Christoffer Nellåker
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
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Diagnostically relevant facial gestalt information from ordinary photos.
Journal article
Ferry Q. et al, (2014), eLife, 3
Recent publications
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CHEDDA
syndrome is an underrecognized neurodevelopmental disorder with a highly restricted
ATN1
mutation spectrum
Journal article
Palmer EE. et al, (2021), Clinical Genetics
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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Journal article
White SM. et al, (2021), American journal of human genetics, 108, 749 - 756
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Journal article
den Hoed J. et al, (2021), American journal of human genetics
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The case for open science: rare diseases.
Journal article
Rubinstein YR. et al, (2020), JAMIA open, 3, 472 - 486
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Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits.
Journal article
Glastonbury CA. et al, (2020), PLoS computational biology, 16