Staff Profile
Dr Jarmila Spegarova
Research Associate
- Email: [email protected]
- Address: Primary Immunodeficiency Group
Translational and Clinical Research Institute
3rd Floor Leech Building
Medical School
Newcastle University
Framlington Place
Newcastle upon Tyne
NE2 4HH
UK
I am a post-doc in the Primary Immunodeficiency group led by Prof. Sophie Hambleton. We focus on identifying novel genes, responsible for rare primary immunodeficiency diseases, using next generation sequencing. Primarily for a diagnostic use, and further investigations exploring the priciple of the disease caused by specific gene variant.
I am involved in a project studying the role of loss-of-function mutation causing lymphoproliferation and autoimmunity in children, using in vitro disease model such as induced-pluripotent stem cells and their hematopoietic differentiation.
We also use mass cytometry for immunophenotyping of various immunodeficiencies, alongside with single cell RNA sequencing.
Qualifications
Ph.D. in Biochemistry and Pathobiochemistry at 1st Faculty of Medicine, Charles University in Prague, Czechia
MSc. in Biochemistry at Faculty of Science, University of P.J. Safarik in Kosice, Slovakia
Previous Positions and Research
Research Associate in Laboratory of Cell Signalling and Apoptosis, Institute of Molecular Genetics AS CR, Prague: elucidation of biochemical and molecular mechanism of apotosis, new enhancers of TRAIL-resistant colorectal cell lines
Research Assistant in Laboratory of Cancer Cell Biology, Institute of Biochemistry and Experimental Oncology, 1st Faculty of Medicine, Charles University in Prague: to study the role of dipeptidyl peptidases in human brain tumours
Teaching Assistant at 1st Faculty of Medicine, Charles University in Prague
https://orcid.org/0000-0002-0710-9266
- Spegarova JS, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J, Rensing-Ehl A, Ehl S, Rieux-Laucat F, Cargo C, Griffin H, Mikulasova A, Acres M, Morgan NV, Poulter JA, Sheridan EG, Chetcuti P, O'Riordan S, Anwar R, Carter C, Przyborski S, Windebank K, Cant AJ, Lako M, Bacon CM, Savic S, Hambleton S. Germline TET2 loss-of-function causes childhood immunodeficiency and lymphoma. Blood 2020, 136(9), 1055-1066.