Director of the Centre for Rare Disease Studies Birmingham
Professor Timothy Barrett
Timothy Barrett is a Professor of Paediatrics, Honorary Consultant in Paediatric Endocrinology and Diabetes, and Program Director for the Wellcome Trust Clinical Research Facility at the Birmingham Children’s Hospital.
Professor Barrett has published over 100 research papers in scientific journals as well as reviews and book chapters in the fields of paediatrics, diabetes and genetics of childhood diabetes syndromes. He has received major grants from The Medical Research Council, The Wellcome Trust, European Union Directorate General for Health and Consumer Affairs, Diabetes UK and Wellchild.
Deputy Director of the Centre for Rare Disease Studies Birmingham
Dr Martin Higgs
Dr Higgs’ area of expertise is in the cellular response to DNA damage and in characterising the interplay between DNA repair and post-translational modifications. His particular interest is in studying how one modification, known as Lysine methylation, regulates this process. He also maintains a strong interest in how dysregulation of Lysine methylation and/or epigenetic modifications contributes to neuropsychiatric rare disease.
Theme leads
Professor Larissa Fabritz
Professor Fabritz studies novel mechanisms of heart disease and performs translational research towards mechanism-based therapies of these diseases. As a clinical consultant, she also sees patients in the Department of Cardiology at UHB. Larissa engages in research on molecular mechanisms of cardiomyopathies and arrhythmias as well as molecular cardiovascular imaging with her working group at the University of Birmingham and collaborations throughout Europe and North America.
Dr Paul Clift
Consultant Cardiologist, Clinical Lead for the Centre for Rare Diseases
University Hospitals Birmingham NHS Foundation Trust
Dr Clift trained at Birmingham Children's Hospital and the Great Ormond Street and Heart Hospital in London. He is a specialist in adult congenital heart disease, and has carried out varied research into congenital heart disease. He is also the NIHR Clinical Research Network National Specialty Lead for Cardiovascular Disease.
Dr Larissa Kerecuk
Rare Disease Lead, Consultant Paediatric Nephrologist, Transition and Research Lead for the Renal Department
Birmingham Women’s and Children’s NHS Foundation Trust
Dr Kerecuk is the Rare Disease Lead at Birmingham Children’s Hospital and is developing the first Paediatric Rare Disease Centre in the UK for holistic patient care. Larissa also leads the 100,000 Genome Project at Birmingham Children’s Hospital. As Consultant Paediatric Nephrologist, Larissa specialises in treating children with kidney diseases including those on dialysis, who require a holistic approach.
Dr Swati Naik
Consultant in Clinical Genetics, Rare Disease Lead
Birmingham Women’s and Children’s NHS Foundation Trust
Dr Naik is the Rare Disease Lead at the West Midlands Clinical Genetics Unit within the Birmingham Women's Hospital. She is a consultant clinical geneticist with strong links to the 100,000 Genome project as well as playing a key role in mainstreaming genomic technologies for diagnosis, and national strategic planning in genetics.
Professor Grant Stewart
Professor Stewart works on understanding how the cell detects and repairs damage to its DNA and how defects in this process contribute to the development of human disease. He has a long-standing interest in rare human diseases associated with defective DNA repair and/or abnormal DNA replication such as Ataxia-Telangiectasia, Fanconi Anaemia, Seckel Syndrome and Microcephalic Primordial Dwarfism.
Rare disease infrastructure
Biomolecular NMR facility
Centre for Patient Reported Outcomes Research
Centre for Rare Disease Studies
Centre for Rare diseases Birmingham Women's and Children's Hospital
Centre for Rare Diseases University Hospitals Birmingham
CRUK Clinical Trials Unit
Genome Medicine Laboratory Hub
Human Biomaterials Resource Centre
Metabolic tracer analysis
Midlands and Wales Advanced Therapies Treatment Centre (ATTC)b consortium
NIHR Bioresource Birmingham
NIHR Wellcome Clinical Research Facility
Sequencing and Genomics Facility