3-rd International Conference on
FMR1 PREMUTATION
JERUSALEM, ISRAEL
September 5-7 2017

Prof. Ada E. Yonath
Nobel Laureate in Chemistry, 2009

The Martin S. and Helen Kimmel Professor of Structural Biology

Director, The Helen and Milton A. Kimmelman Center for Biomolecular Structure and Assembly. Structural Biology Department, Weizmann Institute of Science, Rehovot, Israel

Ada Yonath was born in Jerusalem. She earned a bachelor’s degree in chemistry (1962) and master’s degree in biochemistry (1964) from the Hebrew University of Jerusalem. She earned a Ph.D. in X-Ray crystallography at the Weizmann Institute of Science and completed postdoctoral studies at Carnegie Mellon University and MIT in USA. After returning from postdoctoral work in the US In 1970, she joined the academic staff of the Weizmann Institute, where she is a member of the Department of Structural Biology in the Faculty of Chemistry.

For most of her scientific career, Prof.Yonath's research focused on the mechanisms underlying protein biosynthesis. She was the first scientist to observe and unravel the internal architecture of a large ribosomal subunit. Following this discovery, Thomas Steitz and Venkatraman Ramakrishnan joined her in her experiments. They received a shared Nobel Prize in 2009 for their studies of the structure and function of the ribosome. Yonath is the first woman from the Middle East to win a Nobel Prize in the sciences.

Understanding of the way in which the ribosome creates the proteins is likely to shed light on the connection between various defects which are created in proteins and the development of various diseases. The understanding of the spatial structure of the ribosome and the principles of its functioning was made possible thanks to the innovative research approaches developed by Prof. Yonath and is likely, among other things, to assist in improving the efficiency of antibiotic drugs.


Paul J Hagerman, MD, PhD

Distinguished Professor

Department of Biochemistry and Molecular Medicine, Investigator, MIND Institute, UC Davis School of Medicine, University of California.

Paul J. Hagerman, M.D., Ph.D., is a distinguished professor in the Department of Biochemistry and Molecular Medicine and an investigator at the MIND Institute at the University of California, Davis, School of Medicine. He obtained both his M.D. and Ph.D. degrees from Stanford University School of Medicine. Dr. Hagerman is a molecular geneticist with a principal interest in understanding the basis for neurodevelopmental and neurodegenerative diseases, focusing his research on fragile X-associated disorders. The Hagerman lab has made a number of important observations related to the mechanism of gene expression of the fragile X (FMR1) gene. Drs. Paul and Randi Hagerman and colleagues reported the discovery of a neurological disorder involving tremor and balance problems, which they named fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS is now known to be one of the most common single-gene forms of neurodegeneration. One year previously (2000), Drs. Tassone and Hagerman discovered that FMR1 messenger RNA is substantially upregulated in carriers of premutation forms of the gene; this form of dysregulation is now believed to underlie the pathogenesis of FXTAS. In the years following, the Hagerman lab helped to identify the molecular processes underpinning the premutation disorders, including FXTAS; such processes include additional features of the “RNA toxicity” model, mitochondrial dysfunction, and newer evidence of a DNA damage response.


Peter K. Todd, MD, PhD

Bucky and Patti Harris Professor, Associate Professor of Neurology

Bucky and Patti Harris professor, associate professor of neurology

University of Michigan, Ann Arbor VA Medical Center.

Dr. Todd earned his PhD and MD degree from the University of Wisconsin.

He completed his internship and residency at the Hospital of the University of Pennsylvania and a research fellowship in movement disorders and neurogenetics at the University of Michigan. 

Dr. Todd’s research targets the mechanisms by which RNA and RNA processing contribute to neurodegenerative disorders, with a specific interest in Fragile X-associated tremor ataxia syndrome (FXTAS).  His group discovered that CGG repeats can support non-AUG initiated translation of toxic proteins that underlie inclusion formation FXTAS and FXPOI and may contribute to disease pathogenesis.  Dr. Todd has received several academic awards and honors including the 2014 Hagerman Prize from the National Fragile X Foundation, the S Weil Mitchell prize from the American Academy of Neurology, the Samuel Ziritzky prize from the University of Pennsylvania, and the Harris Professorship chair at the University of Michigan. As a physician scientist, Dr. Todd also serves as co-director of the Fragile X clinic at the University of Michigan where he sees adult patients with FXTAS, Fragile X Syndrome, and other Fragile X-associated Disorders.


Lawrence M. Nelson, M.D.

Director, Strategic Alliances, Mary Elizabeth Conover Foundation, Inc., McLean, VA

Intramural Research Program on Reproductive and Adult Endocrinology, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD  

Dr. Nelson received his MD degree from the University of Pittsburgh in 1973 and completed residency in Obstetrics and Gynecology at the University of Southern California. He completed a clinical research attachment at Hammersmith Hospital in London, a fellowship in Reproductive Endocrinology at George Washington University, and a research fellowship at the National Institutes of Health in Bethesda, Maryland, USA. Dr. Nelson holds an M.B.A. from George Mason University in Fairfax, VA where he concentrated his studies on human resource management and the management of nonprofit organizations. 

Dr. Nelson specializes in women's health research and currently works as a physician and research scientist in Bethesda, Maryland.  He leads a research effort on primary ovarian insufficiency, a condition that causes infertility and symptoms of menopause in young women.

Dr. Nelson received the prestigious Meritorious Service Medal from the United States Public Health Service in honor of his research on primary ovarian insufficiency. He is the author of the February 2009 New England Journal of Medicine article "Primary Ovarian Insufficiency" (formerly known as premature menopause or premature ovarian failure).


Renate K. Hukema, PhD

Assistant Professor

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam

Dr. Hukema received her PhD from the Department of Cell Biology and Genetics, Erasmus University Rotterdam. After a short postdoc at the department of pathology of UMC Utrecht, she returned to Erasmus MC to work as a postdoc at the department of Clinical Genetics. Her work at this department was funded by E-Rare for which she received a transnational grant as project coordinator of a European consortium and by a prestigious fellowship from the Netherlands Brain Foundation. In 2014 she was selected for the exclusive Female Career Development training program at Erasmus MC for talented women with the potential to become associate professor.

Current research at the department of Clinical Genetics of the Erasmus MC is focused on expanded repeats in neurological disorders mainly FMR1 premutation and its related neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS ). Her work includes the generation and characterization of several (transgenic, inducible, and knock-in) mouse models and their derived cellular models. In her recent publications in Cell Cycle (2014) and Human Molecular Genetics (2015) she was the first to show proof-of-principle for reversibility of the disease. 

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