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.
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. 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
- Liver disease
And particularly:
- 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
- Baruteau Group - Dr Julien Baruteau
- Clayton Group - Professor Peter Clayton
- Gissen Group - Professor Paul Gissen
- Professor Simon Heales
- Heywood Group - Dr Wendy Heywood
- Mills Group - Professor Kevin Mills
- Mills Group - Professor Philippa Mills
- Mole Group - Professor Sara Mole
- Tuschl Group - Dr Karin Tuschl
Staff List
- Tomas Baldwin: Research Fellow
- Rachel Bates: Research Fellow
- Jose Angel Clemente-Ramos: Research Fellow
- Emily Gardner: Research Fellow
- Sonam Gurung: Research Fellow
- Jenny Hallqvist: Research Fellow- j.hallqvist@ucl.ac.uk
- Rohit Hirachan: Honorary Research Fellow - r.hirachan@ucl.ac.uk
- Youssef Khalil: Research Fellow
- Chris Minnis: Research Fellow
- Dany Perocheau: Research Fellow
- Simon Pope: Honorary Research Fellow
- Berna Seker Yilmaz: Research Fellow
- Tomasz Tomkiewicz: Research Fellow
- Joanna Toporowska: Research Fellow - j.toporowska@ucl.ac.uk
- Reddy Sree Vootukuri: Research Fellow
- Rebecca Jeyaraj: Honorary Research Associate - rebecca.jeyaraj@ucl.ac.uk
- Claudiu Cozmescu: Research Assistant - claudiu.cozmescu.15@ucl.ac.uk
- Ivan Doykov: Research Assistant
- Roopkatha Ghosh: Research Assistant - roopkatha.ghosh.22@ucl.ac.uk
- Sara Guttmann: Research Assistant - sara.guttmann.19@ucl.ac.uk
- Mina Nazari: Research Assistant - m.nazari@ucl.ac.uk
- Chiara Pojani: Research Assistant - c.pojani@ucl.ac.uk
- Justyna Spiewak: Research Assistant (Mass Spectrometry) - j.spiewak@ucl.ac.uk
- Sam Rowley: Research Assistant - sam.rowley@ucl.ac.uk
- Katarzyna Dyjach: Lab Technician - k.dyjach@ucl.ac.uk
- Jade Lau: Research Assistant / PhD
- Emmanouil Siganos: PhD Student - emmanouil.siganos.23@ucl.ac.uk
- Hasna Alashi: PhD Student - mrs.alashi.23@ucl.ac.uk
- Fatimah Almousawi: PhD Student
- Tatiana Alvarez Giovannucci: PhD Student
- Golsana Haghdousti: PhD Student
- Ziyu Jiang: PhD Student
- George Kagugube: PhD Student
- Phawin Kor-anantakul: PhD Student - phawin.kor-anantakul.24@ucl.ac.uk
- Claire Leckey: PhD Student
- Hendrik Vogt: PhD Student - hendrik.vogt.21@ucl.ac.uk
- Selen Yalkic: PhD Student - s.yalkic@ucl.ac.uk
- Haoyu Zhang: PhD Student
- Shayan Vatankhah: PhD Student - shayan.vatankhah.22@ucl.ac.uk
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Contact us
ich.ggm.admin@ucl.ac.uk (not secure for patient identifiers)
Inborn Errors of Metabolism Section
UCL Great Ormond Street Institute of Child Health
30 Guilford Street
London
WC1N 1EH