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 The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a ...

and the discovery of mutations in the

alpha synuclein Alpha-synuclein (aSyn) is a protein that in humans is encoded by the ''SNCA'' gene. It is a neuronal protein involved in the regulation of synaptic vesicle trafficking and the release of neurotransmitters. Alpha-synuclein is abundant in the bra ...

gene as the first genetic cause of

Parkinson's Parkinson's disease (PD), or simply Parkinson's, is a neurodegenerative disease primarily of the central nervous system, affecting both motor and non-motor systems. Symptoms typically develop gradually and non-motor issues become more prevalen ...

disease while at the

National Institutes of Health The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...

. He is currently the CEO and Chairman of the Board of Vanda Pharmaceuticals a publicly traded company based in Washington DC which he co-founded in 2003.

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 The National Cancer Institute (NCI) coordinates the United States National Cancer Program and is part of the National Institutes of Health (NIH), which is one of eleven agencies that are part of the U.S. Department of Health and Human Services. ...

of the

. 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 St. Elizabeths Hospital is a psychiatric hospital in Southeast, Washington, D.C., Southeast Washington, D.C. operated by the District of Columbia Department of Mental Health. The hospital opened in 1855 under the name Government Hospital for th ...

in Washington DC. From 1988 to 1998 he focused his research on the study of human genetics and by developing

microsatellite A microsatellite is a tract of repetitive DNA in which certain Sequence motif, DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organ ...

genetic markers that aided in the development of generic maps for the

. 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. He joined the

National Human Genome Research Institute The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland. NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988. This Office transi ...

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,

pyknodysostosis Pycnodysostosis () is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD. History The disease was first described by Maroteaux and Lamy in 1962 at whic ...

, Ellis van Creveld syndrome, proximal symphalangism, cavernous hemangiomas, Neimann Pick Type C among others. In 1996 he published on the mapping of the first genetic locus for

Parkinson's disease Parkinson's disease (PD), or simply Parkinson's, is a neurodegenerative disease primarily of the central nervous system, affecting both motor system, motor and non-motor systems. Symptoms typically develop gradually and non-motor issues become ...

and in 1997 he reported on the identification of mutation in the alpha synuclein gene in a group of Italian and Greek pedigrees. 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 Synucleinopathies (also called α-Synucleinopathies) are neurodegenerative diseases characterised by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. There are three main types of synucle ...

. His 1997 publication on the

mutation in

families is one of the most cited publications in this field with over 10,000 citations to date.

References

{{DEFAULTSORT:Polymeropoulos, Mihael 1960 births Living people National Institutes of Health people American neuroscientists Chief executives in the pharmaceutical industry