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Genetic

Juxtapid was approved by the FDA in December 2012 for the treatment of homozygous familial hypercholesterolemia (HoFH).
Chaperone drug AT2221 binds to ATB200 to help stabilize the latter ERT until it reaches its target (lysosomes).
It is the third gene therapy the company has in its pipeline to treat a rare lysosomal disease (in addition to Fabry and Gaucher therapies)
In this video, Dup15q mom Sarah Rasumussen stresses the importance of using the internet when working with a rare disease.
New study found that fathers pass along about 4 times as many new mutations as mothers do.
The Phase 3 clinical trial testing patisiran to treat ATTR amyloidosis with polyneuropathy has met its primary endpoint.
One year after its initial grant of $525,000, Cystic Fibrosis Foundation Therapeutics has granted $3 million in additional funding to 4D Molecular Therapeutics.
Prometic Life Sciences has released data from an ongoing Phase 2 open-label study, highlighting the safety and efficacy of PBI-4050 in patients with Alström Syndrome.
The U.S. Food and Drug Administration granted “Fast-Track” status to CPP-1X/sul for the treatment of adults with familial adenomatous polyposis this morning.
Rare Disease Report spoke with Jaya Trivedi, MD, professor of neurology at UT Southwestern Medical Center in Dallas, Texas, about periodic paralysis.
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