Intellectual and Developmental Disabilities Branch (IDDB)

Child reading a bookOverview/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.

We are interested in applications that align with the following research priorities. For more information about NICHD’s research themes, cross-cutting topics, and aspirational goals, visit the plan’s Scientific Research Themes and Objectives.

Understand the Molecular, Cellular, and Structural Basis of IDDs

Strategic Plan Theme 1: Understanding the Molecular, Cellular, and Structural Basis of Development
Strategic Plan Aspirational Goal: Facilitate application of precision medicine approaches in children

Gap: At present, the field is hindered by a lack of understanding of the etiology of IDDs, especially genetic and epigenetic causes such as the role of gene regulatory networks and the interactions between genes and environmental exposures that can lead to neurodevelopmental disorders.

Priority: Interdisciplinary studies with an emphasis on new genomic and other ‘omics technologies that will shed light on the molecular, cellular, and environmental events that determine the structure and function of the nervous system and contribute to the cognitive and behavioral manifestations of IDDs, including Down, Fragile X, and Rett syndromes; inborn errors of metabolism; and autism spectrum disorders.

Improve Screening and Early Diagnosis for IDD Conditions to Develop Early Interventions and Treatments

Strategic Plan Theme 4: Improving Child and Adolescent Health and the Transition to Adulthood
Strategic Plan Cross-Cutting Topics: Disease Prevention, Global Health

Gap: Evidence is needed to demonstrate that early screening and intervention can reduce morbidity and mortality domestically and globally and can improve long-term outcomes for those with IDDs and conditions identifiable by newborn screening, including genetic syndromes, inborn errors of metabolism, autism spectrum disorders, and others.

Priority: Research on the development and/or implementation of new and existing screening tests for the pre-pregnancy, prenatal, newborn, and early childhood periods that evaluates the efficiency and effectiveness of translating these tools into clinical care and the public health setting.

Understand the Complexity of Co-occurring Symptoms in IDD Conditions

Strategic Plan Theme 4: Improving Child and Adolescent Health and the Transition to Adulthood

Gap: To develop interventions for improving daily functioning and health among individuals with IDDs, particularly those with moderate to profound cognitive or adaptive impairment, more knowledge is needed about the co-occurring symptoms of these disabilities, especially as they pertain to physical, social, and emotional development, and as influenced by cultural, social, or access issues.

Priority: Research on co-occurring conditions of IDDs, including disordered sleep, self-injurious behaviors, obesity, gastrointestinal dysfunction, seizures/epilepsy, attention deficit/hyperactivity disorder, anxiety, depression, psychosis, and other mental health disorders to improve health outcomes among those with IDDs.

Understand the Natural History of Neurobiological and Behavioral Transitions in IDDs

Strategic Plan Theme 4: Improving Child and Adolescent Health and the Transition to Adulthood
Strategic Plan Aspirational Goal: Identify biomarkers of atypical neurodevelopment to establish likelihood of neurodegenerative disorders later in life.

Gap: The natural history of many IDD conditions is poorly understood. There is a lack of best practices to improve the transition of adolescents with IDDs to adult healthcare providers and services.

Priority: Research that examines transitional time periods of interest for IDDs, including pre-symptomatic, adolescence to adulthood, middle adulthood to aging (e.g., to address the high prevalence of dementia in IDD populations), as well as the role of exposures to social and environmental factors, such as diet and nutrition, technology and digital media use, sleep habits, physical activity, and infectious agents on health outcomes in the IDD population.

Develop and Test Biomarkers and Outcome Measures for Use in Clinical Trials for IDDs

Strategic Plan Theme 5: Advancing Safe and Effective Therapeutics and Devices for Pregnant and Lactating Women, Children, and People with Disabilities

Gap: The field lacks valid and rigorous biomarkers and outcome measures for use in clinical trials related to IDDs, which results in many existing therapeutics not being adequately tested for the specific needs of people with IDDs.

Priority: Research that identifies specialized biomarkers, new modeling approaches, and improved outcome measures for IDD symptoms, severity assessments, and treatments, especially outcomes targeting cognitive (including language), behavioral (adaptive or maladaptive), social-environmental, and medical issues.

Promote Translational and Implementation Research to Develop Safe and Effective Therapeutics and Devices for People with IDDs

Strategic Plan Theme 5: Advancing Safe and Effective Therapeutics and Devices for Pregnant and Lactating Women, Children, and People with Disabilities

Gap: Few specific and effective treatments exist for those with IDDs. The field needs adequate drug metabolism studies, as well as research to evaluate the effectiveness and risks of polypharmacy, to ensure that these treatments meet the needs of people with IDD conditions.

Priority: Promote the development, evaluation, dissemination, and implementation of interventions, including pharmacologic treatments, assistive and medical devices, and technologies, that will impact clinical care, optimize function, and improve quality of life for physiological, cognitive, and behavioral manifestations of IDDs.

  • 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
    • Newborn Screening Translational Research Network: Resource for investigators engaged in newborn screening-related research. Includes a suite of tools to collect and analyze genomic and clinical information; information on disorders that are part of or candidates for newborn screening; resources about the ethical, legal, and social implications of newborn research; and an interactive map to learn about states, subjects, and samples related to newborn screening
  • 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, health disparities, outreach to underrepresented and underserved communities (e.g., rural, groups experiencing health disparities); 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; PregSource®: Crowdsourcing to Understand Pregnancy research project
  • Bettina Buhring, Program Director
    Main Research Areas: Understanding the effects of monogenic disorders on brain development and the resulting intellectual, social, and affective outcomes; fostering novel approaches for treating and preventing monogenic disorders and resulting phenotypes such as self-injurious behavior; understanding the mechanisms underlying inborn errors of metabolism and mitochondrial diseases and their effects on development; causally linking genetic and metabolic changes to modifications in neural activity that may underlie intellectual disability and related interventions
  • Alice Kau, Program Director
    Main Research Areas: ASDs; IDD behavioral studies; rare diseases
  • Tracy King, Medical Officer
    Main Research Areas: Clinical research involving persons with Fragile X syndrome and involving children, adolescents, and young adults with the FMR1 premutation; clinical research involving rare genetic disorders associated with IDD, including MECP2/Rett syndrome and Chromosome 15q-associated conditions, including Angelman syndrome, Prader-Willi syndrome, and Dup15q syndrome; ethical, legal, and social implications (ELSI) of research involving persons with IDD (excluding ELSI of human genomics research); research addressing medical co-morbidities in IDD, including obesity and sleep disorders; health services research relevant to IDD conditions, particularly in the transition from adolescence to adulthood.
  • 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)

Highlights

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