Once Fabry disease is suspected, the diagnostic approach differs by sex, although genetic testing is required to confirm the diagnosis in all individuals. 1 This distinction exists because some ...

Juliana Campos (MSc, PhD) is a freelance writer with a strong scientific background in biomedicine, cellular and molecular biology, and biochemistry. She spent eight years working as a research fellow ...

Therapies for Gaucher disease generally fall into 2 main categories: enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Neither ERT nor SRT effectively treats the neurological ...

Comprehensive single-cell and spatial transcriptomic analyses of cholangiocarcinoma (CCA) uncovered distinct molecular programs distinguishing intrahepatic from extrahepatic subtypes, providing ...

Healthcare professionals generally agree that genetic testing can be useful in the HAE diagnostic process, but many urge caution in interpreting results.

Larry is a freelance journalist and photographer who specializes in covering the rare disease community.

Bruce is an advocate for Pompe disease. Confined to a wheelchair with complete paralysis, and being told he would never walk again, set Bruce in literal motion to engage in a range of sports and ...

I was diagnosed with generalized myasthenia gravis (MG) in August 2019. Prior to my diagnosis, I was the head of global sales and business development for a life science consulting firm. For nearly 10 ...

Jakira Avery was diagnosed with limb-girdle muscular dystrophy (LGMD) at a very young age. She uses a wheelchair and is dependent on a ventilator at night due to her having a tracheotomy. Jakira ...

Are you a healthcare provider looking for information on diffuse large B-cell lymphoma (DLBCL) diet and nutrition? Read more here.

Rare Disease AdvisorManuela Callari, PhD, is an award-winning freelance science and medical journalist. She writes about human and planetary health, technology, and climate change. Her work has been ...

Two phase 3 clinical trials are recruiting patients with CIDP to evaluate the efficacy of riliprubart treatment.