Mihael Polymeropoulos

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Mihael H. Polymeropoulos (born February 27, 1960) is a Greek-American physician and scientist. He is known for his work in the Human Genome Project and the discovery of mutations in the alpha synuclein gene as the first genetic cause of Parkinson's disease while at the National Institutes of Health. [1] [2] [3] He is currently the CEO and Chairman of the Board of Vanda Pharmaceuticals [4] a publicly traded company based in Washington DC which he co-founded in 2003. [5]

Early scientific career and research accomplishments

After graduating from the University of Patras School of Medicine at age 23, he pursued his passion for molecular genetics research and joined the laboratory of Dr Sankar Adhya at the National Cancer Institute of the National Institutes of Health. At the NCI he studied the molecular regulation of transcription of the bacterial galactose operon of E. Coli through the interaction of the galactose repressor molecule with the two galactose operator sites. He continued his training and completed a residency in Psychiatry at the National Institutes of Mental Health, St Elizabeth's Hospital in Washington DC.

From 1988 to 1998 he focused his research on the study of human genetics and by developing microsatellite genetic markers that aided in the development of generic maps for the Human Genome Project. He co-founded the IMAGE consortium an international consortium for the identification and mapping of all human genome transcripts with Charles Auffray, Bento Soares and Gregg Lennon. [6] [7]

He joined the National Human Genome Research Institute where he concentrated on the identification and mapping of human disease. He identified the genetic location of numerous genetic disorders including the gene for Wolfram disorder, [8] pyknodysostosis, [9] Ellis van Creveld syndrome, [10] proximal symphalangism, [11] cavernous hemangiomas, [12] Neimann Pick Type C [13] among others. In 1996 he published on the mapping of the first genetic locus for Parkinson's disease and in 1997 he reported on the identification of mutation in the alpha synuclein gene in a group of Italian and Greek pedigrees [1] [2] . [14] This discovery ushered a new era in the understanding of the molecular underpinnings of Parkinson's disease and other neurodegenerative disorders collectively now known as synucleinopathies. His 1997 publication on the alpha synuclein mutation in Parkinson's disease families is one of the most cited publications in this field with over 10,000 citations to date. [15]

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References

  1. 1 2 Polymeropoulos, Mihael H.; Lavedan, Christian; Leroy, Elisabeth; Ide, Susan E.; Dehejia, Anindya; Dutra, Amalia; Pike, Brian; Root, Holly; Rubenstein, Jeffrey; Boyer, Rebecca; Stenroos, Edward S.; Chandrasekharappa, Settara; Athanassiadou, Aglaia; Papapetropoulos, Theodore; Johnson, William G. (1997-06-27). "Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease". Science. 276 (5321): 2045–2047. doi:10.1126/science.276.5321.2045. ISSN   0036-8075. PMID   9197268.
  2. 1 2 "NIH Researchers Find First Parkinson's Disease Gene". www.genome.gov. Retrieved 2024-11-11.
  3. ↑ Kresina, Thomas F.; Branch, Andrea D. (2000-10-20). Molecular Medicine and Gene Therapy: An Introduction. pp. 1–24. doi:10.1002/0471223875.ch1. ISBN   978-0-471-39188-3.{{cite book}}: |journal= ignored (help)
  4. ↑ "Vanda Pharmaceuticals Inc. | A Global Biopharmaceutical Company". www.vandapharma.com.
  5. ↑ "Vanda Pharmaceuticals Inc. | A Global Biopharmaceutical Company". www.vandapharma.com. Retrieved 2024-11-08.
  6. ↑ Environment, United States Congress House Committee on Science Subcommittee on Energy and (1998). The Human Genome Project: How Private Sector Developments Affect the Government Program : Hearing Before the Subcommittee on Energy and Environment of the Committee on Science, U.S. House of Representatives, One Hundred Fifth Congress, Second Session, June 17, 1998. U.S. Government Printing Office. ISBN   978-0-16-057661-4.
  7. ↑ Human genome. 1993 Program report (Report). Office of Scientific and Technical Information (OSTI). 1994-03-01. doi:10.2172/10139400.
  8. ↑ Polymeropoulos, Mihael H.; Swift, Ronnie Gorman; Swift, Michael (September 1994). "Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4". Nature Genetics. 8 (1): 95–97. doi:10.1038/ng0994-95. ISSN   1546-1718. PMID   7987399.
  9. ↑ Polymeropoulos, Mihael H.; Ortiz De Luna, Rosa Isela; Ide, Susan E.; Torres, Rosarelis; Rubenstein, Jeffrey; Francomano, Clair A. (June 1995). "The gene for pycnodysostosis maps to human chromosome 1cen–q21". Nature Genetics. 10 (2): 238–239. doi:10.1038/ng0695-238. ISSN   1546-1718. PMID   7663522.
  10. ↑ Polymeropoulos, Mihael H.; Ide, Susan E.; Wright, Michael; Goodship, Judith; Weissenbach, Jean; Pyeritz, Reed E.; Da Silva, Elias O.; Ortiz De Luna, Rosa Isela; Francomano, Clair A. (1996-07-01). "The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16". Genomics. 35 (1): 1–5. doi:10.1006/geno.1996.0315. ISSN   0888-7543. PMID   8661097.
  11. ↑ Polymeropoulos, Mihael H.; Poush, Jamie; Rubenstein, Jeffrey R.; Francomano, Clair A. (1995-05-20). "Localization of the Gene (SYM1) for Proximal Symphalangism to Human Chromosome 17q21-q22". Genomics. 27 (2): 225–229. doi:10.1006/geno.1995.1035. ISSN   0888-7543. PMID   7557985.
  12. ↑ Polymeropoulos, M. H.; Hurko, O.; Hsu, F.; Rubenstein, J.; Basnet, S.; Lane, K.; Dietz, H.; Spetzler, R. F.; Rigamonti, D. (March 1997). "Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican-American descent". Neurology. 48 (3): 752–757. doi:10.1212/WNL.48.3.752. ISSN   0028-3878. PMID   9065560.
  13. ↑ Carstea, E D; Polymeropoulos, M H; Parker, C C; Detera-Wadleigh, S D; O'Neill, R R; Patterson, M C; Goldin, E; Xiao, H; Straub, R E; Vanier, M T (March 1993). "Linkage of Niemann-Pick disease type C to human chromosome 18". Proceedings of the National Academy of Sciences. 90 (5): 2002–2004. Bibcode:1993PNAS...90.2002C. doi: 10.1073/pnas.90.5.2002 . ISSN   0027-8424. PMC   46008 . PMID   8446622.
  14. ↑ Polymeropoulos, Mihael H. (2019). "Revisiting the History of the 1997 Alpha-Synuclein Discovery in Parkinson's Disease". Journal of Parkinson's Disease. 9 (2): 443–444. doi:10.3233/JPD-191569. ISSN   1877-718X. PMID   31127734.
  15. ↑ "Mihael H. Polymeropoulos". scholar.google.com. Retrieved 2024-11-08.
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