News

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…

Researchers have made advances in understanding how angiogenin, a key protein associated with amyotrophic lateral sclerosis (ALS), enters and is transported inside nerve cells. Although the mechanisms behind those events were found to be more complex than previously thought, the findings may help to find new targets and new therapies…

Nerve cells that control movement change their size as ALS progresses, becoming larger than normal at first but then ending up much smaller, a mouse study showed. An important finding was that the changes can prevent nerve cells from facilitating communication between the brain and muscles. The research provided scientists with…

Genervon Biopharmaceuticals says its efforts to develop treatments for ALS and other neurodegenerative diseases continue to focus on a factor that regulates stem cells’ evolution into nerve cells. It continues working on Phase 3 clinical trial plans, it added. The company outlined its treatment-development strategy at the…

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…

Scientists have gained greater insight into the structure of the nucleolus, a cellular organelle that has been implicated in diseases such as amyotrophic lateral sclerosis (ALS). By honing in on the molecular events surrounding ALS, scientists can start to understand how the disease develops, which could lead to new…