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Hidden co-inheritance of two recessive conditions by PacBio genome sequencing

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. 

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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.

Here you find the most important results of this study 

New cause of retinal dystrophy identified

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.

Find out more about the clinical benefits in this article