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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…

Many efforts have been made to improve care and find a cure for patients with Sanfilippo disease. While some pursuits have fallen short, others hold promise. In the study “How close are we to therapies for Sanfilippo disease?” researchers at University of Gdańsk, Poland, reviewed the latest…

Treating Sanfilippo syndrome type A (SSA) may be possible with a fusion protein that effectively reaches the brain, according to lab research with mice. The study, “Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamindase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse,” appeared…

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…