Intellectual and Developmental Disabilities Branch (IDDB)

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
• 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

• Collaborative Programs of Excellence in Autism/Studies to Advance Autism Research & Treatment Centers (For Historical Purposes Only): This page provides historical information for these now-completed ASD research networks.
• INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project: NICHD, through its IDDB, leads activities for this trans-NIH project, which seeks to better understand critical health and quality-of-life issues for people with Down syndrome.
• 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, and the National Institute on Aging, 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, 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;
• 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