One to two out of every 100 newborn babies are born with a Congenital Heart Defect (CHD), yet the exact cause remains unclear. Human geneticists at the University Medicine Oldenburg (Germany) have now presented a new method for determining whether a NOTCH1 gene variant is causative. Once they know this, doctors will be able to make more reliable diagnoses and develop targeted and effective therapies. In addition, patients and their families will finally be able find out whether a heart defect is likely to be hereditary. A team led by Professor Dr. Marc-Phillip Hitz, Director of the University Institute for Medical Genetics at the Klinikum Oldenburg, and Dr. Gregor Dombrowsky, the first author of the study, reported its findings in Genome Medicine.
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