Neurodegenerative and neurodevelopmental diseases affect millions of people around the globe. Scientists have thought many of these diseases may result from disruptions or failures in the mitochondria, a specialized cellular structure often referred to as the “powerhouse of the cell.”
Mitochondria play a key role in metabolism in cells. Metabolism is a series of biochemical reactions essential for all living organisms. It provides energy and the building blocks for healthy cells. As we age, we lose some of these capabilities of mitochondria, and the quality of our cells declines. This has been implicated in many diseases, including neurodegenerative diseases like Alzheimer’s and Parkinson’s and even cancer.
Our long-term goal is to learn how cells maintain mitochondrial structure and metabolism, how failures in that system may contribute to human pathologies and, ultimately, to find treatments for those diseases.
To do this, we use common fruit flies called Drosophila as a disease model. Because fruit flies share approximately 75 percent of a human’s disease genes, they are near-perfect tools for studying conditions that afflict people. We “humanize” these flies by using state-of-the-art gene editing tools. By studying how their mitochondrial dysfunction contributes to defects in flies, we can get hints into the root causes for human diseases.
My lab also focuses on identifying novel and previously unknown human diseases using the newest technologies in Drosophila. In collaboration with human geneticists, I discovered mitochondrial genes whose mutations cause neuronal and metabolic dysfunction in both flies and humans. This work shows that fruit flies serve as an excellent model system for discovering novel disease genes from human patient data. Using these tiny flies, we can continue to identify new human diseases, perform disease modeling in flies, and understand the mechanisms of their pathogenesis.
B.Sc., Yonsei University, South Korea, 1997
M. Sc., Yonsei University, South Korea, 1999
Ph.D., Johns Hopkins University School of Medicine, 2011
Visiting Research Scientist, Pacific Northwest Diabetes Research Institute, Seattle. Principal Investigator: Michael Kahn, Ph.D., 2001
Senior Research Scientist, Central Research Institute, Choongwae Pharmaceutical Company, South Korea, 1999-2004
Postdoctoral Research Fellow, Howard Hughes Medical Institute, Department of Molecular and Human Genetics, Baylor College of Medicine, Principal Investigator: Hugo J. Bellen, D.V.M., Ph.D., 2011-2016
Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine, 2016-2017
Honors and Awards
Korea Science and Engineering Foundation Fellowship, 2004
H.A. and Mary K. Chapman Young Investigator Fellowship, 2005
Best Oral Presentation Award, 14th Korean-American Biomedical Scientists Symposium, 2015
Oral Presentation Award, 15th Korean-American Biomedical Scientists Symposium, 2016
Best Postdoctoral Publication Award, Department of Molecular and Human Genetics, Baylor College of Medicine, 2017
Joined OMRF scientific staff in 2017
Whittle EF, Chilian M, Karimiani EG, Progri H, Buhas D, Kose M, Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H, Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E, Rahman S, Maroofian R, Yoon WH, Carroll CJ. Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. Genet Med, 2022 December, PMID: 36520152
Chilian M, Vargas Parra K, Sandoval A, Ramirez J, Yoon WH. CRISPR/Cas9-mediated tissue-specific knockout and cDNA rescue using sgRNAs that target exon-intron junctions in Drosophila melanogaster. STAR Protoc 3:101465, 2022 June, PMID: 35719725, PMCID: PMC9204798
Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A, SYNaPS Study Group., University of Washington Center for Mendelian Genomics., Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. Am J Hum Genet, 2021 November, PMID: 34800363, PMCID: PMC8715183
Ola´hova M, Yoon WH, ThompsonK , Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Fre´sard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BJM, Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz DO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HG, Bernstein JA, WheelerMT. Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder. The American Journal of Human Genetics 102 (3), 494-504 s 102, 2018. PMID: 29478781, PMCID: PMC6117612
Yoon WH, Sandoval H, Nagarkar-Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ. Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 4;93(1):115-131. Epub 2016 Dec 22. PMID: 28017472, PMCID: PMC5242142
Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 6;99(4):831-845. Epub 2016 Sep 15. PMID: 27640307, PMCID: PMC5065660
Montell DJ, Yoon WH, Starz-Gaiano M. Group choreography: mechanisms orchestrating the collective movement of border cells. Nat Rev Mol Cell Biol. 2012 Oct;13(10):631-45. PMID: 23000794 PMCID: PMC4099007
Yoon WH, Meinhardt H, Montell DJ. miRNA-mediated feedback inhibition of JAK/STAT morphogen signalling establishes a cell fate threshold. Nat Cell Biol. 2011 Aug 21;13(9):1062-9. PMID: 21857668 PMCID: PMC3167036