Olena Korvatska

Personal Statement

My research interests are focused on gene discovery and elucidation of molecular pathways underlying molecular mechanisms in cognitive decline caused by neurodegeneration and protein aggregation disorders. My current research projects involve both Mendelian (X-linked Parkinson and Spasticity) and complex disorders (such as Alzheimer’s disease).

We analyze familial forms of diseases using exome sequencing and linkage mapping approaches. Candidate variants are validated using live patient cells and post-mortem tissue. Further functional insights are gained by generation of model cell lines and/or transgenic mice. The strategy allowed uncovering various disease mechanisms central to pathogenesis: protein misfolding and aggregation, deletion/duplication of genic regions and tissue-specific alternative splicing.

Department Affiliations

Recent Publications

Functional characterization of hiPSCs-derived glial cells and neurons from patients harboring a TREM2 loss of function mutation.
(2021 Dec)
Alzheimers Dement 17 Suppl 2(): e058712
Filipello F, You SF, Martinez R, Korvatska O, Raskind WH, Mahali S, Ghezzi L, Wandy B, Cella M, Piccio L, Karch CM

Novel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brain.
(2021 Nov)
J Leukoc Biol 110(5): 829-837
Kiianitsa K, Kurtz I, Beeman N, Matsushita M, Chien WM, Raskind WH, Korvatska O

Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain.
(2020)
Front Immunol 11(): 559342
Korvatska O, Kiianitsa K, Ratushny A, Matsushita M, Beeman N, Chien WM, Satoh JI, Dorschner MO, Keene CD, Bammler TK, Bird TD, Raskind WH

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
(2015 Dec 8)
Neurology 85(23): 2026-35
Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH

R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.
(2015 Aug)
JAMA Neurol 72(8): 920-7
Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, Bird TD

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