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Center for Excellence in Developmental Disabilities

Center for Excellence in Developmental Disabilities

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Research

Fragile X Research and Treatment Center

The Fragile X Research and Treatment Center is directed by Randi Hagerman, M.D.  Clinical evaluations and treatment 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 has lead to important advances in our understanding of fragile X and treatment.  An interdisciplinary staff and faculty are involved with the Center, including specialists in pediatrics, molecular genetics, psychiatry, psychology, neurology, genetic counseling, speech and language pathology, occupational therapy, neurobiology, pathology and social work. Research projects are funded by the National Institutes of Child Health and Development (NICHD), the National Institute of Neurological Disorders and Stroke (NINDS), and private donors. Click here for additional information.

NeuroTherapeutics Research Institute (NTRI)

The principal objective of NTRI (pronounced “entry”) is the implementation of highly integrated approaches to develop targeted therapeutics, including molecular interventions, for neurogenetic disorders.  The Institute is the hub of an interdisciplinary research consortium which brings together clinical and basic scientists from the Erasmus Medical Center (Rotterdam, The Netherlands), University of Washington, University of Colorado Health Sciences Center, and Scripps Research Institute. Investigators are currently focusing on the late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS) in addition to fragile X syndrome. FXTAS affects carriers of small-to-moderate CGG-repeat expansions of the fragile X mental retardation 1 (FMR1) gene. Larger expansions give rise to fragile X syndrome, the leading heritable form of cognitive impairment and the leading known genetic form of autism.  It is our expectation that the understanding gained through the study of FXTAS and fragile X syndrome will be more broadly applicable to other neurodegenerative and neurodevelopmental disorders. Click here for additional information.

Partners in Autism Intervention Research (PAIRS)

Dr. Sally Rogers is the Principal Investigator on a grant entitled ‘The Effects of Parents as Therapists on Social –Communicative Development of Toddlers with Autism: A Community Effectiveness Study.’  The study has developed a parent-friendly training package of both written and video material for professionals and parents with toddlers 12-36 months newly diagnosed with autism using the Early Start Denver Model, a developmentally based comprehensive intervention for very young children with autism. The effectiveness of the interventions is currently under evaluation. Participating families receive 12 weekly one hour intervention sessions in the form of parent training.  Families are recruited from diverse backgrounds (different ethnicities, single income parents and two parent providers) in order to learn how to best meet the needs of culturally and economically diverse families. 

Markers of Autism Risk in Babies-Learning Early Signs (MARBLES)

The MARBLES Project studies how autism unfolds during its earliest phases, beginning with pregnancy.  The goals of the project are to 1) identify early signs of autism, 2) understand the earliest possible causes of autism, and 3) develop diagnostic tests and interventions that can limit the effects of autism or prevent it altogether.  The MARBLES Project is the core clinical project of the Center for Children’s Environmental Health, which was launched in 2007 and is funded under grants from the National Institute of Environmental Health Sciences and the U.S. Environmental Protection Agency. Dr. Robin Hansen is the Principal Investigator for the Community Outreach and Translation Core of the MARBLES Project.  Click here for additional information.

Childhood Autism Risks from Genetics and the Environment (CHARGE)

The CHARGE Study, under the clinical leadership of Robin Hansen, M.D. as a co-Investigator, is a case-control study of over 1,000 children with differing patterns of development. These include children with autism, children with developmental delay but not autism, and typically developing children. Subject groups will be compared with regard to a broad array of exposures and physiologic factors. Autism cases will also be characterized into more homogenous subgroups to determine whether particular genes or environmental exposures are associated with certain subtypes of this condition.  The CHARGE Study was launched in 2003 and is funded under a grant from the National Institute of Environmental Health Sciences and the U.S. Environmental Protection Agency with Irva Hertz-Piciotto, Ph.D. as the Principle Investigator. Click here for additional information.

Cognitive Analysis and Brain Imaging Laboratory (CABIL) / 22q11.2 Deletion Syndrome (VCFS/DiGeorge)

CABIL is directed by Tony J. Simon, Ph.D., and is funded by the National Institutes of Health.  CABIL's research involves 1) theory-driven experiments that test the functioning of specific brain circuits under different conditions, using computer games, and 2) brain imaging (using safe, radiation-free neuroimaging methods) to characterize the changes in brain development that affect neural structure, connectivity and function.  Knowing how the brains of children with neurodevelopmental disorders differs from those of their typically developing peers helps generate possible explanations for impairments in cognitive function.   The long-term goal of the work is to develop a range of intervention techniques that will reduce or even eliminate many of the cognitive and intellectual difficulties that present challenges to children with neurodevelopmental disorders.   Current research focuses on children with chromosome 22q11.2 deletions (also known as Velocardiofacial or DiGeorge syndromes) and children with Fragile X, Turner or Williams syndromes. Click here for additional information.

Virtual Reality and Social Skills in Autism

This is a collaborative project, with the UC Davis Computer Science Department, USC Institute for Creative Technologies, and Stanford University Department of Psychology, to examine the use of virtual reality to improve social skills treatments for children and adults with autism.  Peter C. Mundy, Ph.D., is the CEDD lead on this project.

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