Bioscientia human geneticists reveal hidden co-inheritance of two recessive conditions by PacBio genome sequencing
In the current issue of Human Genetics and Genomics Advances, human geneticists from Bioscientia, Ingelheim (Germany) report “en bloc” inheritance of point mutations in adjacent genes which has rarely been described.
New genetic tumor syndrome identified
An international research team led by Prof. Dr. Hanno Bolz, Head of Bioscientia Human Genetics, has identified a new genetic tumor syndrome. The study provides important new insights into hereditary tumor diseases and shows how human genetics can help to improve the diagnosis and treatment of patients.
New cause of retinal dystrophy identified
An international team of scientists has identified a new gene for the most common form of genetic retinal degeneration, retinitis pigmentosa (RP). The study is led by Prof. Dr. Hanno Bolz, who took over as Head of Bioscientia Human Genetics at the beginning of 2023.