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Latest Rare diseases Stories

2014-07-07 16:24:11

NEW YORK, July 7, 2014 /PRNewswire/ -- Lysosomal storage disorders are a group of approximately 50 rare inherited metabolic disorders resulting from defects in lysosomal function. These severe, chronic genetic diseases have unmet medical needs, and include Fabry disease, Gaucher disease, Parkinson's disease, Pompe disease, and Tay-Sachs disease. The market for current drug therapies to address these disorders is estimated to exceed $3 billion. Amicus Therapeutics, Inc. (NASDAQ:...

2014-07-07 08:27:54

Approval delivers first pharmaceutical therapy for children and adults with ultra-rare, life-limiting disorder TORONTO, July 7, 2014 /CNW/ - BioMarin Pharmaceutical Inc. (NASDAQ:BMRN) announced today that Health Canada has approved VIMIZIM(TM)(elosulfase alfa) for long-term enzyme replacement therapy in patients with a confirmed diagnosis of mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A syndrome. The approval makes VIMIZIM the first and only pharmaceutical...

2014-06-30 16:26:45

Phase 3 Study Meets Primary Endpoint and Six Secondary Endpoints Across Multiple Disease-Related Abnormalities LEXINGTON, Mass., June 30, 2014 /PRNewswire/ -- Synageva BioPharma Corp. (Synageva) (NASDAQ: GEVA), a biopharmaceutical company developing therapeutic products for rare diseases, announced today that the global, randomized, double-blind, placebo-controlled Phase 3 ARISE trial of sebelipase alfa in 66 children and adults with lysosomal acid lipase deficiency (LAL...

2014-06-29 12:21:03

WASHINGTON, June 29, 2014 /PRNewswire-USNewswire/ -- In work supported by The ALS Association, researchers have shown that increasing the clearance of misfolded protein from neurons improves their survival. The study was published today in the journal Nature Chemical Biology. http://photos.prnewswire.com/prnvar/20131211/MM32178LOGO ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig's disease, is a progressive neurodegenerative disease that affects motor neurons (nerve...

2014-06-25 16:26:44

LYNBROOK, N.Y., June 25, 2014 /PRNewswire/ -- BioSpecifics Technologies Corp. (NASDAQ: BSTC), a biopharmaceutical company developing first in class collagenase-based products marketed as XIAFLEX(®) in the U.S. and XIAPEX(®) in the EU, announced today that Swedish Orphan Biovitrum AB (Sobi) has filed for an extension of the label for XIAPEX (the EU trade name for collagenase clostridium histolyticum or CCH) with the European Medicines Agency (EMA) to include the indication of...

2014-06-24 12:27:50

ST. PETERSBURG, Fla., June 24, 2014 /PRNewswire-USNewswire/ -- InformedDNA announced today a strategic new collaboration with Edimer Pharmaceuticals to address a critical research need for patients with X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare genetic disorder. The partnership will allow InformedDNA to identify patients with XLHED and support Edimer's clinical programs. Under the agreement, InformedDNA has developed a genetic counseling program for patients and...

2014-06-24 10:57:10

University of Oxford Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, say Oxford University researchers. The researchers, funded in part by the Medical Research Council (MRC), have come up with a computer programme that recognises facial features in photographs; looks for similarities with facial structures for various conditions, such as Down's syndrome, Angelman syndrome, or Progeria; and returns possible matches...

2014-06-23 08:27:56

DUBLIN, June 23, 2014 /PRNewswire/ -- NOT FOR RELEASE, PUBLICATION OR DISTRIBUTION (IN WHOLE OR IN PART) IN, INTO OR FROM ANY JURISDICTION WHERE TO DO SO WOULD CONSTITUTE A VIOLATION OF THE RELEVANT LAWS OF SUCH JURISDICTION. Presentation for analysts and investors to be held at 13:00 British Summer Time today The management of Shire plc ("Shire" or the "Company") (LSE: SHP, NASDAQ: SHPG) has transformed the Company over...

2014-06-17 12:26:05

Para-equestrian champion Rebecca Hart proves that having a disability doesn't derail your dreams. UNIONVILLE, Pa., June 17, 2014 /PRNewswire/ -- Born with a very rare genetic condition called hereditary spastic paraplegia (HSP) that keeps her from walking across a room unaided, six-time U.S. National Champion para-equestrian rider Rebecca Hart has set her sights on winning Gold at the 2014 AllTech FEI World Equestrian Games 2014 (WEG) in Normandy in August. After winning her sixth...

2014-06-11 12:28:34

Uniquely Positioned to Provide Big Data Analytics for Over 6,800 Rare Diseases BRANFORD, Conn., June 11, 2014 /PRNewswire/ -- BioXcel Corporation, announced today its first-in-class cloud based Pharma big-data analytics platform, PharmGPS(TM) now has a dedicated Orphan Disease suite to aid in the discovery, development, licensing and commercialization of drugs for the approximately 7,000 Rare and Ultra Rare Diseases. Partners will benefit from real-time multi-factorial analytics to...


Word of the Day
abrosia
  • Wasting away as a result of abstinence from food.
The word 'abrosia' comes from a Greek roots meaning 'not' and 'eating'.