Basic Mechanisms of Disease and Potential Therapeutic Strategies

With $245,000 in grants from FRAXA Research Foundation, Dr. Stephen Warren and his lab at Emory University studied all aspects of Fragile X syndrome, from the mechanisms of repeat expansion to high-throughput drug screens in the Drosophila model of Fragile X. The Warren lab made the original discovery of the Fragile X gene, FMR1, in collaboration with the Nelson and Oostra labs, and is recognized internationally as a leader in molecular genetics. Recent projects include establishment of induced pluripotent stem cell lines from Fragile X patients, and determination of other forms of mutation in the Fragile X gene, other than the most common trinucleotide repeat expansion.

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Role of Experience in Regulating Levels of the Fragile X Protein

Kenneth J. Mack, MD, PhD, at Mayo Clinic, FRAXA research grant

FRAXA awarded $29,000 in 2001 and $20,000 in 2000 to Kenneth J. Mack, MD, PhD — Mayo Clinic with Peter K. Todd, MD, PhD, Postdoctoral Fellow. While a professor at University of Wisconsin-Madison, Dr. Mack investigated whether and how FMRP levels are regulated in response to neuronal stimulation in vivo (in live animals). He looked at the effects of seizures and of experience in his experiments. Dr. Mack and colleagues published their findings.

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Understanding the Function of Fragile X Protein in Drosophila

Haruhiko Siomi, PhD, at Tokushima University, FRAXA research grant

With a $105,000 grant from FRAXA Research Foundation from 2000-2003, Drs. Haruhiko Siomi and Mikko Siomi at Tokushima University researched approaches to characterize the Drosophila homolog of FMR1 and its associated molecules, and to identify molecular pathways that are involved in the cellular processes which are affected by the loss-of-function of Drosophila FMR1.

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Longitudinal Study of Children with Fragile X

With a $30,000 grant from FRAXA Research Foundation in 2000, Dr. Don Bailey and his team at the University of North Carolina studied the longitudinal development of children, with a focus on educational strategies and development of language. They have contributed greatly to our understanding of the course of Fragile X over a lifetime, as well as the frequency of autism and other behavioral complications in the Fragile X population.

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