MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Yanick Crow Research Group

Genetic disorders of human neurological and immune function

Professor Yanick Crow
Professor Yanick Crow

Research in a Nutshell

Yanick Crow is a clinician scientist, with the efforts of the Crow group driven by an interest in human diseases and a determination to improve their diagnosis and treatment.

The laboratory works across two themes: one relating to Aicardi-Goutières syndrome (AGS) and other disorders associated with enhanced type I interferon signalling (the so-called type I interferonopathies); and the second dedicated to an understanding of the causes of calcium in the brain (intracranial calcification), with a particular focus on two rare genetic conditions - leukoencephalopathy with calcifications and cysts (LCC) and Coats plus (CP).

More information about these projects can be found by following the links below.


Aicardi-Goutières syndrome and the type I interferonopathies


LCC and Coats plus

Yanick Crow group



Yanick Crow Group Leader
Carolina Uggenti Post-doctoral Research Associate
Andrew Badrock Post-doctoral Research Associate
Marie-Therese El-Daher Post-doctoral Research Associate
Fraser Sutherland Research Assistant
Freddie Blundell Research Assistant
Gaofeng Zhu PhD Student (Marie-Curie INFLANET consortium)



  1. Crow YJ *, Stetson DB. The type I interferonopathies: 10 years on. Nature Reviews Immunology 2021;20:1-13.
  2. 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, Garcia-Pérez J, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze J-F, 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, Marques Lorenço C, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H, 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 Nature Genetics 52, 1364-1372 (2020).
  3. Lepelley A, Martin-Niclós MJ, Le Bihan M, Marsh JA, Uggenti C, Rice GI, Bondet V, Duffy D, Hertzog J, Rehwinkel J, Amselem S, Boulisfane-El Khalifi S, Brennan M, Carter E, Chatenoud L, Chhun S, Coulomb l'Hermine A, Depp M, Legendre M, Mackenzie KJ, Marey J, McDougall C, McKenzie KJ, Molina TJ, Neven B, Seabra L, Thumerelle C, Wislez M, Nathan N, Manel N, Crow YJ, * Frémond ML. Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signalling. Journal of Experimental Medicine 217, e20200600 (2020).
  4. Badrock AP, Uggenti C, Wacheul L, Crilly S, Jenkinson EM, Rice GI, Kasher PR, Lafontaine DLJ, Crow YJ, O'Keefe RT. Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy With Calcifications and Cysts. American Journal of Human Genetics 106, 694-706 (2020).
  5. Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, Zeef LAH, Rozenberg F, Bondet V, Duffy D, Llibre A, Baek J, Sambe MN, Henry E, Jolaine V, Barnerias C, Barth M, Belot A, Cances C, Debray FG, Doummar D, Frémond ML, Kitabayashi N, Lepelley A, Levrat V, Melki I, Meyer P, Nougues MC, Renaldo F, Rodero MP, Rodriguez D, Roubertie A, Seabra L, Uggenti C, Abdoul H, Treluyer JM, Desguerre I, Blanche S, Crow YJ. * Reverse transcriptase inhibitors in Aicardi-Goutières syndrome. New England Journal of Medicine 379, 2275-7 (2018).

Full publication list can be found on Research Explorer: Yanick Crow — University of Edinburgh Research Explorer


  • Dr David Hunt, University of Edinburgh 
  • Dr Gillian Rice, University of Manche
  • Dr Darragh Duffy, Institut Pasteur, Paris
  • Dr Marie-Louise Frémond, Institut Imagine, Paris
  • Dr Alice Lepelley, Institut Imagine, Paris
  • Dr Konstantin Sparrer, University of Ulm
  • Professor Richard Gibbons, University of Oxford

Partners and Funders

  • Medical Research Council
  • European Research Council

Scientific Themes

Genetics, Neurology, Immunology

Technology Expertise

Mendelian gene identification, Biomarker development, Clinical trials