Metabolic and Hematologic Genetic Diseases

A research-grounded US/Canada guide to Niemann-Pick disease / ASMD and the SMPD1 gene, explaining what a carrier result means, how testing works, and what olipudase alfa (Xenpozyme) can and cannot treat.

A research-grounded US/Canada guide to maple syrup urine disease and the BCKDHB gene, explaining what a carrier result means, how testing and newborn screening work, and today's treatment landscape.

A research-grounded US/Canada guide to Pompe disease and the GAA gene, explaining what a carrier result means, how testing works, and the modern enzyme-replacement era.

A calm, research-grounded guide for carriers and worried parents on what a G6PC variant means, how von Gierke disease is managed, and where new gene therapy stands.

A research-grounded guide to a 23andMe PAH carrier flag for phenylketonuria: what a single variant means, the real recurrence-risk math, and your correct US and Canada next steps.

A research-grounded guide to a 23andMe GBA1 carrier flag for Gaucher disease: what it means, the honest Parkinson's-risk picture, and your correct US/Canada next steps.

A 23andMe HBB carrier flag rarely means disease. Here is what peer-reviewed genetics, WHO burden data, and FDA records really say about beta-thalassemia trait.

A research-grounded guide to what a 23andMe sickle cell carrier result means. Trait is not the disease. Covers inheritance odds, testing, the 2023 FDA gene therapies, and GINA.

A research-grounded guide to Factor V Leiden: what a "variant detected" result really means, the true absolute clot risk, and why most carriers never need lifelong treatment.

Alpha-1 antitrypsin deficiency is an inherited lung and liver condition. Learn what a PI*ZZ or MZ result really means, how a 23andMe screen differs from a diagnosis, and your GINA rights.