Krystal Biotech, Inc. (KRYS), a gene therapy company dedicated to developing transformative medicines to treat diseases caused by protein or gene dysfunction, today announced interim results for a ...

CADASIL, an inherited disease caused by mutations in the NOTCH3 gene, damages the brain’s small blood vessels, leading to ...

Three cases suggest some clinicians lack understanding of relatively common autosomal recessive disorders and are ...

Sickle Cell Anaemia (SCA) is a serious genetic blood disorder that affects the haemoglobin, the protein in red blood cells ...

A new gene therapy appears to be safe in patients diagnosed with Friedreich ataxia cardiomyopathy, a progressive and fatal inherited cardiac disease, according to a phase 1 clinical trial led by Weill ...

Rapidly Advancing Five IRD Programs​with Four Clinical Data Readouts Expected in 2027RDH12, MERTK and RHO Programs Expected to Enter Clinical ...

For many couples, planning a family begins with conversations about finances, careers, homes, and hopes for the future. Rarely does it begin with a discussion about genes.

Congenital adrenal hyperplasia treatment took a significant step forward at ENDO 2026, where Crinetics’ atumelnant — an oral ...

- statement: MPS is a rare arthrogryposis form split into lethal and nonlethal Escobar types, with scoliosis requiring careful follow-up.

Histogram of log-scale U2-2 RNA levels in unaffected individuals (grey). The superimposed green lines denote five affected individuals with recessive ReNU2 syndrome. The stark difference between ...

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most ...

Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused by multiple pathogenic sequence ...