Baruteau Group

Dr Julien Baruteau is a MRC Clinician Scientist Fellow and Group Leader at University College London Great Ormond Street Institute of Child Health, and Consultant in Metabolic Medicine at Great Ormond Street Hospital for Children in London. His research focuses on studying the pathophysiology and developing novel therapies for inherited metabolic diseases. He has developed gene therapy using both viral and non-viral vectors and is the UK chief investigator in first-in-human gene therapy clinical trial. He has expertise in translating academic and industry-led programmes of gene therapies. He is the member of experts’ committees from the European Society of Gene and Cell Therapy, the American Society of Gene and Cell Therapy and the European Society of Human Genetics.

The Baruteau group studies the mechanisms of inherited metabolic diseases and develops dedicated novel therapies for patients affected by these disorders. The main projects are:

Urea Cycle Defects and Arginine Metabolism

The liver-based urea cycle is an essential metabolic pathway, which detoxifies ammonia, an essential neurotoxic compound, produced by the breakdown of proteins. Impaired urea cycle can alter the synthesis of arginine, a substrate for important metabolites such as nitric oxide (NO), creatine and polyamines, are involved in neurotransmission, cellular energy, gene regulation.

We have a long-standing interest in studying argininosuccinic aciduria, the second most common urea cycle disorder caused by deficient argininosuccinate lyase enzyme. We study the clinical phenotype of the disease, the pathophysiology of the disease in different organs using cell and molecular biology and develop novel therapies.

Gene therapy in inherited metabolic diseases

We develop liver and brain targeting gene therapies for inherited metabolic diseases, with both viral (AAV, lentiviral vectors) and non-viral (lipid nanoparticles, exosomes) approaches. Julien Baruteau is the principal investigator in gene therapy clinical trials at Great Ormond Street Hospital for Children. The close links between UCL Great Ormond Street Institute of Child Health and the hospital enable to translate some gene therapy programmes to patients affected by these genetic metabolic diseases.

Developing innovative non-invasive molecular imaging

We explore the pathophysiology of inherited metabolic diseases with novel imaging techniques such as positron emission tomography or specific magnetic resonance imaging sequences. We aim to translate these findings to patients to monitor their disease progression and as efficacy endpoints for novel therapies.

Collaborators

Funders

Publications

2024
2023
2022
  • Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, Barth M, Bozaci AE, Brassier A, Canda E, Cano A, Chronopoulou E, Connolly GM, Damaj L, Dawson C, Dobbelaere D, Douillard C, Eminoglu FT, Erdol S, Ersoy M, Fang S, Feillet F, Gokcay G, Goksoy E, Gorce M, Inci A, Kadioglu B, Kardas F, Kasapkara CS, Kilic Yildirim G, Kor D, Kose M, Marelli C, Mundy H, O'Sullivan S, Ozturk Hismi B, Ramachandran R, Roubertie A, Sanlilar M, Schiff M, Sreekantam S, Stepien KM, Uzun Unal O, Yildiz Y, Zubarioglu T, Gissen P. Three-Country Snapshot of Ornithine Transcarbamylase Deficiency. Life (Basel). 2022 Oct 27;12(11). doi: 10.3390/life12111721. PubMed PMID: 36362876; PubMed Central PMCID: PMC9695856. 
  • Elangovan R, Baruteau J. Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation?. Front Pharmacol. 2022;13:972468. doi: 10.3389/fphar.2022.972468. eCollection 2022. Review. PubMed PMID: 36249776; PubMed Central PMCID: PMC9559827. 
  • Duff C, Baruteau J. Modelling urea cycle disorders using iPSCs. NPJ Regen Med. 2022 Sep 26;7(1):56. doi: 10.1038/s41536-022-00252-5. Review. PubMed PMID: 36163209; PubMed Central PMCID: PMC9513077. 
  • Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency. J Med Genet. 2022 Apr;59(4):377-384. doi: 10.1136/jmedgenet-2020-107510. Epub 2021 Mar 18. PubMed PMID: 33737400. 
  • Yeo M, Rehsi P, Dorman M, Grunewald S, Baruteau J, Chakrapani A, Footitt E, Prunty H, McSweeney M. Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders. JIMD Rep. 2022 Mar;63(2):137-145. doi: 10.1002/jmd2.12274. eCollection 2022 Mar. PubMed PMID: 35281661; PubMed Central PMCID: PMC8898712. 
2021
2020
  • Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Frémond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldán A, García-Pérez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenço CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23. PubMed PMID: 33230297. 
  • Yilmaz BS, Gurung S, Perocheau D, Counsell J, Baruteau J. Gene therapy for inherited metabolic diseases. J Mother Child. 2020 Nov 10;24(2):53-64. doi: 10.34763/jmotherandchild.20202402si.2004.000009. Review. PubMed PMID: 33554501; PubMed Central PMCID: PMC8518100.

Principal Investigator

Julien Baruteau - UCL Profiles page

Dr Julien Baruteau

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 ​Section staff list

Inborn Errors of Metabolism Section
UCL Great Ormond Street Institute of Child Health
30 Guilford Street
London
WC1N 1EH