Funding

New Funding Opportunities

Notice Notice of Change to NOT-OD-20-024: Availability of Administrative Supplements for the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project
Notice Number NOT-OD-21-076
Release Date March 19, 2021
Application Due Date(s)

May 12, 2021, July 23, 2021, November 23, 2021, March 23, 2022, July 23, 2022

Expiration Date July 24, 2022
Notice

Notice of Change to NOT-OD-20-025: Notice of Special Interest (NOSI): NIH Research Project Grants on Down Syndrome (R01) for the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project

Notice Number NOT-OD-21-077
Release Date March 19, 2021
Application Due Date(s) June 5, 2021, October 5, 2021
Expiration Date January 7, 2022
Notice Notice of Special Interest (NOSI): Administrative Supplements to NCATS CTSA Program KL2 Institutional Career Development Awards as part of the INCLUDE (Investigation of Co-occurring Conditions across the Lifespan to Understand Down syndrome) Project
Notice Number NOT-OD-21-001
Release Date September 25, 2020
Application Due Date(s) November 1, 2021, November 1, 2022
Expiration Date November 2, 2022
Notice Notice of Special Interest (NOSI) regarding the Availability of Urgent Competitive Revisions and Administrative Supplements for Research on Coronavirus Disease 2019 (COVID-19) in Individuals with Down Syndrome for the INCLUDE Project
Notice Number NOT-OD-20-129
Release Date June 25, 2020
Application Due Date(s) March 12, 2021, July 12, 2021
Expiration Date July 13, 2021
Notice Clinical Trials Development for Co-Occurring Conditions in Individuals with Down syndrome: Phased Awards for INCLUDE (R61/R33 Clinical Trial Required)
Notice Number RFA-OD-20-003
Release Date December 13, 2019
Application Due Date(s) November 3, 2021
Expiration Date November 4, 2021
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-20-004
Release Date December 13, 2019
Application Due Date(s) November 3, 2021
Expiration Date November 4, 2021
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-20-005
Release Date December 13, 2019
Application Due Date(s) November 3, 2021
Expiration Date November 4, 2021
Notice Small Research Grants for Analyses of Down Syndrome-related Research Data for the INCLUDE Project (R03 Clinical Trial Not Allowed)
Notice Number RFA-OD-20-006
Release Date December 13, 2019
Application Due Date(s) November 3, 2021
Expiration Date November 4, 2021
Notice Notice of Special Interest: Mentored Career Development Awards to Foster the Careers of Investigators Pursuing Research Related to Down syndrome as Part of the INCLUDE Project
Notice Number NOT-OD-20-021
Release Date December 6, 2019
Application Due Date(s) February 12, 2021; June 12, 2021; October 12, 2021
Expiration Date January 8, 2022
Notice Notice of Special Interest: Ruth L. Kirschstein National Research Service Award (NRSA) Fellowship Awards to Support Training in Research Related to Down Syndrome as Part of the INCLUDE Project
Notice Number NOT-OD-20-020
Release Date December 6, 2019
Application Due Date(s) April 8, 2021; August 8, 2021; December 8, 2021
Expiration Date January 8, 2022
Notice Notice of Special Interest (NOSI): NIH Research Project Grants on Down Syndrome (R01) for the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project
Notice Number NOT-OD-20-025
Release Date December 18, 2019
Application Due Date(s) February 5, 2021; June 5, 2021; October 5, 2021
Expiration Date January 8, 2022
Notice Notice of Special Interest (NOSI): Availability of Administrative Supplements for the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project
Notice Number NOT-OD-20-024
Release Date December 18, 2019
Application Due Date(s) March 23, 2021; March 23, 2022
Expiration Date March 24, 2022
Notice Notice of Special Interest (NOSI): Competitive Supplements/Revisions (R01) Available for INCLUDE (Investigation of Co-occurring Conditions across the Lifespan to Understand Down syndromE) Project (Competitive Supplement/Revision Clinical Trial Optional)
Notice Number NOT-OD-20-023
Release Date December 18, 2019
Application Due Date(s) March 5, 2021; July 5, 2021; November 5, 2021; March 5, 2022; July 5, 2022
Expiration Date September 8, 2022
Notice Notice of Special Interest (NOSI): Development of Animal Models of Down Syndrome and Related Biological Materials as Part of the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project
Notice Number NOT-OD-20-017
Release Date December 18, 2019
Application Due Date(s)
  • For R24 applications submitted via RFA-OD-19-027: May 26, 2021, September 28, 2021 and January 26, 2022, May 26, 2022
  • For R21 applications submitted via PAR-19-369: February 16, 2021; June 16, 2021; October 16, 2021; February 16, 2022; June 16, 2022
Expiration Date September 9, 2022

Funded Projects

2020

Project Title Polyamines in Down syndrome-Alzheimer’s disease
Awardee University of Denver, Colorado Seminary
Project Number 1R21AG070297-01
Funding Opportunity Announcement RFA-OD-20-004
Summary This study will explore whether alterations in polyamine content contribute to the development of Alzheimer’s disease pathology by examining human brain tissue and neuronal cell cultures from Down syndrome mice.
Project Title Strategies for treatment of Down syndrome: Identifying age- and sex-specific developmental windows using inducible genetic reduction of Dyrk1a
Awardee Indiana University, Purdue University at Indianapolis
Project Number 1R01AR078663-01
Funding Opportunity Announcement RFA-OD-20-005
Summary This study will use both murine and cell-based models to explore the timing and expression of Dyrk1a, a critical gene on chromosome 21, during specific windows of development to determine if there are sex-dependent differences in Down syndrome bone and cognitive phenotypes. 
Project Title Noradrenergic dysfunction in Down syndrome
Awardee University of Denver, Colorado Seminary
Project Number 1R01AG070153-01
Funding Opportunity Announcement RFA-OD-20-005
Summary This study will utilize Designer Receptor (DREADDs) technology to regulate the noradrenergic neurons in the locus coeruleus and evaluate how their loss contributes to neuropathology, vascular changes, and memory loss in mouse models of Down syndrome.
Project Title Multiplexed Single Nucleus RNA and ATAC-seq Sequencing and Cortical Organoids: Transformative Insights into Down Syndrome
Awardee University of California, San Diego 
Project Number 1R01AG070154-01
Funding Opportunity Announcement RFA-OD-20-005
Summary This study will explore neurodevelopment and Alzheimer’s disease pathology through the lens of single nucleus sequencing techniques using brain samples from individuals with Down syndrome, mouse models of Down syndrome, and cortical organoid cultures from induced pluripotent stem cells derived from individuals with Down syndrome.
Project Title Down syndrome as a systemic autophagy deficiency disorder
Awardee University of Colorado, Denver 
Project Number 1R01HD103828-01
Funding Opportunity Announcement RFA-OD-20-005 
Summary This study will test if deficits in autophagy (cellular recycling) in Down syndrome result in enhanced clonal hematopoiesis that may underlie the increased susceptibility to leukemia and other conditions in people with Down syndrome. 
Project Title Characterizing Innate Immune Dysregulation in Tonsils of Individuals with Down Syndrome
Awardee University of Colorado, Denver 
Project Number 1R01HL155691-01
Funding Opportunity Announcement RFA-OD-20-005
Summary This study will address how the triplication of the four interferon receptors (IFNAR1, IFNAR2, IFNGR2, and IL-10RB) on chromosome 21 may account for differences in immune cell function in tonsillar tissue obtained from those with Down syndrome and typical control subjects. 
Project Title Discovery of susceptibility genes for Down syndrome-associated congenital heart defects using whole genome sequencing
Awardee Emory University 
Project Number 1R03HL156476-01
Funding Opportunity Announcement RFA-OD-20-006
Summary This study will analyze whole genome sequences of individuals with Down syndrome and atrioventricular septal deficits (AVSD), other congenital heart defects, and structurally normal hearts to characterize the genetic contributors and risk factors for AVSD and better understand heart development in Down syndrome.
Project Title Measuring global, loci-specific RNA degradation to interrogate RNA dysregulation in down syndrome during development
Awardee University of Colorado
Project Number 1R03HD103995-01
Funding Opportunity Announcement RFA-OD-20-006
Summary This study will identify the genes that contribute to comorbidities in individuals with Down syndrome and quantify the degree to which RNA transcription and degradation rates are altered in induced pluripotent stem cells and differentiated neural progenitor cells from individuals with trisomy 21. 
Project Title Systems biology analyses to identify driver genes in Down syndrome-related ALL
Awardee St. Jude Children’s Research Hospital 
Project Number 1R03HD103908-01
Funding Opportunity Announcement RFA-OD-20-006
Summary This study will address questions of why children with Down syndrome have an increased risk of acute lymphoblastic leukemia (ALL) and how their leukemia differs from that of children without Down syndrome based on a large genomic profiling project in these individuals.
Project Title Data Management and Portal for the INCLUDE (DAPI) Project
Awardee Children’s Hospital of Philadelphia 
Project Number 1U2CHL156291-01
Funding Opportunity Announcement RFA-OD-20-007
Summary This project will create a Data Coordinating Center to support investigations of a large cohort of people with Down syndrome for data sharing, data access, and integrative analysis to enable novel investigations into Down syndrome comorbidities across the lifespan. 
Project Title CTSA KL2 Supplement Rebecca Grzadzinski
Awardee University of North Carolina, Chapel Hill 
Project Number 3KL2TR002490-03S1
Funding Opportunity Announcement NOT-OD-20-022
Summary This training supplement will characterize longitudinal brain behavior trajectories and developmental profiles from infancy through school-age in children with Down syndrome compared to those with autism spectrum disorder.
Project Title Translating Measures of Visual Experience to Children with Autism and Down Syndrome
Awardee Indiana University, Purdue University at Indianapolis
Project Number 3KL2TR002530-03S1
Funding Opportunity Announcement NOT-OD-20-022
Summary This training supplement will determine how real-time visual experience within the home learning environment impacts language development for children with developmental delays, including Down syndrome and autism, and whether visual experience can be an outcome measure. 
Project Title Celiac disease signatures in Down syndrome (KL2 Admin Suppl)
Awardee University of Colorado, Denver 
Project Number 3KL2TR002534-03S1
Funding Opportunity Announcement NOT-OD-20-022
Summary This training supplement will leverage the Human Trisome Project to study the molecular signatures of celiac disease in Down syndrome, and will utilize a pan-omics approach to better understand the pathogenesis and potential biomarkers of celiac disease in those with and without Down syndrome. 
Project Title Vascular Health and Risk Factors in Children with Down Syndrome
Awardee University of Utah 
Project Number 3KL2TR002539-03S1
Funding Opportunity Announcement NOT-OD-20-022
Summary This training supplement will determine the prevalence of cardiovascular disease risk factors in children with Down syndrome and evaluate their effect on vascular markers of early atherosclerosis. 
Project Title Down syndrome, early cataracts, eye diseases, and beta-amyloid conformers
Awardee University of California, San Diego 
Project Number 3R21EY031277-02S1
Funding Opportunity Announcement NOT-OD-20-024
Summary Using specially developed nanobodies to different forms of the tau protein, this supplement project will determine the role of tau in retinal and lens tissues of the eye to better understand age-related cataract development and neurodegeneration in Down syndrome.
Project Title Bronchus-Associated Lymphoid Tissue & Lung Infection in Down Syndrome
Awardee University of Colorado, Denver 
Project Number 3R21HL151256-01S1
Funding Opportunity Announcement NOT-OD-20-024
Summary This supplement will explore the role of interferon signaling and immune response in bronchus-associated lymphoid tissue and the resulting impact on chronic respiratory tract infection and cognition in a mouse model of Down syndrome. 
Project Title Research Training in Rheumatology INCLUDE Down syndrome Supplement
Awardee University of Colorado, Denver 
Project Number 3T32AR007534-34S1
Funding Opportunity Announcement NOT-OD-20-024
Summary This training supplement will support a pediatric rheumatology fellow to investigate idiopathic pulmonary hemorrhage and other acute and chronic autoimmune lung disorders in Down syndrome.
Project Title Predoctoral Training Grant in Pharmacology INCLUDE Down Syndrome Supplement
Awardee University of Colorado, Denver 
Project Number 3T32GM007635-42S1
Funding Opportunity Announcement NOT-OD-20-024
Summary This project supplement will continue to support three graduate students in a Pharmacology Training Program that will explore the use of chemical and biological agents to affect biological systems and mitigate disease in Down syndrome-related neuroscience.
Project Title Clinical trials to prevent Alzheimer’s disease in Down syndrome 
Awardee University of Southern California
Project Number 3R61AG066543-02S1
Funding Opportunity Announcement NOT-OD-20-024
Summary This supplement will facilitate new biomarker assays on spinal fluid and blood samples as well as Tau PET imaging for participants in the Trial-Ready Cohort of adults with DS (TRC-DS) project in advance of a randomized, placebo-controlled clinical trial for Alzheimer’s disease in Down syndrome. 
Project Title Role of SARS-CoV-2 mediated type I IFN antagonism in individuals with Down syndrome 
Awardee Icahn School of Medicine at Mount Sinai
Project Number 3R01AI150300-01S1
Funding Opportunity Announcement NOT-OD-20-129
Summary This supplement will study the functional significance of the increased dose of type I interferon receptors in cells from individuals with Down syndrome to determine their response to infection with SARS-CoV-2 causing COVID-19.
Project Title Pre-clinical assessment of JAK inhibitors to ameliorate cytokine storms in Down syndrome
Awardee University of Colorado Denver 
Project Number 3R01AI145988-02S1
Funding Opportunity Announcement NOT-OD-20-129
Summary This supplement will test the ability of FDA-approved Janus Kinase (JAK) inhibitors to rescue the “cytokine storm” and multi-organ inflammation in a mouse model of Down syndrome that shares many properties with the immune hypersensitivity that can occur in SARS-Co-V-2/COVID-19 infection.
Project Title Impact of COVID-19 on the Mental Health of People with Down Syndrome 
Awardee Virginia Commonwealth University
Project Number 3K08HD92610-03S1
Funding Opportunity Announcement NOT-OD-20-129
Summary This supplement will examine the impact of COVID-19 pandemic-related stressors on the health and well-being of caregivers and people with Down syndrome. 
Project Title Interferon hyperactivity, COVID-19, and Down syndrome
Awardee University of Colorado Denver 
Project Number 3R01AI150305-01S1
Funding Opportunity Announcement NOT-OD-20-129
Summary This supplement will investigate the interplay between interferon hyperactivity, immune dysregulation, COVID-19 pathology, and immunity against SARS-CoV-2 by studying the clinical and immunological characteristics of COVID-19 in Down syndrome. 
Project Title IFN responses and SARS-CoV-2 Receptor ACE2 Expression in the airway epithelium of young children with Down Syndrome
Awardee Children’s Research Institute
Project Number 3R01HL141237-02S1
Funding Opportunity Announcement NOT-OD-20-129
Summary This supplement will investigate the interferon-driven antiviral and pro-inflammatory responses in airway epithelial cells obtained from young children with Down syndrome to better understand susceptibility to COVID-19 infection. 
Project Title The Role of Inflammation and NGF Dysfunction in the Evolution of Alzheimer Disease Pathology in Down Syndrome-Supplement 
Awardee University of California-Irvine
Project Number 3RF1AG056850-01A1S1
Funding Opportunity Announcement NOT-OD-20-129
Summary This supplement will incorporate additional inflammatory, Alzheimer’s disease (AD)-related, and neurodegeneration biomarkers in studies of people with Down syndrome and in Down syndrome tissues to study the exposure and severity of COVID-19 infection in trisomy 21.
Project Title Genetic-epigenetic and aging interactions at COVID-19 host response loci in Down syndrome and mouse models
Awardee Hackensack University Medical Center 
Project Number 3R01HD090180-05
Funding Opportunity Announcement NOT-OD-20-129
Summary This supplement will use both human samples and a mouse genetic model of COVID-19 susceptibility that will be generated to understand how host responses to the SARS-CoV-2 virus might differ in individuals with Down syndrome based on DNA methylation differences.
Project Title Early Cognitive Decline in Down Syndrome
Awardee University of Alabama in Tuscaloosa 
Project Number 1R01HD098179-01A1
Funding Opportunity Announcement PA-19-056
Summary This project seeks to identify domains of very early cognitive and motor decline prior to overt symptoms of cognitive impairment in youth with Down syndrome ages 15-25 years using a battery of neuropsychological and behavioral measures over three years. 
Project Title Enabling self-reported outcomes for youth with developmental disabilities: The Pediatric  Evaluation of Disability Inventory - Patient Reported Outcome (PEDI-PRO) - Phase II
Awardee Ablelink Technologies, Inc. 
Project Number 2R42HD090772-03A1
Funding Opportunity Announcement PA-19-270
Summary This Phase II small business award will build a clinically robust assessment software tool called PEDI-PRO to address the gaps in patient-reported outcome measures (PROMs) of functional abilities in youth aged 14-22 years with developmental disabilities, including Down syndrome.
Project Title Heart and vascular responses across the lifespan in Ts65Dn mice, a model of Down syndrome
Awardee Syracuse University
Project Number 1R21HD099573-01A1
Funding Opportunity Announcement PA-18-482
Summary This study will examine cardiovascular changes, including blood pressure, vascular tone, and endothelial function, related to age and sex in a mouse model of Down syndrome.
Project Title Preventing cognitive impairment in mouse genetic models of Down syndrome by early postnatal suppression of Kir3.2 channel signaling
Awardee University of California, San Diego 
Project Number 1R01HD100607-01A1
Funding Opportunity Announcement PA-19-056
Summary This study will examine the effects of increased dosage of the Kcnj6 gene (encoding a potassium channel) on neural circuits and cognitive impairment in a mouse model of Down syndrome. 
Project Title Development and treatment of skeletal deficits in a Down syndrome mouse model
Awardee Indiana University, Purdue University at Indianapolis
Project Number 2R15HD090603-02
Funding Opportunity Announcement PAR-18-714
Summary This project will evaluate differences in skeletal deficits between adolescent male and female mouse models of Down syndrome, determine the cellular basis for these differences, and explore the role of the trisomic Dyrk1a gene in these bone abnormalities. 
Project Title Dissecting the role of FMRP in RNA processing using human stem cell models
Awardee Broad Institute, Inc.
Project Number 1R01HD101534-01A1
Funding Opportunity Announcement PA-19-056
Summary This project will investigate the molecular mechanisms underlying the association between the RNA-binding protein, FMRP (whose loss causes Fragile X syndrome) and its RNA targets transcribed from chromosome 21, with the goal of understanding RNA processing deficits in both Down syndrome and Fragile X syndrome.  
Project Title Beyond Gene Dosage: Understanding Down Syndrome via 4D Genome Organization
Awardee University of Texas at Houston, Health Science Center
Project Number 1U01HL156059-01
Funding Opportunity Announcement RFA-RM-20-006
Summary This project will test the hypothesis that trisomy 21 deregulates the 3-dimensional genome and broadly impacts gene expression in Down syndrome cells by forming abnormal interactions between chromosomes through the use of epigenomic, transcriptomic, optogenetic and other techniques.
Project Title Lifestyle and Alzheimer’s Disease In Down Syndrome
Awardee University of Wisconsin–Madison
Project Number 1R01AG070028-01
Funding Opportunity Announcement NOT-OD-20-025
Summary This study will investigate the longitudinal associations of lifestyle factors (physical activity, sleep, cognitive stimulation, and social engagement) on early Alzheimer’s disease neuropathology, cognitive functioning, and dementia symptoms in adults with Down syndrome. 
Project Title Effects of Hypoglossal Nerve Stimulation on Cognition & Language in Down Syndrome
Awardee Massachusetts Eye and Ear Infirmary
Project Number 1R01DC019279-01
Funding Opportunity Announcement NOT-OD-20-025
Summary This clinical trial will test the effects of hypoglossal nerve stimulation treatment of obstructive sleep apnea (OSA) on neurocognition and expressive language in children and adolescents with Down syndrome. 
Project Title Exploring the role of gonadotropins in Down syndrome
Awardee University of North Texas Health Science Center
Project Number 1R21EY032320-01
Funding Opportunity Announcement RFA-OD-20-004
Summary This study will evaluate the role of gonadotropins and other factors to better understand the mechanisms underlying the ocular condition, keratoconus, that is common in the Down syndrome population.
Project Title Molecular Mechanisms of Defective Oligodendrocyte Differentiation in Down Syndrome
Awardee Boston University Medical Campus 
Project Number 1F31NS118968-01A1
Funding Opportunity Announcement PA-19-195
Summary Using trisomic induced pluripotent stem cell lines, this doctoral candidate will explore the molecular basis of altered oligodendrocyte development that may contribute to white matter abnormalities in the brain of individuals with Down syndrome.
Project Title Neural basis of locomotor dysfunction in Down syndrome
Awardee Children’s Research Institute 
Project Number 1R21NS119344-01
Funding Opportunity Announcement PA-18-358
Summary This project will identify specific alterations in the Purkinje cell circuitry of the cerebellum that result in locomotor and gait abnormalities in a mouse model of Down syndrome.
Project Title A Cognitive Test Battery for Intellectual Disabilities
Awardee University of California, Davis
Project Number 2R01HD076189-06A1
Funding Opportunity Announcement PA-18-480
Summary This project will fulfill knowledge gaps in the NIH Toolbox Cognitive Battery by completing development and validation of new tests for those with moderate and severe intellectual and developmental disabilities (IDD), including Down syndrome, and test its sensitivity to detect treatment-related changes in a trial of methylphenidate in children and adolescents with IDD and ADHD.    
Project Title RAT21: Generation and Characterization of Rat Models of Down Syndrome
Awardee University of Colorado Denver
Project Number 1R24HD105357-01
Funding Opportunity Announcement NOT-OD-20-017
Summary This project will develop and characterize rat models of Down syndrome on several strain backgrounds. 
Project Title Alzheimer Biomarker Consortium - Down Syndrome (ABC-DS)
Awardee University of Pittsburgh 
Project Number 1U19AG068054-01
Funding Opportunity Announcement PAR-19-374
Summary This project will continue to follow a cohort of adults with Down syndrome to identify amyloid, tau, and other biomarkers of neurodegeneration, as well as risk and resilience factors that modify the development of Alzheimer’s disease in this population to lay the framework for clinical trials. 
Project Title Molecular epidemiology of acute lymphoblastic leukemia in children with Down syndrome 
Awardee Baylor College of Medicine
Project Number 1R01CA249867-01
Funding Opportunity Announcement PA-19-056
Summary This study aims to determine the basis for the increased risk of acute lymphoblastic leukemia in children with Down syndrome by analyzing the genetic and genomic variants associated with leukemia and identifying the impact of Down syndrome-related phenotypes on leukemia susceptibility and outcomes.

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 individuals with 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 Special Interest (NOSI): Discovery of the Genetic Basis of Conditions Associated with Down Syndrome for the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project (X01)
Notice Number NOT-HD-20-039
Release Date December 16, 2020
Expiration Date February 20, 2021
Notice Notice of Special Interest (NOSI): Discovery of the Genetic Basis of Conditions Associated with Down Syndrome for the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project (X01)
Notice Number NOT-HD-20-039
Release Date December 16, 2020
Expiration Date February 20, 2021
Notice Notice of Special Interest (NOSI): Administrative Supplements to NCATS CTSA Program KL2 Institutional Career Development Awards as part of the INCLUDE (Investigation of Co-occurring Conditions across the Lifespan to Understand Down syndrome) Project
Notice Number NOT-OD-20-022
Release Date December 19, 2019
Expiration Date March 3, 2020
Notice Development of the INCLUDE (Investigation of Co-occurring Conditions across the Lifespan to Understand Down syndromE) Project Data Coordinating Center (U2C)
Notice Number RFA-OD-20-007
Post Date December 13, 2019
Expiration Date February 15, 2020
More Information
  • The application consists of four components: Overall, Administrative and Outreach Core, Data Portal Core and Data Management Cores.  Each component is allowed a Research Strategy section up to 12 pages and each will have a budget section. 
  • FAQ from INCLUDE Data Coordinating Center Pre-Application Webinar that INCLUDE Program staff hosted for prospective applicants. 
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.
  • Promote research to advance the application of genomics to medical science and clinical care of Down syndrome patients.
  • Promote basic genomics research and technology development for the function of trisomy 21.

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 genetic, molecular, or epidemiologic factors that are associated with oral health conditions in individuals with Down syndrome.
  • Examining mechanisms of dental, oral, and craniofacial health problems that co-occur in individuals with Down syndrome.
  • Developing methods and strategies to prevent, diagnose, and treat oral health conditions that are unique to individuals with Down syndrome.
  • 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, and improve caregiver support and effectiveness.

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, memory, 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.
  • Discovery of specific genetic variants on chromosome 21 or epigenetic effects of chromosome 21 trisomy that have specific effects on mental health outcomes. Functional validation of the effects of these putative mental health relevant genetic/epigenetic impacts on molecular pathways or cell function is also desired. See the NIMH Genomics Council Work Group Report or the recent nature article for more details on desired genomics research at NIMH. Validation studies involving animals should refer to the Notice of NIMH’s Considerations Regarding the Use of Animal Neurobehavioral Approaches in Basic and Pre-clinical Studies.
  • 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. Supplements relevant to components 1 on existing basic science projects will also be considered. NIMH will not support supplements relevant to component 3 of the INCLUDE Research Plan at this time.

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)

  • NINR is interested in applications related to caregiving and caregivers for individuals with Down syndrome.
  • For fellowship (F) awards, NINR will only accept applications to provide support for individuals who have a Bachelor’s degree or higher in nursing to pursue graduate research training that leads to a research doctoral degree. Only nurse applicants are accepted for this program. Applicants are encouraged to submit applications during the first three years of training to ensure that the award will support at least one year of research training. NINR will only accept F31 and F32 applicants.
  • For career (K) awards NINR will only accept applications from research doctorate-prepared applicants who have a Bachelor's degree or higher in nursing. NINR will only accept K01 and K23 applicants.

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.

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

This page last reviewed on March 19, 2021