The Molecular Basis of Rare Diseases (MBRD) Section brings together researchers who have a shared vision of improving management and support for young people and families with rare genetic conditions.
We have a range of interests in conditions including dermatology, neuromuscular disorders, mitochondrial biology endocrinology/neuroendocrinology, fetal growth and disorders of pregnancy and craniofacial conditions.
We also harbour expertise in areas such as epigenetics, somatic influences on disease, RNA-targeted therapy, developmental transcriptomics and single-cell biology.
We use high throughput platforms to improve diagnosis of new and established conditions and work closely with GOSgene, UCL Genomics and Genomics England. We also investigate the molecular mechanisms of these conditions, with the aim of improving individual management and developing new treatments. Current strategies of interest include repurposing medicines, nucleic acid therapy and personalized medicine, gene editing in stem cell models and gene therapy.
Whilst our focus is on rare diseases, our work is also relevant for understanding several more common conditions. Our discoveries shed light on many key biological mechanisms that are relevant across the life course.
Research Groups
Senior Researchers
- Dr Maanasa Polubothu (BRC Catalyst Fellowship)
- Dr Louise Gregory (BRC Catalyst Fellowship)
Emeritus Professors
Section Head