Brain: Track the causes of rare diseases in children

Human geneticists at Leipzig University Hospital often conduct complex studies when trying to explain child developmental disorders, as the causes often cannot be immediately determined

If the cause is unclear, research projects sometimes sequence

From clinical discoveries to scientific databases

Two cases of unexplained child developmental disorders were recently identified at the Leipzig University Hospital and studied

Researchers at the University of Halifax in Canada helped establish a link

New causes of developmental disorders

A team of human geneticists in Leipzig, led by Dr Henry Oppermann, successfully resolved a second case

A working group led by Professor Michael Schaefer, Director of the Institute of Pharmacology and Toxicology at Rudolf Boehm of the School of Medicine, and Professor Frank Gaunitz of Neurosurgery, the scientists investigated the effects

The findings from Leipzig will have practical benefits for doctors

Both research papers were prepared by the Institute of Human Genetics in Leipzig as part of a doctoral thesis: one was Chiara Kl?ckner (CHKA) and the other was Jacob Rahimi (ATP2B1