New national Rare Disease role for Professor Graeme Black

Professor Graeme Black, Strategic Director of the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital, has been appointed as Theme Lead for Eye Diseases in the Rare Disease Translational Research Collaboration (TRC).

The Rare Disease TRC is a major national initiative set up by the National Institute for Health Research (NIHR). The aim is to harness and further develop the existing NHS research infrastructure to support translating outcomes of patient-centred research into the development of new, effective therapies and real-life patient benefit.

Graeme Black, who is also Professor of Ophthalmology and Genetics at The University of Manchester, will lead the pioneering work of the Eye Disease Theme of the Rare Disease TRC. The Theme will focus on detailed retinal functional testing using psychophysics and electrophysiology, combined with detailed ocular imaging to explore the effects of specific genetic mutations on retinal and optic nerve function. Led from the NIHR Moorfields Biomedical Research Centre, it brings together colleagues from across Newcastle, Cardiff, Oxford, Leeds, Cambridge and Manchester.

Professor Black explains the work of the Rare Disease TRP: “The importance of the work undertaken to diagnose and treat rare diseases – which affect around 1 in 17 – is being increasingly recognised. Nowhere is this better documented, than in the recent publicity surrounding the 100,000 genomes project.”

The 100,000 genomes project was launched by the Prime Minister with the aim of sequencing 100,000 whole genomes from NHS patients by 2017. The ambitions of the project are; to create an ethical and transparent programmes based on consent; to bring benefit to patients and set up a genomic medicine service for the NHS; to enable new scientific discovery and medical insights; and to kick start the development of a UK genomics industry.

Professor Black added: “The field of eye diseases has been at the forefront of understanding the genetic basis of disorders, such as congenital cataracts, and taking this through towards possible treatments, which we have recently seen through the first trial of choroideremia gene therapy. Ensuring that this work is taken forward and, most importantly, ensuring equitable access to novel diagnostic and therapeutic strategies for all parts of the UK will be an important future task”

Please visit the Rare Disease TRC website for more information about the collaboration.