Permanent and efficient inactivation of the TTR gene by genome editing is the aim of a novel therapeutic approach currently being investigated for the treatment of a rare congenital disease, [...]
Researchers of the Institute of Human Genetics at the University Medical Center Göttingen, together with their colleagues at the Institute of Human Genetics in Essen and other collaboration [...]
PCDHGC4 is the first member of the protein family of clustered protocadherins that has been linked to a congenital human disorder. An international research collaboration led by scientists from [...]
Autosomal dominant and recessive variants of the CLCN3 gene cause neurodevelopmental disease. Scientists of an international research collaboration studied patients with global developmental [...]
Chromodomain-helicase-DNA-binding protein 6, encoded by the CHD6 gene, is a so-called chromatin remodeller. These proteins modify the chromatin architecture in the cell, thereby regulating the [...]
Using a machine learning model, researchers have shown in a recent study that, depending on the position of mutations, variants of the SRCAP gene do not only cause Floating Harbor syndrome but [...]
