A specialist in genetic medicine at the National Institute for Health Research's Manchester Biomedical Research Centre is leading a multi-national team investigating the genetics of immune system disorders.
Yanick Crow, Professor of Genetic Medicine at The University of Manchester, has been awarded a European Union 7th Framework grant of €5.4m over three years to investigate Nuclease Immune Mediated Brain and Lupus-like (NIMBL) conditions, comprising Aicardi- Goutières Syndrome (AGS), Retinal Vasculopathy with Cerebral Leukodystrophy and some cases of Systemic Lupus Erythematosus (SLE). He is co-ordinating a team of researchers from Italy, the Netherlands, Spain, the UK and the USA.
NIMBL conditions are devastating genetic disorders resulting in greatly reduced quality of life, high mortality especially in children, and significant risks of recurrence within affected families. NIMBL conditions are rare, but under-diagnosed. No effective treatments or cures exist at present.
"To enable optimum patient care in Europe and worldwide, a better understanding of the natural course of these disorders and their underlying pathological basis is essential," explained Professor Crow.
"In the NIMBL project, European and north American clinical and basic scientists at the forefront of NIMBL-related research have united to develop a translational approach to these problems. A registry of patients will reveal the natural history of the NIMBL diseases, and the efficacy of current treatments. Investigation of patients together with the use of existing and novel cellular and animal models will precisely define their pathogenesis and identify potential drug targets. These same platforms will then be used to test existing and new drug treatments, thus providing unique opportunities to European companies."
The NIMBL project will build on very recent discoveries of the cell-intrinsic initiation of autoimmunity, which have major implications for the understanding of the discrimination of self from non-self. This new biological paradigm involves cytosolic sensors that detect accumulated, endogenous nucleic acids which induce the body to mount an immune response against its own cells. Thus, the investigation of NIMBL diseases will not only improve the health and well-being of NIMBL patients and their families, it will also lead to better treatments of much more common autoimmune disorders including lupus
The Manchester research team has also been given a grant of €176,000 by the European Leukodystrophy Association (http://www.ela-asso.com) to pursue further research into Aicardi-Goutières syndrome.
Professor Crow, who is based in the department of Genetic Medicine at Saint Mary's Hospital, Manchester, added: "The awards from the European Union and the European Leukodystrophy Association will allow for a step change in our studies of AGS and related disorders. By defining the natural history of these diseases and better understanding their cell biology, I am convinced that we can develop smart medicines for this devastating group of conditions. Importantly, this work will also provide key insights into complex diseases sharing the similar pathogenesis, most particularly SLE."
Notes to editors:
The NIHR Manchester Biomedical Research Centre was created by the National Institute for Health Research in 2008 to effectively move scientific breakthroughs from the laboratory, through clinical trials and into practice within hospitals to improve patient care. As a partnership between Central Manchester University Hospitals NHS Foundation Trust and The University of Manchester, the Biomedical Research Centre is designated as a specialist centre of excellence in genetics and developmental medicine. www.cmft.nhs.uk/brc