that will appear in the journal Molecular Psychiatry, both receiving advance online release, may help identify gene variants that contribute to the risks of developing obsessive-compulsive disorder (OCD) or Tourette syndrome (TS). Both multi-institutional studies were led by Massachusetts General Hospital (MGH) investigators, and both are the first genome-wide association studies (GWAS) in the largest groups of individuals affected by the conditions. "Previous studies of these...


Latest Genetic disorders Reference Libraries

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2007-12-13 19:44:51

The Munchkin is a fairly new breed of cat with a lot of controversy surrounding it. The breed is created by a mutation that causes achondroplasia, or hypochondroplasia, which results in the cats having abnormally short legs. The breed originated when a pregnant, short-legged black cat was discovered in Louisiana in 1983. One of her kittens, a tomcat, became the father of the breeding program for Munchkins. Several cat registries refuse to recognize the breed due to the controversy that...

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Word of the Day
baudekin
  • A rich embroidered or brocaded silk fabric woven originally with a warp of gold thread.
'Baudekin' seems to be an alternative form of 'baldachin,' from the Italian 'Baldacco,' Baghdad, the city where the material was made.
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