Rare Disease Report

Neurology

Results from a recent study found that the mutated huntingtin gene in patients with HD generates a class of small molecules that are highly toxic to cancer cells, but not healthy cells.
A study published in the journal eLife suggests that blocking an enzyme could reduce levels of the mutant huntingtin (mHTT) protein.
The FDA granted orphan drug designation to Scholar Rock for its lead antibody product candidate, SRK-015, for the treatment of spinal muscular strophy (SMA).  
 
At the 16th International Symposium on Amyloidosis, Alnylam presented results from the APOLLO Phase 3 study of patisiran, which targets transthyretin in hATTR amyloidosis.
Data presented at the 16th International Symposium on Amyloidosis in Japan were presented this morning, showing that inotersen-treated patients with hATTR amyloidosis continued to exhibit sustained benefit.
This new infographic from Rare Disease Report provides 5 little-known facts about the Huntington's disease that might not necessarily be covered in news articles. 
A genetic mutation that has previously been linked to Parkinson’s disease and Alzheimer’s disease could also be connected to ALS, according to a team of researchers supported by the National Institute of Health.
Positive data from a Phase 3 study of inotersen (IONIS-TTRx) in patients with hereditary ATTR amyloidosis was presented at the 2018 American College of Cardiology Annual Meeting.
In this video, Beth Stein, M.D., and myasthenia gravis patient Anaya Mitchell discuss mestinon, steroids, and other treatment methods for myasthenia gravis. 
In this video, Beth Stein, M.D. and myasthenia gravis patient Anaya Mitchell explain how raising awareness is changing the landscape for patients with myasthenia gravis and leading to medical breakthroughs for the patient population.
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