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Latest Rare diseases Stories

2014-10-22 08:33:04

HAMILTON, N.J., Oct. 22, 2014 /PRNewswire/ -- Medical Diagnostic Laboratories, L.L.C., (MDL), a CLIA-certified, CAP-accredited laboratory which specializes in high complexity, state-of-the-art, automated DNA-based molecular analyses, announces that it is now offering new Cystic Fibrosis Testing which utilizes cutting edge technology, including next- generation DNA sequencing platforms. Cystic fibrosis (CF), or mucoviscidosis, is a genetically inherited multisystem disorder that...

2014-10-22 08:32:01

Architect of Novel Translational Rare Disease Programs at NIH Adds Depth to Existing Team of Rare Disease Experts SAN DIEGO and HONG KONG, Oct. 22, 2014 /PRNewswire/ -- aTyr Pharma ("aTyr"), an innovative rare disease therapeutics enterprise, announced today that rare disease expert John C. McKew, Ph.D., joined the company as vice president, research. Dr. McKew brings more than two decades of expertise in translational research, including key leadership positions at the National...

2014-10-21 16:28:41

First-Ever Product Submission for LAL Deficiency LEXINGTON, Mass., Oct. 21, 2014 /PRNewswire/ -- Synageva BioPharma Corp. (Synageva) (NASDAQ: GEVA), a biopharmaceutical company developing therapeutic products for rare disorders, announced today the start of a rolling submission of a Biologics License Application (BLA) to the U.S. Food and Drug Administration (FDA) for sebelipase alfa as a treatment for patients with lysosomal acid lipase deficiency (LAL Deficiency), a rare genetic...

2014-10-21 12:32:00

NEW YORK, Oct. 21, 2014 /PRNewswire/ -- Frustrated with the slow pace of implementation of Newborn Screening for Severe Combined Immune Deficiency (SCID), Vicki and Fred Modell renewed a multi-million dollar commitment to screen every baby born in every state for this life threatening condition, often referred to as "Bubble Boy" disease. http://photos.prnewswire.com/prnvar/20141020/153192 Four million newborns in the United States are routinely screened annually for a variety of...

2014-10-21 08:34:45

TAIPEI, Oct. 21, 2014 /PRNewswire/ -- TWi Pharmaceuticals, Inc. today announced that its fully owned subsidiary, TWi Biotechnology, Inc., has received the designation of Orphan Drug by US FDA for using AC-201 to treat epidermolysis bullosa (EB). TWi Biotechnology has developed proprietary formulations to be used topically for the indication of EB. "We are very pleased with the approval of orphan drug designation for treating epidermolysis bullosa. It fulfills the mission of our new...

2014-10-21 08:33:47

- Label expansion to broaden patient base who may benefit from nonsurgical collagenase therapy LYNBROOK, N.Y., Oct. 21, 2014 /PRNewswire/ -- BioSpecifics Technologies Corp. (NASDAQ: BSTC), a biopharmaceutical company developing first in class collagenase-based products marketed as XIAFLEX(®) (collagenase clostridium histolyticum or CCH) in the U.S. and XIAPEX(®) in the EU, today announced that the U.S. Food and Drug Administration (FDA) has approved the supplemental Biologics...

2014-10-20 20:26:38

Estimated 35-40 Percent of Surgical Procedures to Treat DC Have Been Performed on Multiple Joints CHESTERBROOK, Pa., Oct. 20, 2014 /PRNewswire/ -- Auxilium Pharmaceuticals, Inc. (NASDAQ: AUXL), a specialty biopharmaceutical company, today announced that the U.S. Food and Drug Administration (FDA) has approved a supplemental Biologics Application (sBLA) for XIAFLEX(® )(collagenase clostridium histolyticum or CCH) for the treatment of up to two Dupuytren's contracture (DC) joints in the same...

2014-10-19 16:21:24

Largest retrospective study of its kind reveals that nearly 60 percent of patients with both uveitis and MS are diagnosed with each within a 5-year span CHICAGO, Oct. 19, 2014 /PRNewswire-USNewswire/ -- The results of the largest retrospective study of multiple sclerosis (MS) in uveitis patients has revealed that nearly 60 percent of patients with both diseases were diagnosed with each within a five-year span. The study is being presented today at AAO 2014, the 118(th) annual...

2014-10-15 12:32:27

HARRISBURG, Pa., Oct. 15, 2014 /PRNewswire-USNewswire/ -- Governor Tom Corbett signed House Bill 1654 into law at an event in the Capitol today, expanding newborn screening requirements to assist in early detection measures that will help to improve care for children diagnosed with certain rare disorders. Corbett was joined by prime sponsor of the bill, Rep. Angel Cruz (D-Philadelphia); other members of the General Assembly; Secretary of Health Michael Wolf; and Physician General...

2014-10-14 12:30:11

Proven population-scale platform delivers best results in rare disease and cancer clinical interpretation, as well as secondary analysis and variant refinement CAMBRIDGE, Mass., Oct. 14, 2014 /PRNewswire/ -- NextCODE Health, which enables clinicians and scientists to use the full power of the whole genome in real time, today announced that Genomics England (GeL) has invited NextCODE to take part in the analysis of forthcoming whole-genome sequence data across GeL's focus areas in...


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'.