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London scientist hopes to improve diagnosis for Jeune syndrome

A London scientist is hoping a new study funded by children's charity Action Medical Research, will help to improve diagnosis and work towards new treatments for a rare, incurable genetic disorder called Jeune syndrome.

7 Sep 2011

Robert Gordon University scientists to develop new treatment for cystinosis

A team of researchers at Robert Gordon University has secured a six figure sum from Sparks, a leading children’s medical research charity, to develop a revolutionary treatment for a rare genetic disorder.

6 Sep 2011

Tick-borne disease in US blood supply

A tick-borne infection known as Babesiosis, which can cause severe disease and even death, is becoming a growing threat to the U.S. blood supply, government researchers said on Monday.

6 Sep 2011

First Edition: September 6, 2011

Today's early morning highlights from the major news organizations include reports from a GOP presidential candidate forum in South Carolina and analysis of what to expect as Congress returns to Washington.

6 Sep 2011

PTC restructures collaboration with Genzyme

PTC Therapeutics, Inc. and Genzyme, a Sanofi company, announced today the restructuring of their collaboration. Under the original agreement, PTC held commercial rights for the U.S. and Canada and Genzyme held commercial rights in all other countries.

2 Sep 2011

Discovery in rare disease may shed light on common causes of blindness

In a rare eye disease, the retina degenerates because light-receiving cells fail to regenerate, research led by a student at Case Western Reserve University School of Medicine shows.

2 Sep 2011

One third of patients with unexplained body malodor production test positive for TMAU

Scientists from the Monell Center report that approximately one third of patients with unexplained body malodor production test positive for the metabolic disorder trimethylaminuria.

2 Sep 2011

Insight into molecular basis of Enhanced S-Cone Syndrome

A new research report published in The FASEB Journal will help ophthalmologists and scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision called Enhanced S-Cone Syndrome or Goldman-Favre Syndrome.

2 Sep 2011

FDA may be allowed an extra 2 months to review new drugs

The deadline for approval or rejection of new drugs by the Food and Drug Administration (FDA) could be extended by two months say U.S. regulators and drug industry officials.

2 Sep 2011

Mayo Clinic identifies new benefit of social media and online networks for rare diseases research

Mayo Clinic has identified a new benefit of social media and online networking: a novel way to study rare diseases. Through patient-run websites dedicated to heart conditions and women's heart health, a team of cardiologists led by Sharonne Hayes, M.D., is reaching out to survivors of spontaneous coronary artery dissection, also known as SCAD, a poorly understood heart condition that affects just a few thousand Americans every year.

31 Aug 2011

Shire receives FDA marketing approval for FIRAZYR to treat acute attacks of HAE

Shire plc, the global specialty biopharmaceutical company, today announced that the U.S. Food and Drug Administration (FDA) has granted marketing approval for FIRAZYR for treatment of acute attacks of hereditary angioedema (HAE) in adults 18 years of age and older.

26 Aug 2011

World's top genetic scientists to present latest research findings at ICHG/ASHG 2011 Meeting

The world's top scientists and clinicians in the human genetics field will gather to present their latest research findings at the 12th International Congress of Human Genetics (ICHG) / 61st Annual Meeting of the American Society of Human Genetics (ASHG), which will be held on October 11-15, 2011, in Montreal (Quebec), Canada, at the Montreal Convention Center.

17 Aug 2011

Combination immunotherapy more effective for patients with Sezary Syndrome

A three-pronged immunotherapy approach nearly doubles five-year survival among patients with rare leukemic form of cutaneous T-cell lymphoma, reports a new study by dermatologists from the Abramson Cancer Center and Perelman School of Medicine at the University of Pennsylvania.

16 Aug 2011

First anti-venom for scorpion bites approved by FDA

The U.S. Food and Drug Administration (FDA) has approved a Mexican-made drug that is the first specific treatment for stings by the most common type of scorpion in the United States. The new preparation called Anascorp is found to have few allergic reactions and was approved after a series of clinical trials by the University of Arizona.

5 Aug 2011

FDA approves first scorpion antivenom

The U.S. Food and Drug Administration today approved Anascorp-, an antivenom produced in Mexico and tested in clinical trials conducted through the University of Arizona, for use in treating patients suffering the effects of scorpion sting.

5 Aug 2011

Instituto Bioclon receives FDA approval for Anascorp to treat Centruroides scorpion sting

The U.S. Food and Drug Administration today approved Anascorp, the first specific treatment for a scorpion sting by Centruroides scorpions in the United States.

4 Aug 2011

Merrimack receives FDA orphan drug status for MM-398 to treat pancreatic cancer

Merrimack Pharmaceuticals, Inc. announced today that the U.S. Food and Drug Administration (FDA) has granted MM-398 orphan drug status for the treatment of pancreatic cancer.

2 Aug 2011

PPTA applauds introduction of 'Preserving Access to Orphan Drugs Act'

The Plasma Protein Therapeutics Association (PPTA) applauds the introduction of bipartisan legislation, the Preserving Access to Orphan Drugs Act (H.R. 2672) and (S. 1423), which will safeguard the development of drugs and therapies that treat patients with rare diseases by eliminating barriers to innovation.

30 Jul 2011

Viewpoints: Sanders on angry Americans; Sebelius on Md. exchanges; Samuelson: 'it's the elderly, stupid'

If the Republicans have their way, the entire burden of deficit reduction will be placed on the elderly, the sick, children and working families. In the midst of a horrendous recession that is already causing severe pain for average Americans, this approach is morally grotesque. ... The Reid plan is bad. The constantly shifting plan by House Speaker John Boehner is much worse. ... Those cuts would mean drastic reductions in Social Security, Medicare and Medicaid.

30 Jul 2011

EGT transfers clinical grade lentiviral vector to MSKCC

Errant Gene Therapeutics, LLC, a pioneering boutique drug development firm specializing in Rare Diseases, announced the transfer of its clinical grade lentiviral vector, TNS 9.55.3, to Memorial Sloan Kettering Cancer Center.

29 Jul 2011