Intellectual and Developmental Disabilities Branch (IDDB)

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Overview/Mission

IDDB sponsors research and research training aimed at preventing and ameliorating intellectual and related developmental disabilities. When the institute was created in 1962, one of its primary charges was to encourage investigations of human development throughout the lifespan, with an emphasis on understanding intellectual and developmental disabilities (IDDs).

The mission of IDDB is to support a program of research in IDDs, including common and rare neuromuscular and neurodevelopmental disorders, such as Down, Fragile X, and Rett syndromes; inborn errors of metabolism; autism spectrum disorders; and conditions currently and soon-to-be detectable through newborn screening. IDDB has a long and recognized history of providing support for a diverse portfolio of research projects, contracts, training programs, and research centers dedicated to promoting the well-being of individuals with IDDs at all stages of development.

  • Chromosome Abnormalities, Genetic/Genomic Syndromes, and Epigenetic Disorders: Addresses cytogenetic abnormalities, including chromosomal monosomy or trisomy, such as Down syndrome, mosaicism, deletions, and duplications that cause cognitive impairment and morbidity and mortality
  • Genetic, Cellular, and Systems Neuroscience of IDD: Examines these factors as they relate to the development of cognitive, social, and affective brain processes and their long-term implications
  • Biochemical and Metabolic Disorders Associated with IDD: Examines biochemical processes and metabolism as they relate to brain functioning, brain injury, and long-term consequences to the brain
  • Newborn and Population Screening and Diagnosis: Investigates novel screening tools and testing platforms to identify infants at risk for congenital disorders (often biochemical, hematologic, endocrinologic, and/or genetic), as well as the early interventions and therapies that have the potential to reduce morbidity and mortality; includes the Hunter Kelly Newborn Screening Research Program
  • Autism Spectrum Disorders (ASDs): Examines intellectual problems, language problems, and other medical or genetic conditions related or contribute to ASD
    • Autism Centers of Excellence Program: NICHD-led multidisciplinary research networks and centers that focus on better understanding the causes and mechanisms underlying ASD, improving the efficiency of methods of early identification and diagnosis, and examining innovative and cost-effective services for individuals with ASD across their lifespan
  • Down Syndrome Activities: Describes branch activities related to Down syndrome, including basic science, clinical research, leading the Trans-NIH Down Syndrome Working Group and the public-private Down Syndrome Consortium, and activities related to NIH's INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project
    • DS-Connect®: The Down Syndrome Registry: Outlines this branch-led online health registry for people with Down syndrome, their families, and healthcare providers and researchers who care for and study people with Down syndrome
  • Eunice Kennedy Shriver IDD Research Centers (EKS IDDRCs): Aims to advance understanding of the biological and neurological basis of IDDs, as well as development of treatments for a variety of conditions related to IDDs
  • Centers for Collaborative Research in Fragile X and FMR1-Associated Conditions: Multidisciplinary centers supported by multiple NIH institutes to conduct research on improving the diagnosis and treatment of FMR1-associated conditions by facilitating translation of basic research findings from bench to bedside to community
  • Rare Diseases Clinical Research Network: National Center for Advancing Translational Sciences-led initiative to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing
  • Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Centers: Multi-institute initiative to promote collaborative basic, translational, and clinical research on various forms of muscular dystrophy, and to provide research resources that can be used by the broader muscular dystrophy research community

  • Melissa Parisi, Branch Chief
    Main Research Areas: Down syndrome: basic biology and animal models; activities of the INCLUDE Project; genetic syndromes (ciliopathies); IDD genetics; EKS IDDRCs; gastrointestinal disorders and neurodevelopment; rare diseases
  • Sujata Bardhan, Program Director
    Main Research Areas: Down syndrome, including basic mechanisms involved in phenotype and clinical studies; DS-Connect®: The Down Syndrome Registry and activities of the INCLUDE Project; mHealth topics related to Down syndrome and IDDs such as technology and assistive devices, telemedicine, and other digital health technologies; small business awards; international programs focused on neurodevelopmental disorders; urea cycle disorders;
  • Bernadette Carter, Staff Assistant
  • Alice Kau, Program Director
    Main Research Areas: ASDs; IDD behavioral studies; rare diseases
  • Mollie Minear, Program Director
    Main Research Areas: Newborn screening (including the Hunter Kelly Newborn Screening Research Program); ELSI of human genomics research, including genomic data sharing and the return of genomic results to research participants; clinical and human studies of genetic, epigenetic, metabolic, and mitochondrial disorders; Clinical Genome Resource gene/variant curation expert panels; -omics studies of the human transcriptome, metabolome, proteome, and microbiome; cytogenetic abnormalities and chromosomal aneusomy disorders (except Down syndrome)
  • Meghan O’Neill, Medical Officer
    Main Research Areas: Down syndrome and associated medical, neurologic, developmental, and behavioral co-occurring conditions; developmental delay and intellectual disability; autism spectrum disorder; ADHD; learning disabilities; cerebral palsy; other neurobehavioral and neurogenetic disorders
  • Maripierre Surpris, Ph.D., Program Director
    Main Research Areas: Muscular dystrophies; rare genetic syndromes; brain development and brain disorders

Highlights

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