Human life is fashioned from human gametes, containing the genome of the individual. There are more than 6,000 rare diseases and most are inherited disorders. Women’s health is important as it influences ultimately long term reproduction. Fetal development is dependent upon maternal influences, both in health and disease. In-utero growth and development effect long-term outcome in child hood and adult life through prenatal programming. Prematurity and fetal disease increases risks to children.
Children make up 25% of the UK population and care encompasses normal and abnormal growth and development, acute infectious disease, rare inherited disorders, and chronic disorders shared by the adult population. Advances in the human genome project, immunisations and biologics therapies are transforming the management of each of these areas, and beginning to transform the lives of affected children. The future holds the hope for targeted therapies for well phenotyped cohorts of children with specific disorders.
Our research covers areas from the laboratory bench to the clinical work place in areas of clinical and molecular genetics, reproduction, women’s and children’s health.
There are close collaborations between the areas of research theme. We have state-of-the-art laboratories in the IBR that are working on aspects of molecular genetics, including animal model through to close liaisons with the Centre for Endocrinology, Diabetes and Metabolism in Reproduction and Children’s’ Health. The research performed is directed into ‘translational and clinical areas’ of genomic medicine, rare diseases, reproductive medicine and endocrinology, fetal health and disease.
The Birmingham Trials Units is a key player in the pursuit of trials in Pregnancy and Women’s Health. There is a large portfolio of NIHR studies and close collaborations with the School of Population and Primary care and the Wellcome Trust Clinical Research Facility at UHB. This is in areas as diverse as assisted conception, fetal development and therapy, obstetric disease and safe delivery of babies. In addition, several large trials investigate quality of life and women’s health.
In Paediatric and Children Health, translational research occurs in a dedicated Wellcome Trust funded paediatric Clinical Research Facility. This offers facilities for detailed clinical investigation of children including body composition, cardio-metabolic, biochemical and genetic studies. Currently there are over 60 studies supported with around 2,000 children participating in Birmingham each year.
There is also an established Centre for Rare Diseases and Personalised Medicine which allows cross School and indeed cross College collaboration and research.