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Latest Genetic disorders Stories

2012-07-20 23:03:23

A bill to authorize the NIH to support the creation of up to 20 pediatric research consortia focused on diseases such as spinal muscular atrophy (SMA) was introduced in the U.S. House of Representatives. Alexandria, VA (PRWEB) July 20, 2012 A bill to authorize the National Institutes of Health (NIH) to support the creation of up to 20 pediatric research consortia focused on diseases such as spinal muscular atrophy (SMA) was introduced yesterday in the U.S. House of Representatives. The...

2012-07-19 14:21:31

HOUSTON, July 19, 2012 /PRNewswire-USNewswire/ -- Exactly one year after launching the Angolan Sickle Cell Initiative, Texas Children's Center for Global Health is proud to announce that more than 16,000 babies have been screened for this once-overlooked killer of children in Africa. (Photo: http://photos.prnewswire.com/prnh/20120719/DC43489) Encouraged by the First Lady of Angola, and aided by the vision and support of Mr. Ali Moshiri, president, Chevron Africa and Latin America...

2012-07-16 10:19:02

Disruption of cytoskeleton pathways contribute to ALS pathogenesis A new genetic mutation that causes familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder also known as Lou Gehrig's Disease, has been identified by a team of scientists led by researchers at the University of Massachusetts Medical School (UMMS). Mutations to the profilin (PFN1) gene, which is essential to the growth and development of nerve cell axons, is estimated to account for one to two percent of...

2012-07-12 23:01:25

Sophion and CreaCell announced today that the two companies successfully demonstrated the performances of HEK-hKir2.1 cells on QPatch HT. (PRWEB) July 12, 2012 Inward rectifier potassium channels of the Kir2 subfamily are important determinants of the electrical activity of cardiac cells, and mutations of the Kir2.1 channels are associated with familial atrial fibrillation, Andersen-Tawil syndrome and short-QT syndrome. Because human Kir2.1 is a relevant target in preclinical cardiac...

Mutations In Autism Gene Increases Risk In Boys
2012-07-12 17:40:48

Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD). Mutations in the AFF2 gene, and other genes like it on the X chromosome, may explain why autism spectrum disorders affect four times as many boys as girls. The mutations in AFF2 appeared in 2.5 percent (5 out of 202) boys with an ASD. Mutations in X chromosome genes only affect boys, who...

2012-07-12 06:24:51

DENVER, July 12, 2012 /PRNewswire/ -- Who: Mile High Down Syndrome Association (MHDSA), a Colorado non-profit organization, focused on raising awareness around Down syndrome and supporting families of children with Down syndrome with resources, tools and educational information. What: The Step Up for Down Syndrome annual...

2012-07-11 22:21:12

WAYNE, N.J., July 12, 2012 /PRNewswire/ -- Bayer HealthCare announced results from SPINART, a study designed to evaluate the effect of secondary prophylaxis with Kogenate® FS - antihemophilic factor (recombinant) on bleeding frequency and joint damage compared to on-demand treatment in adults and adolescents with severe hemophilia A. These data were presented as a late-breaker at the 50(th) annual World Federation of Hemophilia (WFH) World Congress, July 8-12, in Paris, France. In the...

2012-07-11 10:23:11

KING OF PRUSSIA, Pa., July 11, 2012 /PRNewswire/ -- Findings of a first-of-its-kind study of women with von Willebrand disease (VWD) show that current postpartum treatment strategies do not increase levels of von Willebrand factor (VWF) to normal range or even to the levels of women with milder, untreated VWD. VWF is a blood protein important for preventing postpartum hemorrhage. Results of this nationwide study are being presented at the World Federation of Hemophilia 2012...

2012-07-11 05:33:37

A new single-gene cause of chronic kidney disease has been discovered that implicates a disease mechanism not previously believed to be related to the disease, according to new research from the University of Michigan. The research was published July 8 in the journal Nature Genetics. “In developed countries, the frequency of chronic kidney disease is continually increasing for unknown reasons. The disease is a major health burden,” says Friedhelm Hildebrandt, M.D., the...

2012-07-09 22:20:38

WAYNE, N.J., July 10, 2012 /PRNewswire/ -- Bayer HealthCare today announced the 2012 recipients of the Bayer Hemophilia Awards Program (BHAP). This year, the company awards a total of approximately $2.3 million USD in funding to 15 recipients in nine countries. BHAP is the largest program of its kind in hemophilia, funding innovative research and educational initiatives around the world. As such, BHAP is part of Bayer's commitment to research, support and disease management in hemophilia....


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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