Jump to content

Eimear Kenny

Add links
From Wikipedia, the free encyclopedia
Eimear E. Kenny
NationalityIrish
Alma materTrinity College Dublin
University of Leeds
Rockefeller University
Known forComputational genomics
Scientific career
InstitutionsIcahn School of Medicine at Mount Sinai
Massachusetts Institute of Technology
California Institute of Technology
Stanford University
WebsiteLaboratory

Eimear E. Kenny, PhD, is a researcher recognized for her work in population genetics and translation genomics, and is the Founding Director of the Institute for Genomic Health, and Endowed Chair and Professor of Genomic Health at the Icahn School of Medicine at Mount Sinai.

She is known for novel approaches to computational genomics that examine human genetic variation and its link to disease, thereby laying the groundwork for integrating AI and genomics into routine clinical care. Her work utilizes the synergy between genetics, computer science, and medicine, using genomic technologies and machine learning methods.[1] She has led multiple genomics-based clinical trials, and her work with computational approaches in clinical settings has contributed to advancing genomic medicine.[2][3]

Research

[edit]

A recipient of the Early-Career Award from the American Society of Human Genetics (USA),[4][5] Kenny, as of 2024, leads a team in genetics, computer science, and medicine, focusing on genetic ancestry, large-scale genomics, clinical trials, and genomic medicine at the Institute for Genomic Health.[6] The lab works to advance understanding of genetic ancestry and its impact on health in order to inform better clinical medicine models.[7][8] She is recognized for her work to leverage biobanks for translational genomics and her development of new genetic tests an strategies for health care management.[9][10][11] In one study, she and her colleagues investigated genetic disorders that might be under-diagnosed due to insufficient data, and found a varient in a collagen gene associated with Steel syndrome. This syndrome caused short stature and bone and joint issues and was thought to be rare. However, the study revealed it is common in individuals with Puerto Rican ancestry.[12][13] Three of Kenny's genomic medicine clinical trials assessed how to bring new technology, such as digital apps, or information, such as polygenic risk scores, into routine clinical care.[1]

In the 2010s, Kenny was instrumental in several large-scale sequencing studies, including the 1000 Genomes Project, the Exome Sequencing Project, the Genome Sequencing Project, and the Trans-Omics for Precision Medicine. In 2012, she led work that discovered the variant responsible for blond hair in Melanesia,[14][15] work that was featured in the Smithsonian NHGRI Human Genome Exhibit in Washington, D.C. In 2017, her group was one of the first to demonstrate that polygenic risk scores derived in predominantly European populations have reduced accuracy when applied in populations now widely acknowledged as a major challenge in the field of genomic risk prediction.[16][17] As of 2024, she is Principal Investigator in many NIH-funded international consortium focused on computational genomics and genomic medicine, including Electronic Medical Records and Genomics, Polygenic Risk Methods in Diverse Populations, and the Human Pangenome Reference Consortium.

In 2023, Kenny was one of the scientists who aided in a novel advancement in genomics by mapping genomic codes of a diverse group of people, shifting the science from a single genetic code into a pangenome that maps a diverse group of people. Previously, the only genetic map used in science was based on one man in Buffalo of European and African descent. The Washington Post reported that Kenny's “more diverse human genome offers hope for rare genetic diseases.”[18][19]

Kenny was co-developer and current license holder for Random Forest adMIXture (RFMix), a patented software for inferring continental and sub-continental ancestry at genomic loci.[20]

Education and career

[edit]

Kenny graduated from Trinity College Dublin with a BA in Biochemistry in 1999 and did a masters in Bioinformatics at Leeds University. She received her PhD in Computational Genomics at Rockefeller University, and did her post-doctoral work in the lab of Dr. Carlos D. Bustamante at Stanford University.[21][22]

Academic appointments

[edit]

As of 2024, at Mount Sinai, she serves as the Endowed Chair and Professor of Genomic Health, Professor at the Department of Medicine and Professor at the Department of Genetics and Genomic Sciences. Since 2018 she has served as the Founding Director of the Institute for Genomic Health, and since 2022 she also serves as the Founding Director of the Center for Translational Genomics. She is also the Director of Translational Research, Division for Genomic Medicine.

Former appointments include Assistant Professor at the Department of Genetics and Genomic Sciences and Member at The Charles Bronfman Institute of Personalized Medicine, both at Mount Sinai. She was also Bioinformatics Programmer at the California Institute of Technology, and research assistant at the Massachusetts Institute of Technology.[23]

Publications

[edit]

As of 2024, Kenny is an advisor to Cell Genomics.[24] Google Scholar reports 50,623 citations, an h-index of 66 and an i10-index of 130. The five most-cited articles she contributed to are:

  • 1000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. A global reference for human genetic variation. Nature. 2015 Oct 1;526(7571):68–74. doi: 10.1038/nature15393. PMID 26432245; PMCID: PMC4750478. Cited by 14847[25]
  • 1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012 Nov 1;491(7422):56–65. doi: 10.1038/nature11632. PMID 23128226; PMCID: PMC3498066. Cited by 8287[26]
  • Jacob A. Tennessen et al. Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes.Science337,64–69(2012).DOI:10.1126/science.1219240 Cited by 1886[27]
  • Taliun, D., Harris, D.N., Kessler, M.D. et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature 590, 290–299 (2021). https://doi.org/10.1038/s41586-021-03205-y Cited by 1369[28]
  • Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, Genovese G, Loh PR, Bhatia G, Do R, Hayeck T, Won HH; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study; Kathiresan S, Pato M, Pato C, Tamimi R, Stahl E, Zaitlen N, Pasaniuc B, Belbin G, Kenny EE, Schierup MH, De Jager P, Patsopoulos NA, McCarroll S, Daly M, Purcell S, Chasman D, Neale B, Goddard M, Visscher PM, Kraft P, Patterson N, Price AL. Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Am J Hum Genet. 2015 Oct 1;97(4):576–92. doi: 10.1016/j.ajhg.2015.09.001. PMID 26430803; PMCID: PMC4596916. Cited by 1327[29]

References

[edit]
  1. ^ a b "Eimear Kenny". AGBT. Retrieved 2024-06-09.
  2. ^ "Who We Are". Population Genomic Health. Retrieved 2024-06-09.
  3. ^ "Updated DNA map better reflects human diversity". 2023-05-10. Retrieved 2024-06-10.
  4. ^ Anderson, William (2022-07-20). "ASHG Honors Eimear Kenny, PhD with the 2022 Early-Career Award". ASHG. Retrieved 2024-06-10.
  5. ^ Md 20852. "Past Award Recipients". ASHG. Retrieved 2024-06-09.{{cite web}}: CS1 maint: numeric names: authors list (link)
  6. ^ "Mount Sinai Hospital – EMERGE". Retrieved 2024-06-10.
  7. ^ "Eimear E. Kenny, Assistant Professor – eMedEvents". www.emedevents.com. Retrieved 2024-06-09.
  8. ^ "Dr. Eimear Kenny – H3Africa". Retrieved 2024-06-09.
  9. ^ "Mount Sinai Moving Genomics Into Clinical Care". 2021-05-19. Retrieved 2024-06-10.
  10. ^ "Genomic Data – Not Race – May Enhance Chronic Disease Management". 2021-04-16. Retrieved 2024-06-10.
  11. ^ "Genetic ancestry versus race can provide specific, targeted insights to predict and treat many diseases". 2021-04-15. Retrieved 2024-06-10.
  12. ^ "Improving diversity in the genomics field". Harvard School of Public Health. 2023-10-26. Retrieved 2024-06-10.
  13. ^ "Eimear Kenny, PhD – AMP2022". amp22.amp.org. Retrieved 2024-06-09.
  14. ^ "The History of Black People with Blond Hair". Newsone. 2024-05-19. Retrieved 2024-06-10.
  15. ^ "Blond Hair of Melanesians Evolved Differently Than Those of Europeans". SciTechDaily. 2012-05-07. Retrieved 2025-05-05.
  16. ^ Martin, A. R.; Gignoux, C. R.; Walters, R. K.; Wojcik, G. L.; Neale, B. M.; Gravel, S.; Daly, M. J.; Bustamante, C. D.; Kenny, E. E. (2023-05-10). "Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations". American Journal of Human Genetics. 100 (4): 635–649. doi:10.1016/j.ajhg.2017.03.004. PMC 5384097. PMID 28366442.
  17. ^ Martin, Alicia R.; Gignoux, Christopher R.; Walters, Raymond K.; Wojcik, Genevieve L.; Neale, Benjamin M.; Gravel, Simon; Daly, Mark J.; Bustamante, Carlos D.; Kenny, Eimear E. (2017-04-06). "Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations". American Journal of Human Genetics. 100 (4): 635–649. doi:10.1016/j.ajhg.2017.03.004. ISSN 1537-6605. PMC 5384097. PMID 28366442.
  18. ^ "Scientists announce rough draft of human pangenome". NBC News. 2023-05-10. Retrieved 2024-06-10.
  19. ^ Press, LAURA UNGAR Associated (2023-05-10). "'Pangenome,' a new DNA reference, will reflect human diversity". Los Angeles Times. Retrieved 2024-06-10.
  20. ^ Maples, Brian K.; Gravel, Simon; Kenny, Eimear E.; Bustamante, Carlos D. (2013-08-08). "RFMix: a discriminative modeling approach for rapid and robust local-ancestry inference". American Journal of Human Genetics. 93 (2): 278–288. doi:10.1016/j.ajhg.2013.06.020. ISSN 1537-6605. PMC 3738819. PMID 23910464.
  21. ^ "STAGE ISSS: Eimear Kenny". canssiontario.utoronto.ca. Retrieved 2024-06-10.
  22. ^ "Eimear Kenny | Irish America". 2022-10-05. Retrieved 2024-06-10.
  23. ^ "ORCID". orcid.org. Retrieved 2024-06-10.
  24. ^ "Advisory Board, Cell Genomics". Cell Genomics. Retrieved June 9, 2024.
  25. ^ "A global reference for human genetic variation". scholar.google.com. Retrieved 2024-06-09.
  26. ^ "An integrated map of genetic variation from 1,092 human genomes". scholar.google.com. Retrieved 2024-06-09.
  27. ^ Tennessen, Jacob A.; Bigham, Abigail W.; O’Connor, Timothy D.; Fu, Wenqing; Kenny, Eimear E.; Gravel, Simon; McGee, Sean; Do, Ron; Liu, Xiaoming; Jun, Goo; Kang, Hyun Min; Jordan, Daniel; Leal, Suzanne M.; Gabriel, Stacey; Rieder, Mark J. (2012-07-06). "Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes". Science. 337 (6090): 64–69. Bibcode:2012Sci...337...64T. doi:10.1126/science.1219240. ISSN 0036-8075. PMC 3708544. PMID 22604720.
  28. ^ "Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program". scholar.google.com. Retrieved 2024-06-09.
  29. ^ "Modeling linkage disequilibrium increases accuracy of polygenic risk scores". scholar.google.com. Retrieved 2024-06-09.
[edit]


Retrieved from "https://en.wikipedia.org/w/index.php?title=Eimear_Kenny&oldid=1299538757"