Christoffer Nellåker

Research Fellow, Nuffield Department of Women's & Reproductive Health

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.

Key publications

Diagnostically relevant facial gestalt information from ordinary photos.
Journal article

Ferry Q. et al, (2014), eLife, 3

Recent publications

A call for global action for rare diseases in Africa.
Journal article

Baynam GS. et al, (2020), Nature genetics, 52, 21 - 26
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Journal article

Cogné B. et al, (2019), American journal of human genetics, 104, 530 - 541
Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21st Newborn Case-Control Study protocol
Journal article

Kennedy S. et al, (2019)
Big data phenotyping in rare diseases: some ethical issues.
Journal article

Hallowell N. et al, (2019), Genetics in medicine : official journal of the American College of Medical Genetics, 21, 272 - 274
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Journal article

Nellåker C. et al, (2019), Frontiers in genetics, 10

More publications