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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 that are 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, translational and clinical research, founding the NIH-wide 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: This online health registry was developed by NICHD 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

  • INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project: NICHD, through its IDDB, leads activities for this NIH-wide project, which seeks to better understand critical health and quality-of-life issues for people with Down syndrome across the lifespan.
  • Jackson Laboratories Cytogenetic Models Resource: The Jackson Lab maintains and distributes chromosome aberration stocks that provide primarily mouse models for Down syndrome.
  • National Institute of Mental Health Data Archive (NDA): This NIH-supported informatics platform for data repositories includes relevant data at all levels of biological and behavioral organization (i.e., molecules, genes, neural systems, social and environmental interactions, etc.) and for all data types (e.g., text, numeric, image, time series). NDA was developed to share data across multiple research domains and to facilitate collaboration across laboratories and interconnectivity with other platforms. The National Database for Autism Research constitutes a subset of NDA and houses all NIH-funded ASD-related data.
  • NIH NeuroBioBank: This repository, funded by NICHD, the National Institute of Mental Health, the National Institute of Neurological Disorders and Stroke, the National Institute on Aging, and the National Institute on Drug Abuse is a centralized resource for collecting and distributing brain tissue for research. The bank serves as the single point of access for six biorepositories, including brain and tissue banks at the University of Maryland and the University of Miami established and previously funded by NICHD. Biospecimens in the NeuroBioBank span neurological, neuropsychiatric, and neurodevelopmental diseases, disabilities, and disorders.

  • Melissa Parisi, M.D., Ph.D., Branch Chief
    Main Research Areas: Down syndrome: basic biology and animal models; activities of the INCLUDE Project; genetic syndromes (ciliopathies); IDD genetics; gastrointestinal disorders and neurodevelopment; rare diseases; newborn screening (including the Hunter Kelly Newborn Screening Research Program); ELSI of human genomics research and prenatal genetic diagnosis
  • Sujata Bardhan, Ph.D., M.S., Program Officer
    Main Research Areas: Down syndrome, including basic mechanisms, associated medical, neurologic, developmental and behavioral co-occurring conditions, translational 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; urea cycle disorders;  rare diseases, including mitochondrial and metabolic disorders 
  • Bernadette Carter, Staff Assistant
  • Linda Garcia, B.A., Senior Scientific Program Manager
    Main Research Areas: project management and strategic communication services for Down syndrome-related activities, including the INCLUDE Project, DS-Connect®: The Down Syndrome Registry, the Down Syndrome Collaboration for Down syndrome Progress (DS-CDP), and the Down Syndrome Consortium; outreach coordination for program activities that engage the Down syndrome community.
  • Anjali Jain, M.D., Medical Officer 
    Main Research Areas: Autism; IDD and associated medical, developmental, and behavioral co-occurring conditions, including obesity and mental health disorders
  • Mei Qin, M.D., Ph.D., Program Officer
    Main Research Areas: Fragile X syndrome; EKS IDDRCs; hypoxic ischemic encephalopathy; cerebral palsy; international programs focused on neurodevelopmental disorders; caregiver and health services research; pre/perinatal factors and epigenetics in IDD; self-injurious behavior; Artificial Intelligence and digital health in IDD. 
  • Maripierre Surpris, Ph.D., Ph.D., Program Officer
    Main Research Areas: Muscular dystrophies; rare genetic syndromes; brain development and brain disorders; Mendelian disorders of epigenetic machinery; small business awards

Highlights

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