The genetic answer to rare diseases
The standard treatment is a liver transplant, but this entails a high risk of complications in infants. Thanks…
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…
Researchers find CFI deficiency alarmingly high in old order Amish
Researchers from the Children’s Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor…
Anderson family battling 3-year-old’s rare gene disorder | Local News
ANDERSON — An Anderson family is battling their 3-year-old son’s rare brain-development condition. It’s believed that Beau Hanson…