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Latest Rare diseases Stories

2014-05-20 16:24:13

Focused Rowing Efforts & New Film Support Crucial ALS Research CHONSHOHOKEN, Pa., May 20, 2014 /PRNewswire/ -- For the next six months, Philadelphia will play host to another revolution, when the city's rowers come out in force to benefit Project A.L.S. Led by Carol Kleiner, a Philadelphia area native who was diagnosed with ALS, also known as Lou Gehrig's disease, the newly formed Carol's Crew will raise awareness and significant support for stem cell research, drug screening, and...

2014-05-16 08:26:28

- Data Demonstrate Positive Trends in Lung Function and Pulmonary Exacerbations - SOUTH PLAINFIELD, N.J., May 16, 2014 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced that the results of a Phase 3 study of ataluren in patients with nonsense mutation cystic fibrosis (nmCF) were published in Lancet Respiratory Medicine. The results demonstrated positive trends in both the primary endpoint, lung function as measured by relative change in % predicted FEV(1) (forced...

2014-05-15 12:35:07

TORONTO, May 15, 2014 /CNW/ - The month of May is tuberous sclerosis complex (TSC) awareness month in Canada, and May 15(th) is TSC Global Awareness Day. During this time, the goal is to increase public awareness about this genetic disorder that causes tumours to form in vital organs, primarily in the brain, eyes, heart, kidneys, skin and lungs. It is also the leading genetic cause of both autism and epilepsy. 1 in 6000 children are born with TSC. Early detection and treatment is...

2014-05-15 08:33:43

Research initiative focused on developing improved treatments for tuberous sclerosis complex patients brings hope on TSC Awareness Day GRAND RAPIDS, Mich., May 15, 2014 /PRNewswire/ -- May 15(th) is Tuberous Sclerosis Complex Awareness Day, and in 2013 Van Andel Research Institute (VARI) launched the Pathway of Hope research initiative under the direction of Dr. Jeffrey MacKeigan, Associate Professor and Head of the Institute's Laboratory of Systems Biology. The initiative involves...

2014-05-14 00:21:38

SILVER SPRING, Md., May 14, 2014 /PRNewswire-USNewswire/ -- On May 15, the Tuberous Sclerosis Alliance (TS Alliance) will join tuberous sclerosis complex (TSC) organizations around the world to observe the third annual TSC Global Awareness Day. On this day, thousands of individuals and families affected by TSC will join together to increase public awareness of the rare disease and share their stories of hope for the future. This year's TSC Global Awareness Day will feature a social...

2014-05-12 12:30:47

$100,000 prize and access to additional expertise awarded to support "big data" genetic analysis to provide new clues to the higher incidence of ALS in veterans BRIDGEWATER, N.J., May 12, 2014 /PRNewswire/ -- Sanofi US announced the winner of its second Innovation Challenge: Collaborate Innovate. The winner, Veterans Advancing ALS/MND, is a partnership that comprises Innovative Solutions Consortium and Johns Hopkins University. In the spirit of collaboration, Sanofi's Partners in Patient...

2014-05-12 08:32:50

CLEVELAND, May 12, 2014 /PRNewswire-USNewswire/ -- Abeona Therapeutics, a start-up company created around intellectual property licensed from Nationwide Children's Hospital to develop treatments for Sanfilippo Syndrome Types A and B, has been granted Orphan Drug Designations for its lead investigational therapies by the U.S. Food and Drug Administration (FDA) Office of Orphan Products Development. Following the successful close of seed financing in late 2013, Abeona is raising funds...

2014-05-12 08:31:08

DUBLIN and SAN DIEGO, May 12, 2014 /PRNewswire/ -- - Acquisition of Lumena Pharmaceuticals, a biopharmaceutical company with late stage rare disease pipeline assets - Adds to Shire's rare diseases portfolio and leverages this expertise, and is a perfect combination with Shire's already strong Gastrointestinal (GI) presence - Adds LUM001 in Phase 2 development for four rare and devastating hepatic diseases, two...

2014-05-08 12:29:19

Papa John's Founder, Chairman and CEO John Schnatter Agrees to Serve as National Walk Ambassador WASHINGTON, May 8, 2014 /PRNewswire-USNewswire/ -- Papa John's International, based in Louisville, Kentucky, is helping The ALS Association raise awareness of amyotrophic lateral sclerosis (ALS) and boost participation the Walk to Defeat ALS®, which brings hope to those living with ALS and is an opportunity for individuals with the disease and their families and friends to spend a day...

2014-05-07 23:01:17

With expanded screening test, 50 percent of Ashkenazi Jewish individuals are expected to be identified as carriers of at least one of the 38 diseases New York, NY (PRWEB) May 07, 2014 The Icahn School of Medicine at Mount Sinai today announced the launch of its Expanded Carrier Screening Panel for people of Ashkenazi Jewish descent. This test increases the number of diseases covered from 20 to 38, giving Ashkenazi Jewish individuals a 1 in 2 chance of being a carrier for at least one of...


Word of the Day
malpais
  • The ragged surface of a lava-flow.
'Malpais' translates from Spanish as 'bad land.'