People with Fabry disease don’t produce enough of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). Without enough of this enzyme, sphingolipids, a fat-like substance, build up in blood ...

Fabry disease in mainland China is now mapped through the largest single-centre cohort to date, clarifying how α-galactosidase A deficiency, genotype and sex jointly sculpt the clinical spectrum.

Fabry disease in mainland China is now mapped through the largest single-centre cohort to date, clarifying how α-galactosidase A deficiency, genotype and sex jointly sculpt the clinical spectrum.

NEWARK, Calif.--(BUSINESS WIRE)--AceLink Therapeutics, Inc., a clinical-stage biopharmaceutical company developing the next generation of oral substrate reduction therapies (SRTs), announced today ...

Amicus Therapeutics focuses on rare diseases like Fabry and Pompe, with Galafold and Pombiliti as main value drivers. Galafold is the only oral treatment for Fabry disease, stabilizing the alpha-Gal A ...

A nonprofit aimed at improving early diagnosis for a rare and life-threatening disorder is hosting its fifth annual fundraiser in the Upstate. Testing for Tots will host its 5th Annual Tasting for ...

RICHMOND, Calif.--(BUSINESS WIRE)--Sangamo Therapeutics, Inc. (Nasdaq: SGMO), a genomic medicine company, today announced positive topline results from the registrational Phase 1/2 STAAR study ...

Rare genetic diseases are a hidden epidemic, affecting a sizable portion of the population and often going undiagnosed or misdiagnosed. Dr. Saumya Shekhar Jamuar, MBBS, MRCPHCH, FAMS, FACMG, Senior ...

LEXINGTON, Mass. and AMSTERDAM, Sept. 05, 2025 (GLOBE NEWSWIRE) -- uniQure N.V. (NASDAQ: QURE), a leading gene therapy company advancing transformative therapies for patients with severe medical needs ...