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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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UCSF Neurogenetic Studies of Autism in Mouse Models

The purpose of these studies is to identify genetic, molecular and cellular mechanisms that control how the forebrain develops in normal and mutant mice. We are particularly interested in studying genes that contribute to autism susceptibility.

Summary

  • Study director: John Rubenstein MD, PhD
  • Sponsor: NIMH, NINDS, and Simons Foundation
  • Official study title: Genetic regulation of forebrain development in mice
  • Purpose: The purpose of these studies is to identify genetic, molecular and cellular mechanisms that control how the forebrain develops in normal and mutant mice. We are particularly interested in studying genes that contribute to autism susceptibility.

Chromosome 16p11.2 Deletion Study

The goal of this project is to convert skin cells from patients with 16p11.2 deletion into neurons and study the growth of these neurons in the lab to understand potential neurodevelopmental effects of this deletion and how they might be corrected.

Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH
  • Recruiting?: Yes
  • Official study title: Chromosome 16p11.2 Study
  • Conditions studied: 16p11.2 deletion, a genetic copy number variation strongly associated with autism features

Autism Trial with Digestive Enzyme CM-AT

This is a Phase 3 clinical trial of CM-AT, pancreatic enzyme, in patients aged 9–12 years with autistic disorder. It is hoped that CM-AT will help improve autistic symptoms through a positive impact on gastrointestinal function.

Summary

  • Study director: Robert Hendren, DO
  • Sponsor: Curemark, LLC
  • Recruiting?: Yes
  • Official study title: An Open-Label Extension Study of LUMINENZ-AT™ (CM-AT) in Children with Autism
  • ClinicalTrials.gov identifier: NCT00881452
  • Conditions studied: Autistic disorder
  • Intervention: CM-AT (pancreatic enzyme) is a pancreatic enzyme and is sprinkled onto food three times daily.

UCSF Sound & Touch Study — ADHD

The purpose of this study is to look at how boys with attention deficit hyperactivity disorder process sound and touch and whether these sensory differences exist on a neurological level.

Summary

  • Study director: Elysa Marco, MD
  • Sponsor: Private Foundation: The Wallace Foundation
  • Recruiting?: Yes
  • Official study title: UCSF Sound & Touch Study
  • Conditions studied: Predictive factors for differences in sensory processing & discrimination in boys with ADHD

Sex Specific Dissection of Autism Genetics

The purpose of this study is to find genes related to autism spectrum disorders that might differ in boys and girls.

Summary

  • Study director: Lauren A. Weiss, PhD
  • Sponsor: NIH, Simons Foundation Autism Research Initiative
  • Recruiting?: Yes
  • Official study title: Sex specific dissection of autism genetics
  • Conditions studied: Autism spectrum disorders
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