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Latest Genetic disorders Stories

2012-05-09 14:47:53

This family comprises a cluster of six genes that may be altered in neurological conditions, such as Parkinson´s and Charcot-Marie-Tooth disease A team headed by Eduardo Soriano at the Institute for Research in Biomedicine (IRB Barcelona) has published a study in Nature Communications describing a new family of six genes whose function regulates the movement and position of mitochondria in neurons. Many neurological conditions, including Parkinson´s and various types of...

2012-05-08 15:27:53

Gene therapy strategies to prevent and treat inherited diseases of the retina that can cause blindness have progressed rapidly. Positive results in animal models of human retinal disease continue to emerge, as reported in several articles published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The articles are available free on the Human Gene Therapy website. After 20 years of promising research, testing in animal models, and initial clinical trial...

2012-05-08 09:20:27

Mayo Clinic and University of Oregon researchers have confirmed that a genetic factor called a repeating trinucleotide is a strong predictor of an individual's risk of developing the eye condition Fuchs' dystrophy. The findings were being presented today at the annual conference of the Association for Research in Vision and Ophthalmology in Orlando, Fla. Fuchs' dystrophy is an eye condition that occurs when the cells at the back of the cornea deteriorate, causing fluid buildup resulting in...

2012-05-08 02:29:11

Burger King, CITGO, Jiffy Lube, Lowe's, 7-Eleven, Valero Corner Stores, Applebee's, Kroger, Pizza Hut and Others Help Elevate Program TUCSON, Ariz., May 8, 2012 /PRNewswire-USNewswire/ -- The Muscular Dystrophy Association is proud to announce that the annual Shamrocks Against Dystrophy campaign has raised an estimated $23 million with the help of campaign partners and their customers nationwide. (Logo: http://photos.prnewswire.com/prnh/20120424/DC93207LOGO) The MDA Shamrocks...

2012-05-07 20:22:05

The deletion of part of a gene that plays a role in the synthesis of carnitine — an amino acid derivative that helps the body use fat for energy — may play a role in milder forms of autism, said a group of researchers led by those at Baylor College of Medicine (http://www.bcm.edu) and Texas Children's Hospital (http://www.texaschildrens.org). "This is a novel inborn error of metabolism," said Dr. Arthur Beaudet (http://www.bcm.edu/genetics/index.cfm?pmid=10579), chair of...

2012-05-07 02:33:09

SAN JOSE, Calif., May 7, 2012 /PRNewswire/ -- Ariosa Diagnostics, a molecular diagnostics company, today announced that the Harmony(TM) Prenatal Test will be available in the United States and Canada through Laboratory Corporation of America® Holdings (LabCorp®) and Integrated Genetics, a member of LabCorp's Specialty Testing Group. Harmony represents an innovative non-invasive test for detection of common fetal trisomies utilizing a directed approach to analyze cell-free DNA (cfDNA)...

2012-05-07 02:33:03

NEW YORK, May 7, 2012 /PRNewswire/ -- Physicians from 17 Middle East countries will convene next month for the first Middle East Workshop on Primary Immunodeficiencies (PI). The three day meeting is being organized by the Jeffrey Modell Foundation (JMF), a global organization dedicated to PI research, physician education, patient support, public awareness, advocacy and newborn screening. There are 493 referral physicians at 194 diagnostic and research centers in the Jeffrey Modell Centers...

2012-05-06 22:20:41

TUCSON, Ariz., May 7, 2012 /PRNewswire-USNewswire/ -- The Muscular Dystrophy Association announced today that an MDA-supported research team in Italy and Japan has identified a promising new target at which to aim experimental therapies to treat facioscapulohumeral muscular dystrophy (FSHD). (Logo: http://photos.prnewswire.com/prnh/20120424/DC93207LOGO) "This is an exciting new development in FSHD," said MDA Vice President of Research Sanjay Bidichandani. "We're possibly a step closer in...

2012-05-05 23:00:14

Research Down Syndrome provides an update on its charity racing program and lists upcoming events. Chicago, IL (PRWEB) May 05, 2012 The Research Down Syndrome Foundation´s RDS Runners program shares its upcoming events schedule with racers interested in having their miles support Down syndrome research. The program has participated this year in multiple races across the country, from half marathons in New York City, Washington, DC and Houston to shorter races in the Midwest. The RDS...

2012-05-04 23:02:57

The breakthrough genetic test designed to meet FAA and US Air Force requirements is set for release at the Aerospace Medical Association in May. Albuquerque, NM (PRWEB) May 04, 2012 Genevolve Vision Diagnostics is launching its military grade genetic test for all major forms of congenital color blindness at the Aerospace Medical Association annual event May 13th-15th in Atlanta, Georgia. It is the first totally objective color vision test that can consistently separate colorblind...


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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