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Staff Profile

Dr Jarmila Spegarova

Research Associate

  • Email: jarmila.spegarova@ncl.ac.uk
  • 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
Background

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


Google Scholar:

https://orcid.org/0000-0002-0710-9266




Publications
  • 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.