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Three organizations that are fighting neurodegenerative disorders have teamed up to challenge researchers around the world to come up with new treatment approaches. The ALS Association, the Huntington’s Disease Society of America (HDSA) and Teva Pharmaceuticals have started the crowdsourcing effort, known as the Teva CNS Target Identification…

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…

Scientists have discovered a key role for the ALS-linked protein known as fused in sarcoma (FUS) in a system that is crucial to regulating gene expression. The study, “FUS Regulates Activity of MicroRNA-Mediated Gene Silencing,” was published in the journal Molecular Cell. FUS is a DNA/RNA-binding protein involved in repairing…

Syracuse University researchers have obtained further insight into the protein UBQLN2, whose mutations have been associated with the development of amyotrophic lateral sclerosis (ALS). The study, “Ubiquitin Modulates Liquid-Liquid Phase Separation of UBQLN2 via Disruption of Multivalent Interactions,” was published in the journal Molecular Cell. There are many…

High levels of a protein that transports vitamin A through the body helps protect against the development and progression of ALS, a German study suggests. The protein, retinol binding protein 4 (RBP4), is secreted by fat tissue. The study’s findings suggest it is a potential target for a therapy that could…

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…

The Montreal Neurological Institute of McGill University and Thermo Fisher Scientific have recently partnered to accelerate the understanding of neurological disease by focusing on about 30 proteins associated with amyotrophic lateral sclerosis (ALS) and other brain diseases. The collaboration is part of…

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…

Researchers have identified genes that promote amyotrophic lateral sclerosis (ALS), using the gene-editing technology CRISPR-Cas9. The findings represent not only another piece of information to understand the molecular mechanisms triggering ALS, but also support the newly identified genes as potential targets for future therapeutics. The study “CRISPR–Cas9 screens in human cells…