Centenary Institute researchers have uncovered new genetic causes of inherited heart conditions, providing families with ...

The trial is a phase 1/2 open-label, ascending-dose study of the safety and efficacy of OPGx-LCA5. Recently, the company ...

Huntington’s disease (HD) is one of those rare conditions that affects not just the patient but the entire family—medically, emotionally and genetically. This inherited brain disorder causes gradual ...

Earlier this year, researchers at Children's Hospital of Philadelphia and Penn created a first-of-its-kind drug customized to ...

Scientists at Mayo Clinic have uncovered a rare genetic twist that challenges what we thought we knew about one of the world’s most common liver diseases.

A newly reported case study has documented a novel nonsense variant in the RTEL1 gene in a patient with familial pulmonary fibrosis (PF), adding to an expanding understanding of how telomere-related ...

Effective management of inherited retinal diseases requires a comprehensive approach to diagnosis and treatment, according to ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

A new, inexpensive urine test that measures two sugar alcohols, sorbitol and xylitol, is making it easier, faster, and far ...

With more than 250 peer-reviewed papers published in several high-impact journals, Katalin Susztak, MD, PhD, has opened the ...

Opus Genetics has dosed the first subject in its Phase I/II clinical trial of OPGx-Best1 gene therapy for the treatment of ...