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Latest Genetic disorder Stories

2014-06-24 10:57:10

University of Oxford Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, say Oxford University researchers. The researchers, funded in part by the Medical Research Council (MRC), have come up with a computer programme that recognises facial features in photographs; looks for similarities with facial structures for various conditions, such as Down's syndrome, Angelman syndrome, or Progeria; and returns possible matches...

2014-06-09 12:30:50

HACKENSACK, N.J., June 9, 2014 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD) - the leading patient advocacy organization fighting to end Duchenne muscular dystrophy (Duchenne) - announced that a recent treatment preferences and benefit/risk study led by the organization has been published in Clinical Therapeutics. The article entitled, "A Community-Engaged Approach to Quantifying Caregiver Preferences for the Benefits and Risks of Emerging Therapies for Duchenne...

2014-05-07 20:24:01

LONDON, May 7, 2014 /PRNewswire/ -- Reportbuyer.com has added a new market research report:Genetic Disorders Partnering Terms and Agreementshttp://www.reportbuyer.com/pharma_healthcare/biotechnology/genetic_disorders_partnering_terms_agreements.htmlThe report will be delivered in PDF format within 3 working days of receipt of order. If print or CD-Rom version purchased, the report will be sent by courier using express service.The Genetic Disorders Partnering Terms and Agreements...

2014-02-11 23:30:06

Preimplantation genetic diagnosis FISH test allows doctors to identify genetic disease in embryos. Austin, TX (PRWEB) February 11, 2014 Monti and Robert wanted children, but knew they would be at risk for Hyper IGM syndrome, a rare genetic disease that claimed the lives of three of Monti’s brothers. An obgyn referral to Texas Fertility Center reassured them that with preimplantation genetic diagnosis, PGD, they could significantly reduce the risk of passing along the inheritable...

2014-02-04 16:28:13

Parabase Genomics and the UCLA Clinical Genomics Center Selected as Pilot Partners ALISO VIEJO, Calif., Feb. 04, 2014 /PRNewswire-USNewswire/ -- Eight years. That's the average amount of time patients wait to receive an official medical diagnosis when facing a rare genetic disease. The stress this medical diagnostic process places on families can be devastating. This year, undiagnosed rare disease patients will receive a gift of hope through an innovative whole genome sequencing pilot...

2013-11-27 23:27:24

San Diego-Based Medical Device Company Sequenom Highlights Cost Savings and Team Responsiveness Using ClinCapture, Clinovo’s Open Source Electronic Data Capture (EDC) System Sunnyvale, CA (PRWEB) November 27, 2013 Sequenom selected Clinovo among five shortlisted eClinical systems’ vendors for its open source Electronic Data Capture (EDC) system ClinCapture. Sequenom awarded Clinovo as their preferred vendor for the cost-efficiency of ClinCapture’s open source model and the team’s...

2013-11-25 10:02:42

Deficiency of asparagine synthetase caused by rare genetic disorder affects brain development Asparagine, found in foods such as meat, eggs, and dairy products, was until now considered non-essential because it is produced naturally by the body. Researchers at the University of Montreal and its affiliated CHU Sainte-Justine Hospital found that the amino acid is essential for normal brain development. This is not the case for other organs. "The cells of the body can do without it because...

2013-10-15 20:47:06

Powerful tool may lead to treatment of RP Research led by physician-scientists at Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine has produced a breakthrough discovery in diagnosing retinitis pigmentosa, a blinding disease that affects about 1 in 4,000 people in the United States. Rong Wen, M.D., Ph.D., and Byron Lam, M.D., professors of ophthalmology at Bascom Palmer, in collaboration with biochemist Ziqiang Guan, Ph.D., a research associate professor...


Word of the Day
caparison
  • A cloth or covering, more or less ornamented, laid over the saddle or furniture of a horse, especially of a sumpter-horse or horse of state.
  • Clothing, especially sumptuous clothing; equipment; outfit.
  • To cover with a caparison, as a horse.
  • To dress sumptuously; adorn with rich dress.
This word ultimately comes from the Medieval Latin 'cappa,' cloak.
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