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Last updated on April 20, 2014 at 8:28 EDT

Latest Medical genetics Stories

2013-06-17 12:26:33

The annual telethon will air in prime-time, Labor Day weekend, Sunday, Sept. 1 TUCSON, Ariz., June 17, 2013 /PRNewswire-USNewswire/ -- The Muscular Dystrophy Association's nationally broadcast telethon, one of America's longest-standing and beloved fundraising and entertainment events, will return this Labor Day weekend with a new broadcast home: the ABC Television Network. (Logo: http://photos.prnewswire.com/prnh/20120424/DC93207LOGO) The network has signed on to air the two-hour...

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...

2013-06-13 16:26:42

Statement from InformedDNA Chief Executive Officer, David P. Nixon ST. PETERSBURG, Fla., June 13, 2013 /PRNewswire-USNewswire/ -- "Today's Supreme Court ruling is an important win for patients everywhere because this decision supports patient choice. This ruling opens the door for additional companies to provide these services. Ultimately, more patients will have timely, affordable access to these important tests, when they are needed. "InformedDNA believes that an equally...

2013-06-13 16:25:54

BETHESDA, Md., June 13, 2013 /PRNewswire-USNewswire/ -- Today, The Supreme Court of the United States (SCOTUS), in a unanimous decision, held that natural isolated DNA is not patentable. This is a thrilling victory for patients and ACMG is proud to have been a plaintiff on this important case. "We hold that a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated," Justice Clarence Thomas said. As background, with breast cancer...

2013-06-13 10:02:38

Engineered virus will improve gene therapy for blinding eye diseases Researchers at the University of California, Berkeley, have developed an easier and more effective method for inserting genes into eye cells that could greatly expand gene therapy to help restore sight to patients with blinding diseases ranging from inherited defects like retinitis pigmentosa to degenerative illnesses of old age, such as macular degeneration. Unlike current treatments, the new procedure — which...

2013-06-12 08:29:16

HELSINKI, June 12, 2013 /PRNewswire/ -- Blueprint Genetics has launched a new genetic testing technology for professional use in hospitals. The gene sequencing technology is based on Stanford University research and can effectively analyse rare hereditary human diseases. The company started its operations in 2012 in Helsinki. The tests of Blueprint Genetics enable efficient diagnosis of difficult hereditary diseases. Today there are almost 4000 recognized diseases with a...

2013-06-06 23:37:20

Biolog, Inc., creator of powerful cell analysis technologies for biomedical research and development, announced today a breakthrough in autism research made by using its advanced Phenotype MicroArray (PM) cell scanning technology. Hayward, CA (PRWEB) June 05, 2013 Discovery Demonstrates Advantage of Metabolic over Genetic Screening Biolog, Inc., creator of powerful cell analysis technologies for biomedical research and development, announced today a breakthrough in autism research made by...

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...

2013-05-30 08:28:24

SAN DIEGO and ST OUEN L'AUMONE, France, May 30, 2013 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative genetic analysis solutions, today announced that it, along with its wholly owned subsidiary, Sequenom Center for Molecular Medicine (Sequenom CMM), has entered into technology licensing and marketing agreements with Laboratoire Cerba in France for noninvasive prenatal aneuploidy testing. These agreements will expand access to Sequenom CMM's...

2013-05-28 21:28:40

A large scientific study has discovered new genes causing severe seizure disorders that begin in babies and early childhood. The finding will lead to new tests to diagnose these conditions and promises to lead to improved outcomes. Epileptic encephalopathies are severe seizure disorders occurring in infants and children. The seizures are accompanied by slow development and intellectual problems. Pediatric neurologist and researcher Professor Ingrid Scheffer from the University of...