Quantcast
Last updated on April 24, 2014 at 17:35 EDT

Latest Genetic disorders Stories

2012-07-09 18:20:50

CAMBRIDGE, Mass., July 10, 2012 /PRNewswire/ -- Inspiration Biopharmaceuticals, Inc. (Inspiration) today announced that the U.S. Food and Drug Administration (FDA) has notified the Company that the agency has placed a clinical hold on clinical trials evaluating the safety and efficacy of IB1001, an intravenous recombinant factor IX (rFIX) being investigated for the treatment and prevention of bleeding episodes in people with hemophilia B. The clinical hold impacts two ongoing...

2012-07-09 16:28:35

Systemic complications include life-threatening thoracic aortic disease Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome. Genome-wide analysis of two unrelated families, one...

2012-07-09 10:23:21

ANN ARBOR, Mich., July 9, 2012 /PRNewswire-USNewswire/ -- The inaugural $100,000 Taubman Prize for Excellence in Translational Medical Science has been awarded to Harry Dietz, M.D., of the Johns Hopkins University, the University of Michigan's A. Alfred Taubman Medical Research Institute announced today. Dietz, a cardiologist and genetics researcher, has made groundbreaking progress in the understanding of aortic aneurysm and related tissue disorders. His lab is the first to...

Susceptibility Genes Can Be Revealed From Exome Sequencing Of Health Condition Extremes
2012-07-09 10:55:33

DNA from cystic fibrosis patients with and without chronic infections points to unsuspected mutation Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibility. This approach discovered rare variations in the DCTN4 gene among cystic fibrosis patients most prone to early, chronic airway infections. The DCTN4 gene codes for dynactin 4. This protein is a component of a molecular motor that moves trouble-making...

2012-07-09 10:54:16

The challenge of treating patients with genetic disorders in which a single mutated gene is simply too large to be replaced using traditional gene therapy techniques may soon be a thing of the past. A Nationwide Children's Hospital study describes a new gene therapy approach capable of delivering full-length versions of large genes and improving skeletal muscle function. The strategy may hold new hope for treating dysferlinopathies and other muscular dystrophies. A group of untreatable...

2012-07-08 22:21:10

PARIS, July 9, 2012 /PRNewswire/ -- Inspiration Biopharmaceuticals, Inc. (Inspiration) today reported data from its ongoing Phase 2/3 study evaluating the efficacy of OBI-1, an investigational recombinant porcine factor VIII (FVIII), for the treatment of serious bleeds in people with acquired hemophilia A. According to the interim analysis, seven out of seven trial participants receiving OBI-1 experienced control and subsequent resolution of their bleeds. Edward Gomperts, MD, Attending...

2012-07-07 22:20:15

WAYNE, N.J., July 8, 2012 /PRNewswire/ -- Bayer HealthCare today announced the company has started to enroll patients in an international Phase II/III trial to evaluate its investigational compound BAY94-9027 for the treatment of hemophilia A. The PROTECT VIII (PROphylaxis in hemophilia A patienTs via directly pEgylated long-aCTing rFVIII) trial is designed to investigate whether BAY94-9027, a recombinant human factor VIII (rFVIII), can prolong the duration of protection from bleeds and allow...

2012-07-06 23:03:42

New study “Global Hemophilia Market Report: 2012 Edition” developed by Koncept Analytics has been recently published by Market Publishers Ltd. According to the study, the global market for hemophilia products has shown continuous growth in the past years growing at 8.96% CAGR from 2006 to 2011 and is projected to expand steadily in the upcoming years. London, UK (PRWEB) July 06, 2012 The global market for hemophilia products has shown continuous growth in the past years growing...

2012-07-06 23:00:08

Muscle atrophy a major problem with arthritis, could be treated with regenerative medicine, according to A.J. Farshchian MD from the Center for Regenerative Medicine. Miami, Florida (PRWEB) July 06, 2012 Muscle atrophy a major problem with arthritis, could be treated with regenerative medicine, according to A.J. Farshchian MD from the Center for Regenerative Medicine. Muscle atrophy also known as Muscle wasting Is common in arthritis and is usually due to loss of muscle tissue which could...

2012-07-05 02:23:53

BLAINVILLE, QC, July 5, 2012 /PRNewswire/ - Medunik Canada, is an orphan drug company dedicated to helping Canadians with rare diseases access therapies currently unavailable in Canada. Medunik Canada is proud to announce that it has signed an exclusive distribution agreement with Orphan Europe Recordati Group. Under this agreement, Medunik Canada receives the exclusive Canadian rights to market and distribute four important therapies in the following medical conditions: (1) acute...


Latest Genetic disorders Reference Libraries

44_b4e6022f2dde476f8bd4cab961972a2d
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...

More Articles (1 articles) »