معرفی
Eirik Frengen is a Professor at the Department of Medical Genetics, Oslo University Hospital (OUS). His research focuses on identifying disease-causing genomic variations in patients with rare neurological diseases and syndromes, using cell cultures and model organisms to elucidate molecular disease mechanisms. He has been employed at the University of Oslo (UiO) since 2005 and served as Section Head (2010-2017) and Senior Researcher (2017->) at OUS. He holds a Dr.scient degree (1993) and Cand.scient (1989) in molecular and general genetics from UiO.
His research involves characterizing genomic variations in rare neurological conditions and connecting gene defects to clinical features. He has supervised 11 PhD students (7 as main supervisor), 3 research students, and 23 MSc students. His publications span topics like ciliopathies, leukodystrophy, intellectual disability, and genomic deletions/duplications.
Recent articles (2024-2019) explore NAV3 variants in developmental delay, STIM1 mutations in Stormorken syndrome, and genomic mechanisms in Strømme syndrome. Keywords include Genetics, Neurology, Molecular Biology, and Developmental Disorders. Subfields cover topics like intellectual disability, microcephaly, calcium signaling, and ciliopathy.
