Intellectual and Developmental Disabilities Branch (IDDB)

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 respected 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, see NICHD Strategic Plan 2020 (PDF 2.3 MB).

Understand the Molecular, Cellular, and Structural Basis of Intellectual and Developmental Disabilities (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 Comorbid 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 comorbid 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 comorbid 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 pharmacokinetic, pharmacodynamic, pharmacogenomic, dosing, and formulation 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, such as trisomy/Down syndrome, mosaicism, deletions, and duplications that cause cognitive impairment and morbidity and mortality
Cellular and Molecular Biology, including Biochemical and Metabolic Research: Examines these factors as they relate to brain functioning, brain injury, and long-term consequences to the brain
Family and Community Relationships in IDDs: Addresses processes of mutual influence between people with IDDs and other members of their families or communities, optimal strategies to promote learning and functional and adaptive skills, etc.
Newborn and Population Screening and Diagnosis: Investigates identification of infants who are at risk for congenital disorders (often biochemical, hematologic, endocrinologic, and/or genetic) for which early interventions and treatments have the potential to reduce morbidity and mortality
Research on Autism Spectrum Disorders (ASDs): Examines intellectual problems, language problems, and another medical or genetic conditions that are related or contribute to ASD
Eunice Kennedy Shriver IDD Research Centers (EKS IDDRCs): Aims to advance understanding of a variety of conditions and topics related to IDDs
Autism Centers of Excellence Program: Describes NICHD-led multidisciplinary research network that focuses on finding causes and treatments for ASDs
Centers for Collaborative Research in Fragile X: Stimulates multidisciplinary, multi-institutional research and facilitate translation of basic research findings
Collaborative Programs of Excellence in Autism/Studies to Advance Autism Research & Treatment Centers (For Historical Purposes Only): Provides historical information for these now-completed ASD research networks
Down Syndrome Consortium and DS-Connect: The Down Syndrome Registry: Describes branch-led research efforts specific to Down syndrome
Rare Diseases Clinical Research Consortia: Explains branch-led consortia that study rare diseases using multidisciplinary approaches
Paul D. Wellstone Muscular Dystrophy Specialized Research Centers (MDSRCs): Describes branch-led participation in research and education in the various forms of muscular dystrophy

Branch-Funded Projects

Now in NICHD’s Data and Specimen Hub (DASH): Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Centers Data
Jackson Laboratories Cytogenetic Models Resource
National Database for Autism Research
Newborn Screening Translational Research Network
NIH NeuroBioBank

Melissa Parisi, Branch Chief
Main Research Areas: Brain malformations (microcephaly, lissencephaly, hydrocephaly, neural tube defects, cerebral palsy, other brain studies not specified in another category); chromosomal aneusomy disorders; Down syndrome: basic biology; genetic syndromes (in the context of intellectual and developmental disabilities); IDD genetics; EKS IDDRCs; newborn screening; rare diseases; Rett syndrome/MECP2
Sujata Bardhan, Health Scientist Administrator
Main Research Areas: DS-Connect^®: The Down Syndrome Registry; Down syndrome, including basic mechanisms involved in phenotype, health disparities, outreach to underrepresented minorities, and the like; activities of the INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) project; mHealth topics related to Down syndrome and IDDs such as technology and assistive devices, telemedicine, and other relevant programs; and PregSource^®: Crowdsourcing to Understand Pregnancy research project
Alice Kau, Health Scientist Administrator
Main Research Areas: Autism Spectrum Disorders; IDD behavioral studies; rare diseases
Tracy King, Medical Officer
Main Research Areas: Down syndrome: clinical aspects; epilepsy; Fragile X syndrome, excluding FXPOI; IDD-related obesity, sleep, gastrointestinal disorders, and self-injurious behavior; Prader-Willi Syndrome; rare diseases; tuberous sclerosis complex

Highlights

Genomic Expert Curation Panels: Pre-application Webinar
For potential applicants for PAR-20-101: Genomic Expert Curation Panels (U24 Clinical Trials No Allowed)
PAR-20-101 Presentation (PDF 2.3 MB)
PAR-20-101 FAQs (PDF 82 KB)
Fragile X Centers: Pre-application Webinar
For potential applicants for RFA-HD-20-003: Centers for Collaborative Research in Fragile X and FMR1-Associated Conditions (P50 Clinical Trial Optional)
RFA-HD-20-003 Presentation (PDF 529 KB)
RFA-HD-20-003 FAQs (PDF 260 KB)
Informational Pre-Submission Webinar for RFA-HD-20-003: Centers for Collaborative Research in Fragile X and FMR1
The NICHD-led Trans-NIH Fragile X Coordinating Committee recently published the final NIH Strategic Plan for Research on FMR1-Associated Conditions (PDF 2 MB).
Down Syndrome Center of Western Pennsylvania Podcast : On the podcast episode "Research at NIH," IDDB Chief Melissa Parisi, M.D., Ph.D., and Lisa Kaeser, J.D., former director of NICHD's Office of Legislation, Public Policy, and Ethics, discuss the DS-Connect^® registry and the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) project with Dr. Kishore Vellody, director of the Down Syndrome Center of Western Pennsylvania.

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