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Ionis Pharmaceuticals and its affiliate Akcea Therapeutics recently announced an exclusive worldwide license to commercialize inotersen and a follow-up therapy, AKCEA-TTR-LRx, formerly known as IONIS-TTR-LRx. Inotersen is a therapy candidate being evaluated for the treatment of familial amyloid polyneuropathy (FAP). In May 2017, Ionis announced positive results from…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

Researchers suggest that guidelines and standardized protocols are needed to evaluate the autonomic nervous system — which regulates certain body processes such as such as breathing, heartbeat, and digestion — in the development of familial amyloid polyneuropathy (FAP). FAP, also known as hereditary transthyretin amyloidosis (hATTR), is a progressive disorder…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

Researchers have found that imaging contrast agent MIBG can help detect early nerve cell damage affecting the heart before serious tissue damage and cardiac impairment in patients with familial amyloid polyneuropathy (FAP). The agent may have early diagnostic value for these patients. This finding was reported in a study…

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…

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…

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…

Shire, Microsoft and Rare Diseases Europe (EURORDIS) have established a partnership to end the diagnostic challenge endured by patients with rare diseases like familial amyloid polyneuropathy (FAP). According to the newly established Global Commission to End the Diagnostic Odyssey for Children, it takes an average of…