Centre for Genomic & Experimental Medicine
Centre for Genomic & Experimental Medicine

Yanick Crow Research Group

Genetic disorders of Human Neurological and Immune Function

Professor Yanick Crow
Professor Yanick Crow

Section: Medical Genetics 

Research in a Nutshell

Our work started with the Mendelian inflammatory disorder Aicardi-Goutières syndrome (AGS). Clinical and genetic studies of this severe disease helped to expand the phenotypic spectrum associated with mutations in the AGS-related genes, define a cell-intrinsic mechanism for the initiation of autoinflammation / autoimmunity by stimulatory nucleic acids, and further emphasise the importance of type I interferon processing in the pathogenesis of certain non-Mendelian disorders, particularly systemic lupus erythematosus. Since then, a combination of clinical, genetic and immunological perspectives has led us to suggest that monogenic disorders associated with an upregulation of type I interferons represent a novel set of inborn errors of immunity due to abnormal sensing, inappropriate stimulation, or defective negative regulation of the type I interferon system – the so-called type I interferonopathies. There is a clear unmet clinical need for treatments in this area (as an example, see Video 1 demonstrating the progressive nature of the motor disturbance, in the absence of intellectual decline, in a young patient with a disease due to ADAR1 dysfunction). The scientific insights so far obtained suggest the possibility of therapies to block nucleic acid driven inflammation (for example, the JAK1/2 inhibitor ruxolitinib – see Video 2 adapted from Kothur et al. Neurology 2018;90:289-291), and have important implications for fundamental research into mechanisms of self / non-self discrimination and viral immunity. As such, our current work focuses on the identification and characterization of genes and proteins predisposing to these diseases, and the ways in which we might best treat them. [Videos shown with permission. See also: http://www.super-cooper.org/about-cooper]

 

 

 

 

 

Yanick Crow group

 

People

Yanick Crow Group Leader
Nathalie Blair Research Assistant
Marine Depp Research Assistant
Carolina Uggenti Post-doctoral Research Associate

Contact

yanick.crow@igmm.ed.ac.uk

Collaborations

  • Dr David Hunt, University of Edinburgh 
  • Professor Colin Smith, University of Edinburgh
  • Professor Adrian Hayday, King’s College, London 
  • Dr Gillian Rice, University of Manchester
  • Dr Darragh Duffy, Institut Pasteur, Paris
  • Professor Bénédicte Neven, Hôpital Necker Enfants Malades, Paris
  • Professor Stéphane Blanche, Hôpital Necker Enfants Malades, Paris
  • Dr Brigitte Bader-Meunier, Hôpital Necker Enfants Malades, Paris
  • Dr Marie-Louise Frémond, Institut Imagine, Paris
  • Dr Isabelle Melki, Institut Imagine, Paris

Partners and Funders

  • European Research Council
  • European Leukodystrophy Association

Scientific Themes

Genetics, Neurology, Immunology

Technology Expertise

Mendelian gene identification, Biomarker development, Clinical trials