Emma Haapaniemi
Emma Haapaniemi
Dr. Haapaniemi is a group leader at the Centre for Molecular Medicine Norway (NCMM) and is associated with the K.G. Jebsen Center for Neurodevelopmental Disorders. She has a highly relevant and successful research career in studies of rare gene variants in immune related disorders. At the Jebsen Centre she will be particularly involved in deep phenotyping of individuals with immune disorders that may affect brain development.
Haapaniemi is the group leader of the Haapaniemi Lab: Better therapies for rare immune diseases. The group aim to optimize the CRISPR-Cas gene editing technology as a gene therapy in these diseases, and stratify the existing therapies – such as biologic drugs and small molecule inhibitors – to better target the underlying molecular pathways that malfunction in individual patients.
Position
Group leader of the Haapaniemi Lab (UiO profile)
Selected publications
Haapaniemi, E., Botla, S., Persson, J. et al. CRISPR–Cas9 genome editing induces a p53-mediated DNA damage response. Nat Med 24, 927–930 (2018). https://doi.org/10.1038/s41591-018-0049-z
Keskitalo, S.*, Haapaniemi, E.M.*, Glumoff, V. et al. Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease. npj Genom. Med. 4, 14 (2019). https://doi.org/10.1038/s41525-019-0088-5
Sharapova SO, Haapaniemi E, Sakovich IS, Kostyuchenko LV, Donkó A, Dulau-Florea A, Malko O, Bondarenko AV, Stegantseva MV, Leto TL, Uygun V, Karasu GT, Holland SM, Hsu AP, Aleinikova OV. Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections. Clin Immunol. 2019 Aug;205:1-5. doi: 10.1016/j.clim.2019.05.003. Epub 2019 May 7. PMID: 31071452.