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Skin Cell to Stem Cell RasCal Study

The study will be looking at the effects of subject genetic changes on different types of cells that we can study in the laboratory, all from a small skin sample. We believe that this study will expand our knowledge about RASopathies and hope this knowledge could be used to develop new and better treatments in the future.

Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH
  • Recruiting?: Yes
  • Official study title: Skin cell to stem cell RasCal study
  • Conditions studied: RASopathies (a class of developmental syndromes caused by mutations in genes that encode protein components of the Ras/MAPK signaling pathway, such as neurofibromatosis, Costello syndrome, cardio-facio-cutaneous syndrome, and Noonan syndrome)

RASopathy Associated Traits California (RasCal) Study

We want to understand why some RASopathy associated features are different among affected people. In order to study this, we will collect genetic information on RASopathy subjects and their family members. We will use this information to determine if there is a change at genetic locations other than the disease genes that may interact with a Ras-MAPK pathway mutation to contribute to the different risk that we see among subjects for developmental problems, cancer risk, muscle strength, and other features.

Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH
  • Recruiting?: Yes
  • Official study title: RASopathy Associated Traits California (RasCal) study
  • Conditions studied: RASopathies (a class of developmental syndromes caused by mutations in genes that encode protein components of the Ras/MAPK signaling pathway, such as neurofibromatosis, Costello syndrome, cardio-facio-cutaneous syndrome, and Noonan syndrome)

Brain Development Research Program Study

We are studying the clinical, genetic, and radiographic features of brain malformation disorders to better understand the problems that individuals affected by these disorders are likely to face. The goal of our research is to develop a better understanding of the underlying genetic causes as a foundation for devising better treatments for these groups of patients.

Summary

  • Study director: Elliott Sherr, MD PhD
  • Sponsor: NIH and private foundations and grants
  • Recruiting?: Yes
  • Official study title: Brain Development Research Program
  • Conditions studied: Disorders of brain development that are visible on an MRI (or other imaging study) and/or disorders of brain development that have been clinically diagnosed, such as autism, epilepsy or cerebral palsy.

Simons Variation in Individuals Project

The purpose of this project is to characterize the clinical and behavior features associated with specific genetic mutations likely to be involved in ASD or other neurodevelopmental disorders. Currently Simons VIP is focused on 16p11.2 deletions and duplications, the most common genetic disorder associated with ASD. The end goal of our project is to develop science-based solutions and targeted treatments to improve the lives of individuals with genetic and developmental differences.

Summary

  • Study director: Elliott Sherr, MD PhD
  • Sponsor: The Simons Foundation
  • Recruiting?: Yes
  • Official study title: Simons Variations in Individuals Project
  • Conditions studied: Genetic mutations likely to be involved in ASD and other neurodevelopmental disorders. Currently we are investigating only copy number variations of 16p11.2.

Genetic Expression Mapping to Identify Networks of Functionally Related Autism Risk Genes

In this project, we use an approach to “pathway” definition using gene expression data that can unite a number of autism-implicated common polymorphisms and rare variants into a network with functional implications.

Summary

  • Study director: Lauren Weiss, PhD
  • Sponsor: Brain and Behavior Research Foundation
  • Official study title: Genetic expression mapping of functionally related autism risk genes

Identification of Maternal Genetic Risk Factors and Gene X Environment Interactions in Autism

This study will investigate maternal genetic factors for the Early Markers for Autism study, an ongoing epidemiologic investigation of immunologic and environmental markers for ASDs in maternal prenatal and newborn blood samples.

Summary

  • Study director: Lauren Weiss, PhD
  • Sponsor: NIH
  • Official study title: Early Markers for Autism study

Neurodevelopmental Pediatrics for ADHD and Autism at the Osher Integrative Medicine Center

The Neurodevelopmental Clinic at the Osher Center for Integrative Medicine is headed by Sanford C. Newmark, MD. Dr. Newmark specializes in the integrative and holistic treatment of children with autism and ADHD. He combines conventional medicine with nutrition, behavior management and various complementary modalities. Working with Dr. Newmark in this clinic are Dionne Detraz, integrative nutritionist, and Kimberly Tompkins, child psychologist. We strive to work seamlessly with the ANP clinics to provide comprehensive evaluation and care.

The Neurodevelopmental Clinic at the Osher Center for Integrative Medicine is headed by Sanford C. Newmark, MD. Dr. Newmark specializes in the integrative and holistic treatment of children with Autism and ADHD. He combines conventional medicine with nutrition, behavior management and various complementary modalities. Working with Dr. Newmark in this clinic are Dionne Detraz, integrative nutritionist, and Kimberly Tompkins, child psychologist. We strive to work seamlessly with the ANP clinics to provide comprehensive evaluation and care.

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