genetic skin condition
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
Machine learning and other artificial intelligence tools are already improving the detection of relatively common conditions, such as breast cancer through mammography. Benjamin Solomon, M.D., NHGRI clinical director and senior clinician in the NHGRI Medical Genetics Branch, wants to know if we can find a way to use these tools at surface level -- to diagnose genetic conditions that affect the skin. Genetic disorders are often rare and notoriously difficult to diagnose. On average, it takes between five and 10 years from the onset of symptoms to pinpoint the exact genetic cause of a rare condition. The long and arduous diagnostic journey often delays treatment, and it typically ends up being costly and isolating.