New DNA test improves diagnosis of rare genetic disorders
A new test provides a much more complete picture of DNA than current standard diagnostics and leads to…
Alberta family faces ‘uncertain future’ after toddler’s rare disease care funding denied
The Alberta family of a toddler with a rare condition is fighting with the province’s health-care system over…
Scientists Find That The Active Ingredient In Viagra Could Treat A Devastating Childhood
Credit: Wikimedia Commons A diagnosis of Leigh syndrome is often devastating for families. The rare genetic disorder steadily…
GOP Sen. Johnson investigating FDA rare disease drug rejections
WASHINGTON — Sen. Ron Johnson (R-Wis.) said he is investigating the Food and Drug Administration’s rejections of rare disease…
B.C. man cured of rare disease in world-first for new gene-editing technology
Ty Sperle says he felt “insane shock” after learning he’d been cured of a rare genetic disease through…
A Rogue Gene Explains Mysterious Cases of Diabetes and Epilepsy in Newborns
Credit: Wikimedia Commons When six infants around the world were diagnosed with an odd trio of symptoms (diabetes,…
Baylor Genetics Presents New Data on Clinical and
HOUSTON, Oct. 15, 2025 (GLOBE NEWSWIRE) — Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic…
Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025
OXFORD, England, October 15, 2025–(BUSINESS WIRE)–At the American Society of Human Genetics (ASHG) 2025 industry session on 16th…
GeneDx to Showcase Pioneering Research Findings at American Society of Human Genetics (ASHG) Annual Meeting
With unmatched scale and diversity, GeneDx Infinity™ powers scientific discovery while enabling the most precise clinical rare disease…
One-size-fits-(nearly)-all fix for V2R mutations
Genetic/congenital Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction…
Saol Therapeutics hit with CRL for rare genetic disease
The U.S. FDA issued a complete response letter (CRL) for the NDA to privately held Saol Therapeutics Inc.’s…