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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,…

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…

The gene-editing technology CRISPR/Cas9 was able to restore the expression of the FMR1 gene in nerve cells, the underlying cause of fragile X syndrome. The study “Rescue of Fragile X syndrome neurons by DNA methylation editing of…

A certain type of DNA mutation is related to impaired motor skills in children with autism spectrum disorders (ASD), including fragile X. The research behind that finding, “Damaging de novo mutations diminish motor skills in children on the autism spectrum,” was published in the journal Proceedings of the…

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…

Boston-based FDNA has launched a global initiative to promote medical research collaborations and to develop new precision approaches for diagnosing and treating disease, including Angelman syndrome. The initiative, called Genomics Collaborative, uses computer analysis and artificial intelligence technologies to integrate genetic information with the physical and biological characteristics of a particular disease.

An older existing medication that targets a pathway thought to be involved in fragile X syndrome failed to reverse any behavioral characteristics in mouse models of the disease, and was found to further compromise social skills in the mice. The therapy, rapamycin (also called sirolimus, brand name Rapamune),…

A mutation in the TSC2 gene leads to lower-than-usual levels of the fragile X mental retardation protein (FMRP) and its nerve cell targets, and might be of relevance to autism spectrum-related genetic disorders like fragile X, researchers report. Their study, “Purkinje cells derived from TSC patients display hypoexcitability and synaptic…

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…