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March 11, 2004

Fragile X Center to host UC Davis experts

To inaugurate the new Fragile X Research Center at the Center on Human Development and Disability (CHDD), two internationally known experts on fragile X syndrome will visit the UW next week to give lectures and hold a series of meetings with fragile X researchers and clinicians. Their visits are being coordinated by Dr. Charles Laird, UW professor of biology, director of the Fragile X Research Center and coordinator of CHDD’s Research Emphasis Area on Fragile X Syndrome.

Dr. Randi Hagerman, professor of pediatrics and medical director of the MIND Institute at the University of California at Davis, will discuss “Neurodevelopment and Neurodegeneration: Two Faces of the Fragile X Gene, FMR1,” focusing on fragile X syndrome in children and the newly identified fragile X-associated tremor/ataxia syndrome, or FXTAS, in older adults. She will speak at 12:30 p.m. Tuesday, March 16, in room CD-150 at CHDD.

Her husband, Dr. Paul Hagerman, professor of biological chemistry at UC Davis School of Medicine, will discuss “The Fragile X Gene: Distinct Molecular and Neuropathologic Mechanisms Give Rise to Two Separate Syndromes,” at 4:30 p.m. on Monday, March 15, in room K-069 of the Health Sciences Center. His lecture is sponsored by the UW Department of Pathology.

Last fall, CHDD was awarded a five-year $5.86 million grant from the National Institute of Child Health and Human Development to establish the Fragile X Research Center.

Fragile X syndrome is the most common inherited cause of mental retardation, affecting an estimated one in 4,000-6,000 males and about half as many females. Physical features are variable, but can include enlarged ears, a long face, connective tissue problems and skeletal problems. Some males exhibit speech disturbances, hand biting or hand flapping, and autistic behaviors. About one in 260 females is an unaffected carrier of the mutation in the FMR1 gene, located on the long arm of the X chromosome. Under normal conditions the gene produces a protein that maintains proper functioning of nerve cells in the brain. The mutated gene causes a particular segment of DNA to repeat too many times, in what is called a CGG repeat, because it contains the same DNA building blocks—cytosine, guanine and guanine—in the same repetitive order.

While the focus of the Fragile X Research Center is on fragile X syndrome, the Hagermans will also discuss their research into FXTAS, which they published Jan. 28 in the Journal of the American Medical Association. They state that a significant number of adults with progressive tremors, balance problems and dementia are misdiagnosed with Parkinson’s disease, senile dementia or Alzheimer’s disease, when their condition could be accurately identified as FXTAS with a standard DNA blood test.

“Fragile X syndrome and FXTAS are two completely separate syndromes, the former a developmental disorder of childhood and the latter a neurodegenerative disorder in older adults,” said Paul Hagerman. “They are caused by trinucleotide repeat expansions of the same FMR1 gene, but they arise by completely separate molecular mechanisms and affect separate groups of individuals.”

During their visit, the Hagermans will also hold meetings with members of CHDD’s Research Emphasis Area (REA) on Fragile X Syndrome, joined by faculty drawn from CHDD’s REA on Neurodegenerative Disorders. Through collaborations among investigators from both groups, CHDD is in a unique position to help fully understand these neurodevelopmental and neurodegenerative disorders. Close collaborative projects with the Hagermans on this and related efforts are in the planning stages.

For information on Randi Hagerman’s lecture, contact Laurie McHale at 543-4037 or lmchale@u.washington.edu. For information on Paul Hagerman’s lecture, contact Steve Berard at 543-0269 or sberard@u.washington.edu.