In this Section we work together on inherited metabolic diseases to deliver better diagnostics, connect natural history with understanding of the underlying disease mechanism, develop new therapies and monitor the effectiveness of new treatments using accurate disease biomarkers.
We link groups led by international experts who specialise in inherited rare diseases arising from disorders of metabolism and specific organelles, covering the full translational pathway from diagnosis, genotype-phenotype correlation, disease mechanism to therapeutic development. The Section provides a unique interdisciplinary environment that includes powerful mass spectrometry technology platforms to integrate multi-omics data with basic research and clinical application.
Gene based therapies are being developed in house by the PIs independently and in collaboration with industry and other academic groups. These include AAV and lentiviral vector-based gene therapies, RNA therapies including antisense oligonucleotides and mRNA. Many pioneering trials in patients with inherited metabolic diseases are led by the Section academics at our partner institution Great Ormond Street Hospital (GOSH) and employ gene therapies as well as novel enzyme replacement therapies and small molecules.
We work collaboratively with clinicians of GOSH and with colleagues across UCL. We have strong links with UK and international colleagues/partners, and we engage and partner with patient organisations and regulatory bodies.
Our research:
We have broad research interests in:
- Mitochondrial disorders
- Lysosomal disorders
- Neurotransmitter disorders
- Neurological disorders
- Cardiac diseases
- Liver disease
We have specific research interests in:
- Neuronal ceroid lipofuscinoses (Batten disease)
- Niemann-Pick C disease
- Fabry disease
- Gaucher disease
- Vitamin B6-dependent epilepsies
- Disorders causing hypermanganesemia
- Congenital disorders of glycosylation
- Urea cycle defects
- Fabry and Gaucher disease
- Bile acid disorders
Research Groups
Section Head