Collaboration with UMass Chan Medical School confirmed FMR1-217 as well as an RNA-targeted mechanism to restore functional FMRP protein to develop potential treatments for FXS QurAlis’ preliminary ...

Mutations in FMR1, the gene encoding fragile X messenger ribonucleoprotein 1 (FMRP), located at Xq27.3 and discovered in 1991, are the leading single-gene causes of autism and intellectual disability.

Researchers have developed an innovative new nanopore sequencing assay to identify carriers of fragile X syndrome (FXS), the leading cause of monogenic autism spectrum disorder and inherited ...

Genetic studies of hippocampal granule neuron development have been used to elucidate cellular functions of Pten and Fmr1. While mutations in each gene cause neurodevelopmental disorders such as ...

PLYMOUTH MEETING, Pa.--(BUSINESS WIRE)-- Harmony Biosciences Holdings, Inc. (HRMY), today announced topline results from its Phase 3 registrational clinical trial (the RECONNECT Study) of ZYN002 in ...

Proof-of-concept study underway for investigational oral therapy in Fragile X syndrome; top-line data from Phase 2 expected in 2027 Mirum Pharmaceuticals, Inc. (Nasdaq: MIRM), a leading rare disease ...

Enthorin Therapeutics Announces Initiation of Phase II Clinical Trial of MRM-3379 (Formerly ENT-3379) for Fragile X Syndrome by Licensing Partner Mirum Pharmaceuticals Enthorin Therapeutics, LLC, a ...