Using DNA sequencing for accurate identification of microbial infections in cystic fibrosis patients
Lung infections are a constant risk for people living with cystic fibrosis (CF), a life-threatening genetic disorder which…
She had 28 tumors on her body, then one began to grow at an alarming rate
A woman living with 28 tumors across her body was repeatedly told a growth on her left wrist…
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…
Neurocrine to Buy Soleno, Nabbing Drug for Relentless Hunger Disorder
The deal is the latest in a busy year for dealmaking in the biotech industry. – eric piermont/Agence…
Parents Welcome ‘Miracle’ Baby After 3 Years of Infertility. 4 Months Later, He Dies from Rare Disorder
NEED TO KNOW Marci Shelman and Tristan Dederscheck’s “miracle” baby boy, Riot, was diagnosed with a rare and…
Experimental gene therapy successfully treats dozens of children with rare fatal disorder
ADVERTISEMENT An experimental gene therapy has successfully treated dozens of children with a rare and fatal immune disorder,…
Pacbio’s Puretarget simplifies carrier screening
Up to 71% of people carry at least one pathogenic variant that could contribute to development of a…
Harmony Biosciences’ Genetic Disorder Drug Disappoints In Phase 3 Study
Harmony Biosciences Holdings, Inc. (NASDAQ:HRMY) released topline results from its Phase 3 registrational clinical trial (the RECONNECT Study)…
Harmony Biosciences’ Genetic Disorder Drug Disappoints In Phase 3 Study
Harmony Biosciences’ Genetic Disorder Drug Disappoints In Phase 3 Study Harmony Biosciences Holdings, Inc. (NASDAQ:HRMY) released topline results…
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…
Insights into clinical features and genetic variants of Cornelia de Lange syndrome in China
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with symptoms, including facial anomalies (such as fused…
Gene-Therapy Treatment Of Infant With Rare Genetic Condition Successful In World First » TwistedSifter
Pexels When baby KJ was born with a rare disease, which could cause a potentially fatal amount of…