Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by a near-total absence of ...

1 Department of Pathology, Brigham and Women’s Hospital, Boston, Massachusetts, USA 2 Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA 3 Harvard Medical School, ...

Alkaptonuria is a rare genetic disorder that causes black urine due to homogentisic acid buildup, leading to joint pain, ...

Belite Bio is a biotech firm specializing in innovative therapies for retinal degenerative eye diseases with high unmet needs ...

By next-generation sequencing of 4 multiplex, autosomal dominant families and 2 simplex, autosomal recessive families with hereditary deafness, we identified a variety of candidate pathogenic variants ...

LIG4 syndrome is an exceptionally rare disorder caused by a genetic mutation that prevents the body from repairing damaged ...

Families with autosomal dominant, autosomal recessive, and X-linked inheritance have been described. The cardinal abnormalities on examination of patients with pure HSP include spasticity, ...

Pooja, a 30-year-old woman, had been battling kidney failure due to diabetes since 2022. Initially misdiagnosed with an 'O' ...

Sickle cell anaemia is a genetic blood disorder characterised by the production of an abnormal haemoglobin, known as ...

Jennison Associates LLC lifted its position in shares of Rocket Pharmaceuticals, Inc. (NASDAQ:RCKT – Free Report) by 72.6% during the 4th quarter, according to its most recent filing with the ...

San Francisco, California Wednesday, February 5, 2025, 16:00 Hrs [IST] ...