Summary
Our research focuses on understanding the molecular basis of autoimmune conditions in haematology, particularly immune thrombocytopenia (ITP), a condition leading to premature destruction of platelets.
We combine genetic and genomic analysis of individuals with extreme phenotypes, CRISPR-based in vitro functional validation, and parallel ‘omic' approaches to define novel pathways regulating autoimmunity (eg Afzaku B et al Nat Immunol 2017 18:813-823).
Publications
Journals
Kuter DJ, Efraim M, Mayer J, et al., 2022, Rilzabrutinib, an Oral BTK Inhibitor, in Immune Thrombocytopenia, New England Journal of Medicine, Vol:386, ISSN:0028-4793, Pages:1421-1431
Grainger J, Bussel JB, Tarantino MD, et al., 2022, A Single-Arm, Long-Term Efficacy and Safety Study of Subcutaneous Romiplostim in Children with Immune Thrombocytopenia., Blood Adv
Joyce KE, Onabanjo E, Brownlow S, et al., 2022, Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variants, Blood Advances, ISSN:2473-9529
Chauss D, Freiwald T, McGregor R, et al., 2021, Autocrine vitamin D signaling switches off pro-inflammatory programs of T(H)1 cells, Nature Immunology, Vol:23, ISSN:1529-2908, Pages:62-+
Bye AP, Hoepel W, Mitchell JL, et al., 2021, Aberrant glycosylation of anti-SARS-CoV-2 spike IgG is a prothrombotic stimulus for platelets, Blood, Vol:138, ISSN:0006-4971, Pages:1481-1489