News posted 6 February, 2018

International research grant awarded to Manchester Centre for Genomic Medicine

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The Manchester Centre for Genomic Medicine at Saint Mary’s Hospital has been awarded a Centers of Research Excellence grant by US-based company FDNA.

The grant provides funding to researchers to advance next-generation phenotyping (NGP) and facial analysis technology at key sites working on precision medicine.

Led by Prof Jill Clayton-Smith, Consultant Clinical Geneticist at Saint Mary’s Hospital and Honorary Professor in Medical Genetics at The University of Manchester, and Dr Sophia Douzgou, the Manchester Centre will use FDNA’s Face2Gene suite of applications for research and clinical evaluations of patients.

The work is expected to determine the incremental value of using Face2Gene’s next-generation phenotyping technologies on patient evaluations and genetic test interpretation at Saint Mary’s. The collaboration is also expected to advance knowledge of specific diseases, such as chromatin remodeling disorders, by identifying deeper relationships between disease-related genetic variations and the phenotypes they cause.

“Genetic variations result in changes to a person’s phenotype in ways that technologies—like Face2Gene—can detect,” said Prof Jill Clayton-Smith. “Early detection could mean increased access by patients to life-improving therapy, and access for researchers to developing precision medicine.”

A patient’s phenotype is vital to understanding their genetics. While every person has genetic variations and errors — many of which are known to cause disease — such genes are not always expressed or result in related health issues.

Next-generation phenotyping technology looks at the expression of genetics, often measurable in biometrics such as facial analysis, to see which genes are actually being expressed. The result is increased ability of clinicians to predict what syndromes or genes to test for, as well as increased ability to interpret the genetic test results in light of the phenotype.

“We are proud to work with Manchester to further advance the power of biometrics and next-generation phenotyping in patient evaluations,” said Dekel Gelbman, CEO of FDNA. “We anticipate many advances not only in the technology itself, but also in understanding of disease genetics.”

Face2Gene is a next-generation phenotyping application that uses facial analysis, artificial intelligence and deep learning to help clinicians discover possible syndromes, genetics or clinical features that may be impacting a patient’s health. With a majority of clinical geneticists globally using Face2Gene at over 2,000 clinical sites in 130 countries, this initiative will ensure clinicians have access to the most up-to-date and comprehensive information to help them in their patient evaluations.