Latest Genetic disorders Stories

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...

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...

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...

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...

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. This gene find is...

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 culminate in...

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...

Lines in US registry will help studies on Huntington's disease, hemophilia & more ANN ARBOR, Mich., June 14, 2012 /PRNewswire-USNewswire/ -- Six new human embryonic stem cell lines derived at the University of Michigan have just been placed on the U.S. National Institutes of Health's registry, making the cells available for federally-funded research. U-M now has a total of eight cell lines on the registry, including five that carry genetic mutations for serious diseases such as...

Letter Signed by Nearly 120 Organizations, Latest PDUFA-Oriented Action HACKENSACK, N.J., June 13, 2012 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD), the nation's largest Duchenne muscular dystrophy (Duchenne) advocacy organization - co-led a letter to key lawmakers that was signed by 119 organizations and that urges Congress to include the strongest patient engagement and rare disease provisions within the final use fee legislation. (Logo:...

ROCKVILLE, Md., June 13, 2012 /PRNewswire/ -- This week's announcement by ABC News' Robin Roberts that she has been diagnosed with MDS (myelodysplastic syndrome) has drawn national attention to this bone marrow failure disorder. Since 1983, the Aplastic Anemia & MDS International Foundation (www.AAMDS.org) has provided education and support to patients with MDS. MDS is a group of rare disorders affecting the bone marrow. People with MDS have an abnormal number of red and white...