Funding

Upcoming Funding Opportunities

Project Title Notice of Intent to Publish Funding Opportunity Announcements in Fiscal Year 2020 for the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project
Notice Number

NOT-OD-20-012

Estimated Publication Date of Funding Opportunity Announcement December 13, 2019
First Estimated Application Due Date

February 04, 2020

Funded Projects

2019

Project Title Data Coordinating Center for the Pediatric Heart Network
Awardee

New England Research Institutes, Inc.

Project Number 3U24HL135691-03S2
Funding Opportunity Announcement

RFA-HL-17-005

Summary

This award will add training in caring for individuals with Down syndrome for physicians in the Pediatric Heart Network.

Project Title A Longitudinal MRI Study Characterizing Very Early Brain Development in Infants with Down Syndrome
Awardee Washington University
Project Number 5R01HD088125-02
Funding Opportunity Announcement

PA-13-302

Summary

This project will create a cohort of infants with Down syndrome, data from which can be used to address recommendations for investigation of comorbid autism, characterize cardiovascular and other potential physical health characteristic, and conduct future biospecimen analyses, including genetic analyses.

Project Title Type I Interferon Dysregulation in Down Syndrome
Awardee

Icahn School of Medicine At Mount Sinai

Project Number

1R01AI150300-01  

Funding Opportunity Announcement

RFA-OD-19-016

Summary This study will provide mechanistic insights on the molecular regulation of IFN-1 in DS, and may ultimately lead to a therapeutic strategy to alleviate DS-associated immune disorders.
Project Title Understanding Down Syndrome as an Interferonopathy
Awardee University of Colorado Denver
Project Number 1R01AI150305-01
Funding Opportunity Announcement RFA-OD-19-016
Summary

This project will research the immune disorders in Down syndrome and provide mechanistic insights on the effects of Down syndrome on hyperactive interferon (IFN) signaling and associated phenotype.

Project Title Research Training in Rheumatology
Awardee University of Colorado Denver
Project Number

5T32AR007534-33

Funding Opportunity Announcement PA-16-152
Summary This program provides professional development to a Pediatric Rheumatology trainee to conduct research to advance medical knowledge of rheumatic and autoimmune diseases in individuals with Down syndrome.
Project Title University of Colorado Cancer Center Support Grant
Awardee

University of Colorado Cancer Center

Project Number 5P30CA046934-31
Funding Opportunity Announcement RFA-OD-19-016
Summary This project will form a research team who will use human samples obtained from an ongoing pan-omics cohort study of people with DS and novel mouse models of DS carrying varying copy numbers of the IFNR gene cluster to define the role of IFNR triplication and hyperactive IFN signaling on: 1) Clonal expansion of leukemogenic mutations in the hematopoietic compartment; 2) Increased toxicity during chemotherapy for pediatric leukemias.
Project Title

Susceptibility to and Release from Masking in Infancy and Childhood

Awardee Father Flanagan's Boys' Home
Project Number

3R01DC011038-10S1

Funding Opportunity Announcement PA-19-056
Summary

This supplement supports an existing grant that will enroll 60 school-age children with Down syndrome (5-17 years) in order to evaluate their speech recognition in the context of each child’s hearing function, cognitive functioning, medical history, parent questionnaires and language measures.

Project Title

Down syndrome, early cataracts, eye diseases, and beta-amyloid conformers

Awardee University of California, San Diego
Project Number 1R21EY031277-01
Funding Opportunity Announcement RFA-OD-19-015
Summary This study will develop novel nanoantibodies against the multiple conformers of beta-amyloid (Aβ) and use these to study the development of plaques in the eyes of Alzheimer’s Diseases mouse models. 
Project Title Predoctoral Training Grant in Pharmacology
Awardee University of Colorado Denver
Project Number 2T32GM007635-41
Funding Opportunity Announcement PA-18-403
Summary This project will support a Pharmacology Training Program that will study how the use of chemical and biological agents can affect biological systems and mitigate disease in Down syndrome-related neuroscience. 
Project Title

Trisomy 21 and RNA polymerase II function

Awardee

University of Colorado Denver

Project Number 1R01HD100935-01
Funding Opportunity Announcement

RFA-OD-19-016

Summary This research will investigate the role of global RNA polymerase II (pol II) dysregulation in Down syndrome.
Project Title JAK Inhibition in Down Syndrome
Awardee University of Colorado Denver
Project Number 1R61AR077495-01
Funding Opportunity Announcement RFA-OD-19-018
Summary

This research will evaluate the safety and therapeutic effects of tofacitinib, an agent which targets JAK signaling, on immune-mediated dermatological conditions in young adults with Down syndrome.

Project Title

Evaluating outcome measures in young adults with Down syndrome

Awardee Cincinnati Children’s Hospital Medical Center
Project Number 3R01HD093754-02S1
Funding Opportunity Announcement PA-19-056
Summary

This supplement will extend the evaluation of psychometric properties of recommended promising measures of cognitive outcomes to young adults with Down syndrome (ranging from 18-29 years of age). The parent grant is evaluating the outcome measures in school aged children.

Project Title

Elevated mitochondrial fusion and function in Down syndrome

Awardee The University of Texas Southwestern Medical Center
Project Number

1R01HD101006-01

Funding Opportunity Announcement RFA-OD-19-016
Summary This research will study mitochondrial metabolism and oxidative stress in Down syndrome, and may ultimately lead to the identification of dominant genes associated with the DS phenotype.
Project Title Acceptability and Performance on In-Home Polysomnography in Youth with Down Syndrome
Awardee Children's Hospital of Philadelphia
Project Number 1R21HD101003-01
Funding Opportunity Announcement RFA-OD-19-015
Summary

This research will develop and test the feasibility and accuracy of a home-based sleep assessment tool in diagnosing Obstructive sleep apnea syndrome (OSAS) in adolescents with Down syndrome.

Project Title fNIRS as an outcome measure of the prefrontal hemodynamic response in Down syndrome
Awardee Drexel University
Project Number 1R21HD100997-01
Funding Opportunity Announcement

RFA-OD-19-015

Summary This research will test the feasibility of using functional near infrared spectroscopy (fNIRS) and executive functioning neurodevelopmental tests in individuals with Down syndrome.
Project Title Evaluating Assessment and Medication Treatment of ADHD in Children with Down Syndrome
Awardee

Cincinnati Children’s Hospital Medical Center

Project Number 1R61HD100934-01
Funding Opportunity Announcement RFA-OD-19-018
Summary This research will determine the phenotypic characteristics differentiating children with comorbid Down syndrome and ADHD from those with Down syndrome alone, and to conduct a randomized controlled trial of stimulant medication in the Down syndrome + ADHD group.
Project Title Washington University Intellectual and Developmental Disabilities Research Center
Awardee Washington University
Project Number 5U54HD087011-05
Funding Opportunity Announcement

RFA-HD-15-033

Summary

This project will build a patient-derived induced pluripotent stem cell (iPSC) resource from DS individuals and explore molecular and cellular signatures from differentiated cortical interneurons that reflect different cognitive abilities of the donors.

Project Title

Kansas Intellectual and Developmental Disabilities Research Center

Awardee University of Kansas Lawrence
Project Number 5U54HD090216-04
Funding Opportunity Announcement RFA-HD-16-013
Summary

This project will 1) increase DS-Connect® registry enrollment, 2) extract clinical observations, treatments, and outcomes from PCORnet, the National Patient-Centered Clinical Research Network, for DS-Connect subjects, and 3) conduct on-line cognitive assessments (Self-Determination Inventory, SDI) via DS-Connect in the PCORnet population and link to data on obstructive sleep apnea as proof of principle.

Project Title Positive Airway Pressure for the Treatment of the Obstructive Sleep Apnea Syndrome in Children with Down Syndrome
Awardee Children's Hospital of Philadelphia
Project Number 1R61HL151253-01
Funding Opportunity Announcement RFA-OD-19-018
Summary

This study will evaluate interventions to enhance CPAP adherence in children/adolescents with Down syndrome and comorbid obstructive sleep apnea (OSA).

Project Title

Data Coordinating Center for the Pediatric Heart Network

Awardee

New England Research Institutes, Inc.

Project Number

5U24HL135691-03

Funding Opportunity Announcement RFA-HL-17-005
Summary This supplement will assess the impact of congenital heart disease (CHD) repair on neurodevelopmental (ND) and behavioral outcomes at 3-5 years of age by comparing Down syndrome children with heart surgery repair to age-matched Down syndrome controls without CHD.
Project Title Identifying Measures of Pulmonary Morbidity for Clinical Trials in Children with Down Syndrome and Aspiration
Awardee University of Colorado Denver
Project Number 1R21HL151261-01
Funding Opportunity Announcement RFA-OD-19-015
Summary

The project will conduct a case-controlled study to determine the pulmonary factors that may significantly contribute to morbidity and mortality in patients with Down syndrome, with a focus on chronic aspiration.

Project Title Medications for Obstructive Sleep Apnea to Improve Cognition in Children with Down Syndrome (MOSAIC DS)
Awardee

University of Arizona

Project Number 1R61HL151254-01
Funding Opportunity Announcement RFA-OD-19-018
Summary

This research will conduct a trial of combined atomoxetine and oxybutynin (ato-oxy) medication, a regimen to improve airway tone which has proven effective in adults with obstructive sleep apnea (OSA), in children with Down syndrome.

Project Title Innovation through collaboration at the intersection of childhood development and cancer: a platform for the Gabriella Miller Kids First Pediatric Data Resource Center
Awardee Children's Hospital of Philadelphia
Project Number 1R61HL138346-02
Funding Opportunity Announcement

RFA-RM-16-010

Summary The project will incorporate approximately 2,000 existing DNA samples collected from individuals with Down syndrome into The Kids First Data Resource Center (DRC), a repository of whole-genome sequence and clinical data from childhood cancer and structural birth defects patient cohorts. 
Project Title Cardiovascular Biomechanics and Imaging in Down syndrome 
Awardee University of Colorado Denver
Project Number 3T32HL072738-16S1
Funding Opportunity Announcement NOT-OD-19-087
Summary

The project will incorporate approximately 2,000 existing DNA samples collected from individuals with Down syndrome into The Kids First Data Resource Center (DRC), a repository of whole-genome sequence and clinical data from childhood cancer and structural birth defects patient cohorts.

Project Title

Academic Training Program in Pediatric Pulmonary Disease

Awardee

University of Colorado Denver

Project Number 5T32HL007670-30
Funding Opportunity Announcement NOT-OD-19-087
Summary

The project will expand an existing postdoctoral training program in pediatric pulmonary disease to include a novel interdisciplinary training program with a focus on cardiopulmonary disorders related to Down syndrome.

Project Title

Epigenetic Silencing of HSA21 in Down Syndrome

Awardee Beth Israel Deaconess Medical Center
Project Number 1R21NS115593-01
Funding Opportunity Announcement

RFA-OD-19-015

Summary

This study will investigate the development of neurons and astrocytes in cortical organoid cultures derived from Down syndrome patient iPSCs, assess the impact of HSA21 by using an Xist strategy to silence HSA21 in Down syndrome patient iPSCs, and examine mouse models to track cell type specific transcriptomic changes and gene expression abnormalities over the animal’s lifespan.

Project Title

University of Pittsburgh Clinical and Translational Science Institute

Awardee University of Pittsburgh At Pittsburgh
Project Number 5UL1TR001857-04
Funding Opportunity Announcement PAR-15-304
Summary This project will develop culturally and linguistically appropriate educational and recruitment materials related to participation in Down syndrome research for African Americans with Down syndrome, their families and, caregivers, and increase recruitment of individualswith Down syndrome into related studies in the clinical trial portal Pitt+Me.
Project Title

ITM 2.0: Advancing Translational Science in Metropolitan Chicago

Awardee

University of Chicago

Project Number 5UL1TR002389-03
Funding Opportunity Announcement

PAR-15-304

Summary Using large clinical data sets this project will characterize unique comorbidity patterns in people with Down syndome, discover disease subtypes in the syndrome and develop predictive health / life trajectories of these subtypes. This project will provide the ability to stratify cohorts to enable clinical trial recruitment to be more expeditiously and accurately conducted.
Project Title Clinical trials to prevent Alzheimer’s Disease in Down Syndrome
Awardee

University of Southern California

Project Number 1R61AG066543-01
Funding Opportunity Announcement RFA-OD-19-018
Summary This project will develop a ‘trial-ready’ cohort of middle-aged amyloid-positive individuals with Down Syndrome (DS) and then, in Phase II, conduct a trial of an anti-amyloid therapeutic agent.
Project Title Evaluation of myocardial targets to prevent anthracycline cardiotoxicity in children with Down Syndrome and Leukemia
Awardee State University of New York At Buffalo
Project Number 1R21CA245067-01
Funding Opportunity Announcement PA-19-111
Summary

This research will investigate the role of the DYRK1ASRp55-TNNT2 pathway during anthracycline cardiotoxicity in a model of beating cardiomyocytes with trisomy 21, examine whether combined pharmacological inhibition of CBR1 and DYRK1A activities are able to protect trisomic cardiomyocytes from the cardiotoxic effects of anticancer anthracyclines, and study the extent of genome-wide splicing alterations linked to the increased expression of the master splicing factor SRp55 in myocardial tissue from persons with Down syndrome.

Project Title

Predoctoral Training Program in Molecular Biology

Awardee University of Colorado Denver
Project Number 5T32GM008730-20
Funding Opportunity Announcement PA-19-111
Summary

This will support training new high-quality scientists dedicated to pursuing biomedical research to enhance understanding about the causes and potential treatments of Down syndrome. 

Project Title Epigenetics of Down Syndrome
Awardee Hackensack University Medical Center
Project Number

3R01HD090180-04S1

Funding Opportunity Announcement

PA-19-056

Summary This research will quantitatively analyze age-related immune system alterations, epigenetic changes, loss of hearing, cognitive decline and behavioral changes in three different Down syndrome mouse models with segmental duplications.
Project Title

Intellectual and Developmental Disabilities Research Centers 2013

Awardee

Hugo W. Moser Research Institute at Kennedy Krieger

Project Number 3U54HD079123-05S1
Funding Opportunity Announcement RFA-HD-14-012
Summary This research will validate a behavioral measure of executive function (EF) as a resource for future clinical trials for interventions in Down syndrome.
Project Title

Early risk for ADHD symptoms in young children with Down syndrome

Awardee

Colorado State University

Project Number 1R21HD101000-01
Funding Opportunity Announcement RFA-OD-19-015
Summary

This study will conduct a retrospective analysis to evaluate associations between infant cognitive control and the presentation of Attention Deficit and Hyperactivity

Disorder (ADHD) symptoms at ages 4-5.

Project Title

Waisman Intellectual and Developmental Disabilities Research Center

Awardee University of Wisconsin-Madison
Project Number 5U54HD090256-04
Funding Opportunity Announcement

RFA-OD-19-015

Summary This project will build an under-18 year old DS cohort, performing comprehensive clinical, neurobehavioral, and ‘omics research on this population, to prepare them for future studies and clinical trials
Project Title Ancestral roles of histone-modifying genes in heart development and disease
Awardee

Children’s Research Institute

Project Number 3R01HL134940-03S1
Funding Opportunity Announcement PA-19-056
Summary This research will test the hypothesis that congenital heart disease in Down syndrome is caused by dysregulation of autophagic signaling in specific gene populations.
Project Title Understanding the complexity of gene dosage imbalance in Down syndrome
Awardee

Children's Hospital of Philadelphia

Project Number 1R01HL151260-01
Funding Opportunity Announcement RFA-OD-19-016
Summary

This research will investigate the gene dosage imbalance in Down syndrome, and potentially provide a well-defined set of isogenic DS induced pluripotent stem cells (iPSCs) to probe the effects of trisomy 21 (T21) on genome-wide transcriptome and chromatin architecture.

Project Title Human iPSC Model for Elucidating Crosstalk Signaling and Secretomes: Down Syndrome Administrative Supplement
Awardee Stanford University
Project Number 1R01HL151260-01
Funding Opportunity Announcement RFA-OD-19-016
Summary

This research assess whether overexpression of cardiac-specific, dosage-sensitive trisomic genes on chr21 leads to heart defects through impaired cardiac crosstalk and myocyte maturation.

Project Title

Bronchus-Associated Lymphoid Tissue & Lung Infection in Down Syndrome

Awardee University of Colorado Denver
Project Number 1R21HL151256-01
Funding Opportunity Announcement RFA-OD-19-015
Summary

This research will test whether lower levels of Bronchus-associated lymphoid tissue (BALT), which controls a variety of immune and inflammatory responses, leads to increased respiratory tract infections (RTI) in patients with Down syndrome.

Project Title Molecular Causes of Down Syndrome Associated Congenital Heart Disease and Other Phenotypes
Awardee

Harvard Medical School

Project Number

1R01HL151257-01

Funding Opportunity Announcement RFA-OD-19-016
Summary

This project will use state of the art genomics technologies to identify genetic mechanisms for Down syndrome phenotypes.

Project Title Clinical and Translational Science Award
Awardee

Columbia University Health Sciences

Project Number

5UL1TR001873-04

Funding Opportunity Announcement

PAR-15-304

Summary

The project will reprogram established fibroblast lines from older DS subjects with and without concomitant AD into induced pluripotent stem cells (iPSCs) and then differentiate these iPSCs into neurons and then into cortical organoids (mixed cortical neuron and astrocyte 3D culture). These organoids will be used to perform transcriptomic analysis and to examine differences in neuronal development and function.

Project Title

Accelerating Clinical Research on Down Syndrome at the CCTSI and Beyond

Awardee

University of Colorado Denver

Project Number

5UL1TR002535-02

Funding Opportunity Announcement RFA-OD-19-016
Summary

The project will complete the pan-omics analysis of a cohort of patients with Down syndrome and controls, and allow investigators to complete abstraction of demographics and clinical data and generation of key -omics datasets for 300 participants (200 DS and 100 Age/gender matched controls) already enrolled in the Crnic Institute’s Human Trisome Project (HTP) Biobank.

2018

Project Type New Projects within Current Research
Awardees
Summary These supplements support research to improve the understanding of the biology of Down syndrome and to development new treatments for health conditions experienced by individuals with Down syndrome.
Project Type New Projects within Current Research
Awardees
Summary These supplements support research focused on connecting large study populations, or cohorts, of individuals with Down syndrome, and enrolling new participants at different ages. Data collected with this research will contribute to a better understanding of the full range of conditions experienced with individuals with Down syndrome across the lifespan.
Project Type New Projects within Current Research
Awardees
Summary These supplements support efforts to identify existing clinical trials that seek to address conditions common in individuals with Down syndrome to bolster recruitment and inclusion in more clinical studies across multiple clinical sites.

Past Funding Opportunities

Notice Notice of Clarification of Application Submission Information for NOT-OD-19-071 "Notice of Availability of Competitive Supplements/Revisions for the INCLUDE (Investigation of Co-occurring Conditions across the Lifespan to Understand Down syndromE) Project
Notice Number NOT-OD-19-084
Post Date February 27, 2019
Expiration Date March 20, 2019
Notice INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Clinical Trial Readiness (R21 Clinical Trial Not Allowed)
Notice Number RFA-OD-19-015
Post Date February 5, 2019
Expiration Date March 15, 2019
Notice Transformative Research Award for the INCLUDE (Investigation of Co-occurring Conditions across the Lifespan to Understand Down syndrome) Project (R01 – Clinical Trial Not Allowed)
Notice Number RFA-OD-19-016
Post Date February 5, 2019
Expiration Date March 15, 2019
Notice Clinical Trials Development for Co-Occurring Conditions in Individuals with Down syndrome: Phased Awards for INCLUDE (R61/R33 Clinical Trials Required)
Notice Number RFA-OD-19-018
Post Date February 5, 2019
Expiration Date March 15, 2019
Notice Notice of Availability of Competitive Supplements/Revisions for the INCLUDE (Investigation of Co-occurring Conditions across the Lifespan to Understand Down syndromE) Project (Competitive Supplement/Revision Clinical Trial Optional)
Notice Number NOT-OD-19-071
Post Date February 5, 2019
Expiration Date See listed due dates in Notice.

Funding Priorities by Institute and Center

Please see Frequently Asked Questions for contact information for participating Institutes and Centers.

National Cancer Institute (NCI)

  • Evaluation of the genetic, epigenetic, and epidemiologic factors associated with trisomy 21 that lead to greatly increased risk of childhood leukemias and that lead to the distinctive biological and clinical behavior of these leukemias.
  • Evaluation of the genetic, epigenetic, and epidemiologic factors associated with trisomy 21 that lead to reduced risk for selected childhood and adult solid tumors.
  • Characterization of the biological and clinical factors that drive the development of transient abnormal myelopoiesis (TAM) and its progression to acute myeloid leukemia (AML) in children with trisomy 21.
  • Mining and/or generation of -omics datasets of clinically annotated specimens of Down syndrome acute lymphoblastic leukemia (ALL) and AML.
  • Translational research associated with completed/ongoing clinical trials to identify prognostic factors (e.g., minimal residual disease) that can be used to reliably guide treatment for children with leukemia associated with Down syndrome.

National Eye Institute (NEI)

  • Examining the potential to further the understanding of ocular pathologies frequently seen in Down syndrome (manifestations that include, but are not limited to, cataract, amblyopia, strabismus and refractive errors).
  • Examining the regulation or dysregulation of eye development in Down syndrome are also encouraged. Interested applicants are advised to contact the NEI program officer prior to submitting an application.

National Heart, Lung, and Blood Institute (NHLBI)

  • Incorporation of individuals with Down syndrome into disease cohorts and clinical trials directed toward sleep apnea, congenital heart disease, pediatric pulmonary hypertension, and adult cardiovascular disease. This could include collection of tissue or blood specimens and –‘omics data generation and analysis (genomics, transcriptomics, metabolomics, etc.), imaging, computational modeling, or expansion of a clinical trial to include a number of Down syndrome cases necessary to provide sufficient statistical power for stratification. Studies are encouraged to leverage the DS-Connect® registry to identify potential participants.
  • Mining and/or generation of -omics datasets of heart, lung, blood, and sleep disorders for functions of genes on chromosome 21 or downstream of genes on chromosome 21.
  • Characterization in animal models of the morphological events occurring in early heart development that give rise to the specific forms of congenital heart disease that are the primary cause of death during the first year of life for infants born with Down syndrome.
  • Characterization of differentiation of disease-related tissue types in induced pluripotent stem cells (iPSCs) derived from cells from individuals with Down syndrome and compared to euploid iPSCs.
  • Identification of potential risk and resilience factors that make individuals with Down syndrome susceptible to transient or persistent blood disorders and congenital heart disease but protected from adult cardiovascular disease.

National Human Genome Research Institute (NHGRI)

  • Examining ethical, legal and social implications (ELSI) related to preimplantation and prenatal screening and testing for trisomy 21.
  • Studying how Down syndrome is understood by individuals, families, and specific subgroups within society.

National Institute on Aging (NIA)

  • Understanding the molecular mechanism underlying the interplay between aging and neurodegeneration in Down syndrome through (epidemiologic, genomic, and mechanistic studies), as well as examining mechanisms of resilience in Down syndrome individuals who remain free of dementia in the face of Alzheimer’s pathology. Of particular interest are studies generating and making available high-quality ‘omics’ data that can be used for downstream systems biology and other predictive modeling efforts.
  • Identification of sensitive neuropsychological measures of cognitive decline, imaging, blood-based, and genetic biomarkers associated with transition from normal aging to mild cognitive impairment to clinical dementia in adults with Down syndrome, as well as improved measures of quality of life.
  • Development of new technologies to help persons aging with Down syndrome.
  • Development of interventions to improve health, function, social engagement, productivity and quality of life of persons aging with Down syndrome, and to reduce risks for aging-related chronic diseases including dementia.   
  • Developing comparative studies of treatments, care plans and standardized care follow-up (similarly to those now operational in younger patients with Down syndrome) that could support better comorbidity management and health and well-being in the aging Down syndrome population.
  • Analysis of national trends and trajectories in physical and cognitive health (including Alzheimer’s/dementia) and function in the population of persons aging with Down syndrome, including disparities by race/ethnicity, gender and socioeconomic status.
  • Research that addresses the unique challenges related to the provision of care by families for adults with Down syndrome, including development of interventions to support family caregivers.

National Institute of Allergy and Infectious Diseases (NIAID)

  • Examination of immune system dysregulation in Down syndrome; its molecular basis, impact on health, including infections and autoimmunity, and intervention strategies.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  • Basic science studying chromosome silencing; white matter and brain development; gene therapy or prenatal therapy in animal models of Down syndrome to ameliorate the effects of trisomic gene dosage; studies of rodent models to understand cognition, behavior, and other aspects of the phenotype across different stages of development; development of novel tools for understanding the basic biology of Down syndrome, such as well-characterized induced pluripotent cell lines, cell and tissue repositories, new murine and other rodent models that can better replicate the chromosome regions syntenic to human chromosome 21 as well as reproduce the complex neurobehavioral and other phenotypic features of Down syndrome; and mechanisms to link to current model organism databases and resources.
  • Increasing the pool of individuals with Down syndrome for cohort studies, deep phenotyping, biospecimen collection, 'omics studies, and ultimately, clinical trials, such as through enhancements to recruitment, phenotyping services, and biobanks as well as pan-'omics approaches in readily available cohorts; strategies to recruit individuals from underrepresented racial and ethnic minorities as well as IDeA (Institutional Development Award) states with limited NIH funding to ensure representation from rural and medically underserved areas; approaches that capture the priorities of parents and individuals with Down syndrome; studies that facilitate linkages between pan-'omics data sets, patient-reported outcomes, electronic medical records, and DS-Connect® (https://DSConnect.nih.gov) to facilitate data sharing, data mining, and secondary uses; development and validation of sensitive, robust, and reproducible outcome measures for complex phenotypes such as cognition and behavior using tools such as the NIH ToolBox that can be used in clinical trials; studies to expand and extend the available biomarkers for studies of regression, aging, and dementia in adolescents and adults with Down syndrome; approaches that characterize developmental trajectories at transitional life stages for those with Down syndrome such as infant to child and adolescent to adult; and studies of risk and resilience for co-occurring conditions in Down syndrome.
  • Adding or expanding a Down syndrome component to an existing pharmacologic clinical trial for a condition common in Down syndrome but for which dosage and/or efficacy have not been established in this population; proposals that focus on clinical trial readiness to facilitate future clinical trials in those with Down syndrome such as through focused natural history studies or biomarker or clinical outcome assessment development; additions to existing clinical trial networks to establish the infrastructure necessary for clinical trials in those with Down syndrome, including efforts to link to existing datasets and add participants to DS-Connect®; studies to develop new therapeutics and interventions for people with Down syndrome; clinical trials in individuals with Down syndrome to treat co-occurring conditions such as sleep apnea, epilepsy, developmental regression, or others; and studies that explore the ethical, legal, and social implications of research on populations with reduced decisional capacity and optimal methods for obtaining informed consent in those with Down syndrome.

National Institute of Arthritis, Musculoskeletal and Skin Diseases (NIAMS)

  • Examining Arthritic (and other rheumatic), musculoskeletal, and skin anomalies and disorders in Down syndrome, and causes, treatment and prevention of arthritic (and other rheumatic), musculoskeletal, and skin complications throughout the lifespan in individuals with Down syndrome.

National Institute on Deafness and Other Communication Disorders (NIDCD)

  • Improving understanding of the natural history of communication disorders (hearing, balance/vestibular, voice, speech, language, taste and smell) throughout the lifespan in Down syndrome.
  • Early identification and clinical management of communication disorders throughout the lifespan in individuals with Down syndrome.

National Institute of Dental and Craniofacial Research (NIDCR)

  • Evaluating the genetic and epidemiologic factors in individuals with Down syndrome that are associated with dental, oral, and craniofacial health problems such as malocclusion, increased caries, periodontal diseases and advanced pain.
  • Proposing clinical trial readiness studies and clinical trials that develop or adapt existing behavioral, social, and/or organizational strategies to maximize oral health for individuals with Down syndrome, e.g., improve oral hygiene, ensure acceptability of dental care, increase access to oral care, improve caregiver support and effectiveness, etc.

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

  • Examining Down syndrome and obesity, urologic conditions, type 1 diabetes, autoimmune thyroid disease, and other autoimmune diseases within the purview of NIDDK

National Institute of Environmental Health Sciences (NIEHS)

  • Characterization of how environmental exposures are linked to cognitive/dementia phenotypic variations observed in individuals with Down syndrome.
  • Incorporation of animal models to explore how toxicity from environmental agents impact oxidative stress pathways which can exacerbate Down syndrome symptomology.
  • Exploration of the genetic susceptibility to environmental exposures influencing progression, onset, and/or severity of the complex clinical outcomes of individuals with Down syndrome.
  • Epidemiologic and mechanistic research studies aiming to understand the contribution of environmental exposures on subsequent co-morbidities and/or health factors of individuals with Down syndrome.

National Institute of Mental Health (NIMH)

  • Neurodevelopmental underpinnings of psychopathology, as well as the onset, developmental trajectories, and outcomes of mental health conditions across the lifespan, including depression, anxiety, and psychosis.
  • Research from a dimensional perspective is supported to identify fundamental components that span multiple disorders, such as attention, executive function or affective regulation, and may involve developing and/or validating biological markers, developing and/or validating methods or measures to assess domains of psychopathology, and testing integrative models within longitudinal frameworks to track trajectories of risk and protection.
  • Of interest are supplements relevant to Component 2 of the INCLUDE Research Plan, to add specific Down syndrome cohorts to develop validated measures of psychopathology for these individuals, and to elucidate the onset, course and functional outcomes, including risk and resilience, for individuals with Down syndrome who have comorbid psychopathology. Finally, NIMH has interest in discovery of specific genetic variants within the chromosome 21 critical region that have specific effects on mental health outcomes. NIMH will not support supplements relevant to Components 1 or 3 of the INCLUDE Research Plan.

National Institute on Minority Health and Health Disparities (NIMHD)

  • Including individuals with Down syndrome from NIH-designated health disparity populations (Blacks/African Americans, Hispanics/Latinos, American Indians/Alaska Natives, Asians, Native Hawaiians and Other Pacific Islanders, socioeconomically disadvantaged populations, underserved rural populations, and sexual and gender minorities) into existing clinical or community-based studies in sufficient number to
  • Intersectional stigma and discrimination and their impact on health and healthcare utilization.
  • Coping strategies, social support, and other protective factors related to chronic disease risk and outcomes.
  • Access to and quality of healthcare, including primary, specialty, and behavioral health care.
  • Evaluating the transition from child to adult healthcare and other service systems.

National Institute of Neurological Disorders and Stroke (NINDS)

  • Addition of a Down syndrome component to a basic research study related to cognitive decline and Alzheimer's disease;
  • Understanding the role of aberrant neurotrophin signaling in the cognitive and behavioral characteristics of Down syndrome;
  • Development and characterization of animal models of developmental delays, cognitive, dysfunction and cognitive decline in Down syndrome;
  • Determine the role of white matter in individuals with Down syndrome.

National Institute of Nursing Research (NINR)

  • Health promotion, disease prevention, health disparities, caregiving, management of symptoms, self-management, genetics, epigenetics, palliative care needs and care at the end of life.
  • Topics of special interest include integration of biological and behavioral sciences, application of new technologies to research questions, and improving the quality and effectiveness of interventions.

National Center for Advancing Translational Sciences (NCATS)

  • Engagement of patients and communities in all phases of the translational process
  • Integration of special and underserved populations in translational research across the human lifespan
  • Innovative processes to increase the quality and efficiency of translational research, particularly of multisite trials
  • Use of cutting-edge informatics.
  • NCATS is also interested in providing information about the resources available to support clinical research and development of Down syndrome cohorts, including the Recruitment Innovation Centers (RICs), Trial Innovation Centers (TICs), and the Clinical and Translational Science Awards (CTSA) Program. Program staff are also available to provide information on existing NCATS programs such as the Rare Diseases Clinical Research Network (RDCRN) and Therapeutics for Rare and Neglected Diseases (TRND) that may be a source of funding for INCLUDE-related projects.

National Center for Complementary and Integrative Health (NCCIH)

  • Understanding the use of mind and body approaches to improve cognitive function and for managing Down syndrome-associated health conditions (e.g., chronic pain, anxiety disorders, etc.)

Office of Research Infrastructure Programs (ORIP)

  • Enhancing existing and creating new animal models for Down syndrome.
  • Preference will be given to proposals that develop informative animal models and demonstrate their potential for investigating multiple phenotypic features of Down syndrome, rather than focusing on a specific phenotype of the disease.

Office of Strategic Coordination (Common Fund)

  • OSC will consider providing supplements to Common Fund-supported projects that propose to include relevant investigations of Down syndrome cohorts.

Please see Frequently Asked Questions for contact information for participating Institutes and Centers.

This page last reviewed on November 6, 2019