Simons Simplex Collection
Baylor College of Medicine (BCM), in conjunction with Texas Children's Hospital (TCH), wishes to join the Simons Simplex Collection Autism Resource (SSCAR). BCM and TCH are housed in the world- renowned Texas Medical Center, which provides an outstanding environment in support of such clinical-research activities.
Drs. Arthur Beaudet and Diane Treadwell-Deering will serve as PIs for the BCM site. They have organized a skilled team of professional who have expertise in the clinical care of children with autism spectrum disorders (ASD) and/or management of research projects specifically with ASD populations.
Recruitment will commence through several venues, including the multidisciplinary Clinic for Autistic Spectrum Disorders at TCH, which has been operating since 2001 and routinely evaluates two new children per week; other clinics/departments at TCH that follow children diagnosed with autism, such as the Meyer Center for Developmental Pediatrics, neurology, genetics, and psychiatry; Texas Children's Pediatric Associates, which is a subsidiary of TCH and the nation's largest group of general pediatricians; the Interactive Autism Network; autism-support organizations in the greater Houston area; and public and private schools in greater Houston.
We will engage families that have a single proband with an ASD, at least one full sibling without evidence of autism of ASD, and two unaffected biological parents. Families will be screened and phenotyped according to the established SSCAR protocol, and all family members of eligible families will provide blood samples for subsequent DNA extraction.
Because a pheotypically well-defined sample is of utmost importance for all genetic, cell biological, phenotypic, and cognitive studies, the careful and accurate administration of measures will be given the highest priority.
BCM further wishes to participate in the collection of dysmorphology data, following Dr. Judith Miles' newly developed Autism Dysmorphology Measure (ADM), which allows separation of probands into those with complex versus essential autism.
Relevance of the project to IDDRC mission:
Autism is one of the most common causes of serious childhood disabilities, and this project is directly involved in efforts to identify genetic and epigenetic causes of autism.