Olena Korvatska, Ph.D.

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

Other Affiliations

UW Alzheimer’s Disease Research Center

Recent Publications

TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
(2024 Jan 16)
Brain
Kiianitsa K, Lukes ME, Hayes BJ, Brutman J, Valdmanis PN, Bird TD, Raskind WH, Korvatska O

NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.
(2023 Sep 15)
J Neurol Sci 452(): 120763
Korvatska O, Bucks SA, Yoda RA, Nolan A, Dorschner MO, Tsuang D, Jayadev S, Raskind WH, Bird TD

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
(2023 Jun)
Acta Neuropathol 145(6): 749-772
Filipello F, You SF, Mirfakhar FS, Mahali S, Bollman B, Acquarone M, Korvatska O, Marsh JA, Sivaraman A, Martinez R, Cantoni C, De Feo L, Ghezzi L, Minaya MA, Renganathan A, Cashikar AG, Satoh JI, Beatty W, Iyer AK, Cella M, Raskind WH, Piccio L, Karch CM

Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.
(2022 Aug)
Parkinsonism Relat Disord 101(): 31-38
Edelman WC, Kiianitsa K, Virmani T, Martinez RA, Young JE, Keene CD, Bird TD, Raskind WH, Korvatska O

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

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