News

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

A test that measures cells’ sulfamidase enzyme activity could help doctors predict the severity of Sanfilippo type A, a study reports. It could also lead to Sanfilippo being added to the list of diseases that newborns are screened for. And it could prove essential to the design…

Researchers have developed and characterized the first fruit fly model for Sanfilippo syndrome to help advance knowledge about the cellular and molecular mechanisms that drive symptoms of the condition. The study “Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA” was published in the journal…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

The first fly model of Sanfilippo syndrome type A has been developed and characterized, providing new data on genes involved in disease development. The study, “Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA,” appeared in the journal Experimental Neurology. Sanfilippo…

Shire, Microsoft and Rare Diseases Europe have formed an alliance to try to accelerate the time it takes to diagnose children with rare diseases such as Sanfilippo syndrome. Meanwhile, Shire said it is holding or taking part in 40 events on Rare Disease Day (Feb. 28) to raise…

In recognition of Rare Disease Day 2018, BioNews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…