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Latest Genetic disorders Stories

2012-06-21 02:21:23

Single treatment produces long-term improvement in animal models With a single drug treatment, researchers at the Ludwig Institute for Cancer Research at the University of California, San Diego School of Medicine can silence the mutated gene responsible for Huntington's disease, slowing and partially reversing progression of the fatal neurodegenerative disorder in animal models. Researchers suggest the drug therapy, tested in mouse and non-human primate models, could produce sustained...

2012-06-21 02:19:04

A new gene-silencing strategy can reverse core symptoms associated with Huntington's disease, according to a preclinical study published by Cell Press in the June 21st issue of the journal Neuron. The short-term therapy produced sustained benefits in both mouse and primate animal models of this neurodegenerative disorder, which currently lacks an effective treatment. "Our approach is feasible for development now into a therapy for Huntington's disease in man," says senior study author Don...

2012-06-20 14:21:09

Legislation Includes Measures to Increase Patient and Expert Participation in FDA Review of Rare Disease Medicines BETHESDA, Md., June 20, 2012 /PRNewswire-USNewswire/ -- The Cystic Fibrosis Foundation issued the following statement in response to passage of legislation today in the House of Representatives to expand consultation between the Food and Drug Administration (FDA) and external rare disease experts and patient advocates during the FDA drug approval process. The bill is...

2012-06-20 19:10:00

Regenerative Medicine Institute research sheds new light on cell death in a common, lethal genetic disease in children, suggesting paths for potential treatment Cedars-Sinai's Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers. The study, published in the June 19 online...

2012-06-20 10:23:04

HACKENSACK, N.J., June 20, 2012 /PRNewswire-USNewswire/ -- AVI BioPharma is teaming up with Parent Project Muscular Dystrophy (PPMD)'s endurance program, Run For Our Sons, to participate in the Rock 'n' Roll Seattle Marathon & Half Marathon on June 23, 2012. The goal is to raise money and awareness to help end Duchenne muscular dystrophy (Duchenne), the most common form of muscular dystrophy. (Logo: http://photos.prnewswire.com/prnh/20100119/DC39975LOGO) AVI and PPMD have a long...

2012-06-19 11:23:40

In Huntington's disease, abnormally long strands of glutamine in the huntingtin (Htt) protein, called polyglutamines, cause subtle changes in cellular functions that lead to neurodegeneration and death. Studies have shown that the activation of the heat shock response, a cellular reaction to stress, doesn't work properly in Huntington's disease. In their research to understand the effects of mutant Htt on the master regulator of the heat shock response, HSF1, researchers have discovered that...

2012-06-19 11:10:05

A new study shows that the compound Coenzyme Q10 (CoQ) reduces oxidative damage, a key finding that hints at its potential to slow the progression of Huntington disease. The discovery, which appears in the inaugural issue of the Journal of Huntington's Disease, also points to a new biomarker that could be used to screen experimental treatments for this and other neurological disorders. "This study supports the hypothesis that CoQ exerts antioxidant effects in patients with Huntington's...

2012-06-18 22:04:28

A novel candidate gene in human early-onset degenerative ataxias Researchers at the University of Helsinki and the Folkhälsan Research Center, Finland, have identified the genetic cause of early-onset progressive cerebellar degeneration the Finnish Hound dog breed. The study, led by Professor Hannes Lohi, revealed a new disease mechanism in cerebellar degeneration. A mutation was identified in the SEL1L gene, which has no previous link to inherited cerebellar ataxias....

2012-06-15 10:13:25

The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene — and its associated health risks — may be more common than previously believed. Writing this month (June 2012) in the American Journal of Medical Genetics, a team of Wisconsin researchers reports that the cascade of genetic amino acid repeats, which accumulate over generations and...

2012-06-14 22:20:43

AMSTERDAM, June 15, 2012 /PRNewswire/ -- "There is a large potential opportunity for saving lives by early identification of cardiac iron loading in Thalassemia patients", declares Professor John-Paul Carpenter of the Royal Brompton CMR Unit in London at the 17th Congress of the European Hematology Association in Amsterdam. Thalassemia major (TM) is a substantial health issue, with over 25,000 new transfusion-dependent children identified each year around the world. In...


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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