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. 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. We work 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

• Dr Julien Baruteau
• Professor Peter Clayton 
• Professor Paul Gissen
• Professor Simon Heales 
• Dr Wendy Heywood 
• Professor Kevin Mills 
• Professor Philippa Mills 
• Professor Sara Mole 
• Dr Karin Tuschl