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Miller School Scientist Wins Genetics Award

11/17/2008

A paper published by genetic researchers at the Miami Institute for Human Genomics at the Miller School of Medicine received the prestigious Cotterman Award during the annual meeting of the American Society of Human Genetics on  November 15.  Each year, the editorial board of The American Journal of Human Genetics selects two articles that best represent outstanding contributions to the field of genetics and in which the first author was either a pre or postdoctoral trainee and a member of the American Society of Human Genetics.

Gaofeng Wang, Ph.D., now an assistant professor in the Dr. John T. Macdonald Foundation Department of Human Genetics, served as first author on the  paper titled “Variation in the miRNA-433 Binding Site of FGF20 Confers Risk for Parkinson Disease by Overexpression of α-Synuclein” which was published in the February issue of the journal.  The FGF20 gene that produces a protein of the same name was previously identified as a risk factor for PD by research teams at the Morris K. Udall Parkinson Disease Research Center of Excellence at the Miller School and the Miami Institute for Human Genomics.

Early in life FGF20 is necessary for the development of dopamine neurons, which interestingly are the same neurons whose death causes PD later in life.  Scientists at the Miami Institute for Human Genomics found that variations in the FGF20 gene were associated with either higher or lower risk for PD.   The variations affect production of the FGF20 protein and they expected to find that increased presence of FGF20 reduced risk for PD, given its importance in brain development of dopamine neurons.  Surprisingly, an abundance of FGF20 later in life is detrimental to brain function and therefore increased risk for PD.  This appears to be due to the fact the increased production of FGF20 also leads to the increased production of another important brain protein, alpha-synuclein.  Abnormal levels of the protein alpha-synuclein, caused by extra copies of  the alpha-synuclein gene, is a known cause for PD.  Extra copies of the alpha-synuclein gene, however, are present in only a very small number of people worldwide.

Dr. Wang, recipient of the award and first author on the paper is grateful for the recognition affords the publication because he feels that “this kind of discovery will create new avenues for understanding the influences gene variations can have on human disease.”  According to Dr. Wang, “We knew FGF20 was a risk factor for PD, but we weren’t sure how it was raising an individual’s risk.  Now that we can understand how it works, maybe we can do something to counteract the effect.”

Jeffery Vance, M.D., Ph.D., professor and chairman of the Dr. John T. Macdonald Foundation Department of Human Genetics served as senior author on the paper.  “The Cotterman Award is wonderful recognition for Gaofeng who has merged his extensive background in cellular physiology with human genetics.  It was ideas about alpha synuclein that fueled this approach.”  Dr. Vance is the principal investigator of the Morris K. Udall Parkinson Disease Research Center of Excellence at the Miller School.  The research that led to the FGF20 finding was funded by the Udall Center.

Other collaborators from the Dr. John T. Macdonald Department of Human Genetics, the Miami Institute for Human Genomics, and the Miami Udall Center include William Scott, Ph.D., Eden Martin, Ph.D., and Stephan Zuchner, M.D.   Margaret Pericak-Vance, Ph.D., director of the Miami Institute of Human Genomics commented on the importance of the award and the recognition it confers.  “American Journal of Human Genetics is one of the top genetics publications.  This award should be extremely gratifying for Dr. Wang because it is a vote of confidence from your peers.”