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,…
The European Medicines Agency (EMA) has signaled that it is ready to begin reviewing Emmaus Life Sciences’ Xyndari as a possible treatment for sickle cell disease (SCD). The signal was the agency’s validation of the company’s marketing authorization application (MAA) for Xyndari. Xyndari increases the amount of free glutamine in the…
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…
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…
A gene editing technology called CRISPR/Cas9 repaired 20 to 40 percent of stem and progenitor cells obtained from sickle cell disease patients, scientists report, suggesting such an approach might offer a way of treating this disease. Sickle cell anemia is the most severe type of sickle cell disease, which is…
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…
An upcoming Phase 1 clinical trial was recently awarded $5.74 million to evaluate an innovative blood stem cell transplant procedure for adults with severe sickle cell disease (SCD). The California Institute for Regenerative Medicine (CIRM) granted the funding to City of Hope, where the research will be conducted, and…
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…
Gamida Cell recently presented updated data from its ongoing Phase 1/2 clinical trial on an experimental alternative to bone marrow transplants in patients with sickle cell disease (SCD). Elbit Imaging, of which Gamida is an indirect shareholder, announced the information at the 2018 BMT Tandem Meetings in…
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…
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