Rare diseases are individually rare but collectively very common. It is estimated that one in seventeen people have some type of rare disease. Clinicians frequently look for characteristic changes in facial features to help find a diagnosis.

Dr. Nellåker’s group is translating the latest developments in computer vision and computational biology to aid diagnosis of rare diseases. The work is a collaborative effort to apply the latest techniques from facial recognition research for disease phenotyping. The aim is to bring this to clinical use to help narrow down the search for a correct diagnosis and to be used together with genome sequencing to identify mutations causing disease.