Fragile X Research and Treatment Center
The MIND Institute established the Fragile X Research and Treatment Center directed by Randi Hagerman, M.D., in 2001. In 2003, the National Institutes of Child Health and Development (NICHD) provided funding for the center in collaboration with the University of Washington in Seattle. Our Fragile X Research and Treatment Center includes research funded by NICHD and research funded by NINDS and private donors. Our clinical evaluations and treatments of patients with fragile X is an important component of our center and our clinical experience guides our research. Our center involves the expertise of professionals in molecular biology, including Drs. Paul Hagerman and Flora Tassone, and the close interaction of clinicians and molecular biologists had lead to important advances in our understanding of fragile X and treatment.
An interdisciplinary staff and faculty are involved with the Fragile X Research and Treatment Center, including specialists in pediatrics, molecular genetics, psychiatry, psychology, neurology, genetic counseling, speech and language pathology, occupational therapy, neurobiology, pathology and social work. We have evaluated children and adults with fragile X syndrome and also carriers with the premutation from locations regionally, nationally and internationally. Families can contact Louise Gane, M.S., for clinical and research scheduling and to discuss clinical and research evaluations: (916) 703-0238 or firstname.lastname@example.org. Our research coordinators, Sarah Coffey and Vivien Narcisa, schedule patients for both research studies and clinical evaluations. Most families that participate in an evaluation at our center are involved with both clinical work and research protocols.
The molecular testing that is done through our center is carried out through research protocols. Paul Hagerman, M.D., Ph.D., heads the molecular laboratory, of our center and carriers out cutting edge research in fragile X syndrome, including those with the full mutation and those with the premutation. The link to the laboratory site is http://wizard1.ucdavis.edu. All families who are evaluated through our Fragile X Research and Treatment Center also receive treatment recommendations for both educational and behavioral interventions in addition to medical interventions including medications. Families also receive detailed didactic information – typically papers and book chapters – published by center faculty and staff.
Current research studies
Research in Genotype-Phenotype Correlations in Fragile X Families is funded by NICHD and involves a study of the association between molecular variations in the fragile gene and the physical and behavioral and cognitive features of both children and adults affected with fragile X syndrome and in those who carry the premutation form of the gene. We study individuals from five years of age through adulthood and also include parents, grandparents and siblings in the family tree. This study is also done in collaboration with Dr. Danuta Loesch at La Trobe University in Melbourne, Australia.
The Fragile X Research Center at UC Davis and University of Washington in Seattle is funded by NICHD. Our component of this Fragile X Research Center involves a core recruitment center for individuals from birth through adulthood who are affected by fragile X syndrome or the premutation. Cognitive and behavioral testing are also part of this study and blood samples are shared with the University of Washington for further molecular research.
Fragile X-associated Tremor/Ataxia Syndrome research is funded by NICHD/NINDS and done in conjunction with Jim Grigsby, Ph.D., at the University of Colorado Health Sciences Center. We evaluate males who are 40 years of age and older who have the premutation and their brothers who do not have the premutation, and we carry out neuropsychological studies and neuroimaging studies at UC Davis. Our information is shared with Dr. Grigsby and his colleagues at the University of Colorado, and we collaborate closely with his center.
The use of assistive technology for individuals with developmental disabilities funded by the Coleman Foundation and National Institutes on Disability and Rehabilitation Research. This project evaluates the efficacy of Write-Out-Loud and Co-Writer for enhancing language expression in individuals with neurodevelopmental disorders including fragile X, autism, sex chromosomal abnormalities and other genetic disorders. It is done with Cathy Bodine, Ph.D., CCC, SLP, at the University of Colorado, and it is part of the Rehabilitation Engineering Research Center for the advancement of cognitive technologies. Laura Greiss-Hess, OTR, Kerrie Lemons-Chitwood, SLP-CCC, and Susan Harris are all involved in the study that is a randomized controlled trial of this technology. Those who are randomized to the treatment on enrollment receive intensive intervention at home, at school and at the MIND Institute.
We have recently completed an ampakine study in adults with fragile X syndrome and autism which was funded by the MIND Institute and done in collaboration with Liz Berry-Kravis, M.D., Ph.D., at RUSH University Medical Center in Chicago who was funded by the FRAXA Foundation. The results of this study will be published in the near future.
Fragile X Syndrome and Down Syndrome Baby Study: This prospective, longitudinal study will examine low- and high-level visual processing differences in infants with fragile X syndrome, Down syndrome and typical development, in an attempt to elucidate where deficits do and do not exist in these disorders, and to guide new treatments. The information gained from this research will be utilized in future studies of early interventions using behavioral, medical and education-based treatments. The study is funded by the National Institutes of Health (R01HD056031). More...
Amygdala Function in Children and Adolescents with Fragile X Study: This study uses brain measurements (MRI) and measurements of startle, to investigate the function of the amygdala (a brain region responsible for regulating emotions) in children and adolescents with fragile X syndrome (FXS), as compared to typically developing controls. We will also examine relations between function of the FMR1 gene, amygdala volume and function, and neuropsychological measures of social cognition and reciprocity in children and adolescents with FXS, who typically experience high levels of anxiety. Establishing the presence of amygdala dysfunction in FXS will help us lay the stepping stones for future treatment studies this population. The study is funded by the National Institutes of Health (R21 MH080025). More...