Rapid diagnosis instead of a long odyssey

MHH Human Genetics: Whole-genome sequencing to bring the cause of rare diseases in critically ill children to light at an early stage. About four million people in Germany suffer from one of the many different rare diseases (SE) - especially seriously ill children who require intensive medical treatment. Most rare diseases are genetic and it often takes years before the correct diagnosis is found. Can the treatment of seriously ill children be improved by rapid genetic diagnosis? This question is being investigated by a team from Pediatrics and Human Genetics at Hannover Medical School (MHH) in the "Baby Lion" study. The focus is on decoding the genome, i.e. the entire genetic information of a human being, in just a few days. According to the EU definition, a rare disease is one that occurs no more than five times in a population of 10,000. In total, more than 7,000 different rare diseases are known.