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10.26.2017

Researchers Receive the Louis J. Elsas Research Award in Biochemical Genetics

Three University of Miami Miller School of Medicine doctoral students and one postdoctoral researcher have been selected for a prestigious award that honors the legacy of a renowned geneticist, the late Louis J. “Skip” Elsas, M.D.

The four were named as the 2017 recipients of the Louis J. Elsas Research Award in Biochemical Genetics. Established by the Dr. John T. Macdonald Foundation in 2011, the award was created to honor the outstanding research contributions of Elsas, who was the first director of the Dr. John T. Macdonald Foundation Center for Medical Genetics, which, in 2007, became the Dr. John T. Macdonald Foundation Department of Human Genetics at the Miller School.

A prominent force in the field of biochemical genetics, Elsas was committed to translational research that could improve clinical care for patients. The award in his name supports outstanding medical students, graduate students, and postdoctoral fellows who are performing similar research relevant to biochemical genetics, in areas including biochemistry, genetics, genomics, statistical genetics, or genetic epidemiology.

“The four students we selected are doing research that exemplifies the type of study that Dr. Elsas was involved in,” said William K. Scott, Ph.D., professor and vice chair of education and training in the Dr. John T. Macdonald Foundation Department of Human Genetics. “As a pediatrician and biochemical geneticist, his interest was in seeing research done that would help understand diseases that had a biochemical, genetic component in children and adults.”

The recipients were chosen from a pool of 10 applicants, and each received a $1,250 award. The recipients are:

Dana Bis, Ph.D. candidate, Class of 2019, who was nominated for her work in Charcot-Marie-Tooth disease and related neuropathies.

David Sant, Ph.D. candidate, Class of 2019, who was nominated for his work integrating the analyses of genome-wide DNA methylation, hydroxymethylation, and the transcriptome.

Anastasia Vedenko, Ph.D. candidate, Class of 2020, who was nominated for her work in discovering important epigenetic mechanisms related to the regulation of Wnt/β-catenin signaling in human neural crest cells that could lead to the development of novel therapeutic approaches for congenital defects such as cleft lip/palate.

Luc Bertrand, Ph.D., a postdoctoral fellow, for his work in biochemical genetics with the focus on molecular neurovirology and viral genetics.

“Their daily work leads to the discovery of novel genes that explain diseases or reveal a risk profile for a disease,” said Stephan Züchner, M.D., Ph.D., professor of neurology, chair of the Dr. John T. Macdonald Foundation Department of Human Genetics, and co-director of the John P. Hussman Institute for Human Genomics. “This award is wonderful because it recognizes the important work they are doing to advance science and, ultimately, medicine.”

Elsas’ unusually broad expertise and experience, not only as a geneticist but also as professor of pediatrics, human genetics and biochemistry, and molecular biology, underscored his love for science, as well as for his patients.

For decades, he focused on demonstrating that the field of medical genetics could not only diagnose a genetic risk for disease but also prevent the disease through appropriate intervention. He went on to build a nationally renowned genetics program at Emory University, and, in 2002, joined the faculty at UM.

The move came about thanks to another generous multimillion-dollar gift from the Dr. John T. Macdonald Foundation, which allowed the University to establish a new program in medical genetics.
Elsas was recruited to lead the Miller School’s burgeoning work in the field by R. Rodney Howell, M.D., professor and chair emeritus of the Department of Pediatrics, a fellow geneticist, pediatrician, and longtime friend and colleague.

“He brought together the considerable talent already present at the Miller School of Medicine and recruited new, bright, creative geneticists and fellows in genetics,” said Howell, who chaired the Elsas award selection committee and is also a board member of the Dr. John T. Macdonald Foundation. “His work led to the development of the Dr. John T. Macdonald Department of Human Genetics and helped lay the foundation for the Hussman Institute for Human Genomics. Skip was a true pioneer in the application of genetics and genomics to the human condition.”

Before he died in 2012, Elsas also helped establish the innovative, four-year PATHWAY in Genetics and Genomics for medical students and served as the interim chair of the Department of Biochemistry.

Throughout his career, he published hundreds of scholarly articles that provided new information about many biochemical disorders in humans, including original research in an area of his life-long interest, galactosemia, a disorder that affects how the body processes a simple sugar called galactose.

He was the past president and chair of a number of prestigious national committees, including the NIH Genes, Genomes, and Genetics Integrated Review Group, and the Founding President of the Society for Inherited Metabolic Disorders. He also made strides in treating inherited biochemical disorders in newborns and was instrumental in expanding newborn screening in Florida.

In addition to Howell, the Elsas award committee included Mustafa Tekin, M.D., professor, John P. Hussman Institute for Human Genomics, director, division of clinical and translational genetics, and clinical vice chair, Dr. John T. Macdonald Foundation Department of Human Genetics; Michal Toborek, M.D., Ph.D., Leonard M. Miller Professor of Biochemistry and Molecular Biology, professor and vice chair for research, Department of Biochemistry and Molecular Biology; and Judy Schaechter, M.D., M.B.A., professor and chair, Department of Pediatrics, George E. Batchelor Endowed Chair in Pediatrics, and chief of service, Holtz Children’s Hospital, Jackson Health System.

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