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Latest Genetic disorders Stories

2012-07-26 01:01:00

Complex, multi-system diseases like myotonic dystrophy — the most common adult form of muscular dystrophy — require physicians and patients to identify which symptoms impact quality of life and, consequently, what treatments should take priority. However, a new study out this month in the journal Neurology reveals that there is often a disconnect between the two groups over which symptoms are more important, a phenomenon that not only impacts care but also the direction of...

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...

2012-07-16 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...


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...

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Word of the Day
drawcansir
  • A blustering, bullying fellow; a pot-valiant braggart; a bully.
This word is named for Draw-Can-Sir, a character in George Villiers' 17th century play The Rehearsal.
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