Researchers at the University of Oklahoma are advancing the fight against inherited retinal diseases (IRDs) with new genetic ...

Avery and Mollie James welcomed their first baby four months ago. They had no idea that their son, Talon, would be diagnosed ...

Bone marrow transplants, while commonly known for treating cancers like leukemia and lymphoma, are also surprisingly used to treat various other conditions, including some genetic and autoimmune ...

Explore 5 rare genetic and neurological disorders named after pioneering women in medicine, highlighting their significant ...

At ARVO 2025, in Salt Lake City, Utah, Danielle Gauthuer talked about her poster on autosomal dominant Alzheimer's disease in relation to optic nerve head drusen.

Learn all about Gaucher Disease, its causes, symptoms, diagnosis, and treatment options. Understand this rare genetic ...

From an enrollment of more than 5 million, crude prevalence of autosomal dominant polycystic kidney disease was 67.3 per 100,000 persons. Prevalence was lowest for Native American and Alaska ...

Before receiving a kidney transplant, patients with autosomal dominant polycystic kidney disease often undergo a nephrectomy. But there hasn’t been clear guidance on who’s a good candidate ...

Autosomal dominant polycystic kidney disease (ADPKD), caused by mutations in the PKD1 or PKD2 genes, is among the most common human monogenic disorders and a leading cause of end-stage renal disease.

There are different ways this can happen. To have a child born with what’s called an “autosomal recessive disease” like sickle cell disease or cystic fibrosis, both you and your partner must ...

2 Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany 3 Institute for Advanced Study, Technical University of Munich, Garching, Germany ...

PC1 and PC2 are the protein products of the PKD1 and PKD2 genes and their levels have been shown to inversely correlate with disease severity. In the fourth cohort, 26 subjects received a fixed ...