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UCL Great Ormond Street Institute of Child Health

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Molecular Basis of Rare Diseases

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 including fetal growth and disorders of pregnancy, hearing, endocrinology, dermatology, craniofacial disorders, muscular dystrophies and mitochondrial biology. 

We also harbour expertise in areas such as epigenetics, somatic influences on disease, and developmental transcriptomics. 

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, exon skipping, 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.