Imperial College London

Dr Vanessa Sancho-Shimizu

Faculty of MedicineDepartment of Infectious Disease

Reader in Human Genetics of Infectious Diseases
 
 
 
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Contact

 

+44 (0)20 7594 3914v.sancho-shimizu

 
 
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Location

 

309Norfolk PlaceSt Mary's Campus

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Summary

 

Summary

Vanessa Sancho-Shimizu is a UKRI Future Leaders Fellow and Reader in the sections of Paediatrics Infectious Diseases and Virology investigating the human genetic basis of life-threatening infections.

Vanessa Sancho-Shimizu was awarded her PhD in 2007 from McGill University (Canada), where she carried out her doctoral studies in Human Genetics at the Centre for the study of Host Resistance to Infectious Disease. She moved to Paris, France for her postdoctoral studies at the laboratory of Human Genetics of Infectious Disease at Necker Enfants Malades Hospital / Universite Paris Descartes as a Marie Curie Fellow under the supervision Prof Jean-Laurent Casanova. During this time, she developed an expertise in investigating single gene disorders underlying childhood herpes simplex encephalitis (HSE). She came to Imperial College London in 2012 as a Marie Curie research fellow in the section of Paediatrics, continuing her work on HSE, but also extended the search for inborn errors of immunity to other severe childhood viral infections and invasive meningococcal disease (IMD). She started her own group in 2014 as a Senior Research Fellow with a career development award from the Medical Research Foundation. In 2019, Vanessa became a Lecturer and was also awarded a UKRI Future Leader’s Fellowship, became Senior Lecturer in 2021 and further promoted to Reader in 2023.

Vanessa’s lab is interested in understanding the genetic basis of life-threatening infections and has elucidated the first genetic aetiologies of childhood herpes encephalitis, critical COVID-19 disease, and invasive meningococcal disease. Her research focusses specifically on assessing rare genetic variants identified by whole exome sequencing that affect responses to viral or bacterial infections including type I, II, II interferons, TLR signaling, autophagy, and other pathogen recognition pathways. She is currently working on identifying genes underlying childhood (1) herpes simplex encephalitis (HSE), (2) severe viral infections, and (3) invasive meningococcal disease (IMD).

She helped established a BRC- funded Paediatric Infectious Disease clinic to recruit patients, who are otherwise healthy presenting with life-threatening infections, in collaboration with her Paediatric colleagues at St Mary’s Hospital in London. Her lab has developed the use of patient cell-based assays including iPSC-derived neuronal cultures and cerebral organoids for identification and characterization of new inborn errors of immunity.

Dr Sancho-Shimizu is a Satellite Group Leader at the Francis Crick Institute, executive board member of the Centre for Paediatrics and Child Health at Imperial College London, elected member of the Henry Krunkel Society and steering committee member for the international COVID Human Genetic Effort (COVIDHGE) and co-leads the MIS-C genetic taskforce.

https://www.imperial.ac.uk/centre-for-paediatrics-child-health/

https://www.covidhge.com/

Publications

Journals

Horesh ME, Martin-Fernandez M, Gruber C, et al., 2024, Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis., J Exp Med, Vol:221

Schlapbach LJ, Ganesamoorthy D, Wilson C, et al., 2024, Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study., Lancet Child Adolesc Health

Bastard P, Gervais A, Taniguchi M, et al., 2024, Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children., J Exp Med, Vol:221

Matuozzo D, Talouarn E, Marchal A, et al., 2024, Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19., Genome Med, Vol:16

Bastard P, Vazquez SE, Liu J, et al., 2023, Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs., Sci Immunol, Vol:8

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