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

Novel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brain.
(2021 Jun 1)
J Leukoc Biol
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.
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

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
(2013 Aug 15)
Hum Mol Genet 22(16): 3259-68
Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH

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