Genetic disorders of human neurological and immune function Image Professor Yanick Crow Research in a NutshellYanick 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 Image People Yanick CrowGroup LeaderCarolina UggentiPost-doctoral Research AssociateMarie-Therese El-DaherPost-doctoral Research AssociateAndrew BadrockPost-doctoral Research AssociateAndreas FellasPost-docFraser SutherlandResearch AssistantEve WhiteTechnicianGaofeng ZhuPhD Student (Marie-Curie INFLANET consortium)Contactyanick.crow@ed.ac.ukPublicationsHuman life within a narrow range: The lethal ups and downs of type I interferons.Crow YJ, Casanova JL.Sci Immunol. 2024 Jul 5;9(97):eadm8185. doi: 10.1126/sciimmunol.adm8185. Epub 2024 Jul 5. PMID: 38968338Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, Masson C, Rice GI, Frémond ML, Lepelley A, Marsh JA, Crow YJ.J Clin Immunol. 2024 Feb 7;44(2):60. doi: 10.1007/s10875-024-01660-6.PMID: 38324161Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.Zhu G, Badonyi M, Franklin L, Seabra L, Rice GI, Anne-Boland-Auge, Deleuze JF, El-Chehadeh S, Anheim M, de Saint-Martin A, Pellegrini S, Marsh JA, Crow YJ, El-Daher MT.J Clin Immunol. 2023 May;43(4):808-818. doi: 10.1007/s10875-023-01445-3. Epub 2023 Feb 8.PMID: 36753016Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Õunap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP.Am J Med Genet A. 2021 Jan;185(1):15-25. doi: 10.1002/ajmg.a.61907. Epub 2020 Oct 7.PMID: 33029936cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.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.Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23.PMID: 33230297Full publication list can be found on Research Explorer: Yanick Crow — University of Edinburgh Research ExplorerCollaborationsDr David Hunt, University of Edinburgh Dr Gillian Rice, University of MancheDr Darragh Duffy, Institut Pasteur, ParisDr Marie-Louise Frémond, Institut Imagine, ParisDr Alice Lepelley, Institut Imagine, ParisDr Konstantin Sparrer, University of UlmProfessor Richard Gibbons, University of OxfordPartners and FundersMedical Research CouncilEuropean Research CouncilScientific ThemesGenetics, Neurology, ImmunologyTechnology ExpertiseMendelian gene identification, Biomarker development, Clinical trials This article was published on 2024-09-23