Inborn Errors of Metabolism

Strategic Aim: Our aims are to work together to deliver better diagnostics, connect natural history with understanding of the underlying disease mechanism, and develop and monitor the effectiveness of new therapies using听accurate disease biomarkers.听

This Section links 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.听The section provides a unique interdisciplinary environment that includes powerful mass spectrometry technology platforms听to听integrate multi-omics data听with听basic research and clinical application. We work听collaboratively with clinicians of GOSH and with colleagues across UCL. With strong links with UK and international colleagues/partners, we engage and partner with patient organisations and regulatory bodies.

We have broad research interests in:

Mitochondrial disorders
Lysosomal disorders
Neurotransmitter disorders
Neurological disorders
Cardiac diseases

And particularly:

Neuronal ceroid lipofuscinoses (Batten disease)
Niemann-Pick C disease
Vitamin B6-dependent epilepsies
Disorders causing hypermanganesemia
Congenital disorders of glycosylation
Urea cycle defects

皇家华人