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Last updated on April 23, 2014 at 21:24 EDT

Latest Genetic disorder Stories

2013-07-15 13:34:54

A type of genetic abnormality linked to cancer is more common in people with type 2 diabetes than the rest of the population, a new study has found. People with type 2 diabetes are already known to have a higher risk of cancers, especially blood cancers like lymphoma and leukaemia. The new study, led by scientists at Imperial College London and CNRS in France, suggests that mutations called clonal mosaic events (CMEs) may partly explain why this is. CMEs are defects that result in some...

2013-06-27 04:20:43

Dr. Stephen Groft, National Institutes of Health, Josh Sommers, Chordoma Foundation and Six Year Old Dylan Siegel, Author of "Chocolate Bar" Book, To Be Honored at Event ALISO VIEJO, Calif., June 27, 2013 /PRNewswire-USNewswire/ -- Global Genes | RARE Project today announced that Cimorelli, an all-girl group popularized on YouTube and signed to Universal Music's Island label, will perform live at the 2(nd) Annual RARE Tribute to Champions of Hope(TM) benefit on Saturday, September...

2013-06-26 12:53:53

A drug developed to treat genetic diseases such as Duchenne muscular dystrophy and cystic fibrosis may need a radical rethink. In a new study published on 25 June in the open access journal PLOS Biology, researchers question the mechanistic basis of the drug called PTC124 (also known as Ataluren), casting doubt as to whether it has the molecular effects that are claimed for it. This may have implications for its effectiveness in treating genetic diseases. An estimated 10% of all human...

2013-06-21 12:24:18

HACKENSACK, N.J., June 21, 2013 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD) - the nation's leading voice for patients and families impacted by Duchenne muscular dystrophy (Duchenne) - is urging the Secretary of Health and Human Services to update the nation's organ transplantation polices to ensure pediatric patients with rare diseases are not negatively impacted by outdated regulations. In the letter, PPMD urged HHS Secretary Kathleen Sebelius to initiate a...

Genome Sequencing Reveals Mutation Causing MDP Syndrome
2013-06-17 05:20:29

Lee Rannals for redOrbit.com - Your Universe Online An international team of scientists writing in the journal Nature Genetics has helped to identify a single genetic mutation in National Paracycling Champion Tom Staniford that has led to his extremely rare condition. Staniford suffers a rare condition known as MDP Syndrome in which he is unable to store fat under his skin, despite having type 2 diabetes. Scientists had been baffled by Tom's condition, but advances in genome sequencing...

2013-06-06 18:27:15

Genetic mutation of a testis stem cell actually gives the disease an edge, making older fathers more likely to pass it along to their children Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan Syndrome are so common: a mutation that causes the disease disproportionately increases a normal father´s production of sperm carrying the disease trait. When this Noonan syndrome mutation arises in a normal sperm stem cell it makes that cell more...

Promise In Duchenne Muscular Dystrophy Shown With Genetic Editing
2013-06-05 08:48:09

Duke University Using a novel genetic 'editing' technique, Duke University biomedical engineers have been able to repair a defect responsible for one of the most common inherited disorders, Duchenne muscular dystrophy, in cell samples from Duchenne patients. Instead of the common gene therapy approach of adding new genetic material to "override" the faulty gene, the Duke scientists have developed a way to change the existing mutated gene responsible for the disorder into a normally...

2013-04-29 12:28:51

HACKENSACK, N.J., April 29, 2013 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD), the leading nonprofit in the United States focused entirely on Duchenne muscular dystrophy (Duchenne), launched the Duchenne Central mobile app, in collaboration with Siren Interactive, a digital relationship marketing agency focused on rare disorder therapies. The app, which is available as a free download for Apple and Android devices, is an easy-to-use and on-the-go tool to locate clinical...

2013-04-23 12:33:10

Makes Recommendations to Speed Responsible Access to New Therapies for Duchenne Muscular Dystrophy, Other Rare Neurological Disorders HACKENSACK, N.J., April 23, 2013 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD) has released Putting Patients First, a white paper outlining recommendations to speed responsible access to new therapies for Duchenne muscular dystrophy (Duchenne) and other, rare, serious, and life-threatening neurological disorders. PPMD developed...

2013-03-18 12:12:49

Tool lets any clinician contribute information about patients for analysis A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene. As described in an article in the May issue of Human Mutation, the database, known as PhenoDB, enables any clinician to document cases of unusual genetic diseases for analysis by researchers at the Johns Hopkins University School of Medicine or the Baylor...