# Human Trisome Project - Latin America Network

> **NIH NIH U01** · UNIVERSITY OF COLORADO DENVER · 2024 · $2,693,143

## Abstract

PROJECT SUMMARY.
People with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display a unique clinical
profile across the lifespan. Early on, children with DS present stunted growth and neurodevelopmental delays.
Later in life, adults with DS experience an atypical form of accelerated ageing. Furthermore, they also experience
a differential clinical risk profile, marked by high risk of congenital heart defects, leukemias, autism spectrum
disorders, seizure disorders, autoimmune conditions, and Alzheimer’s disease, among others. Therefore,
research efforts investigating the mechanisms by which T21 causes the hallmarks of DS, as well as the factors
that modify these effects, will accelerate discoveries to improve health outcomes in this population.
Within this context, in 2016 we launched the Human Trisome Project (HTP), a natural history of study of DS,
including deep annotation of clinical metadata, cognitive phenotyping, a multidimensional biobank, and
generation of -omics datasets. The HTP has enrolled >1150 participants, >750 with T21, from all around the
USA. The HTP was one of the first studies that released data in INCLUDE Data Hub, including unpublished
multi-omics datasets and its biospecimen catalog. Despite these important efforts, the potential of the HTP
remains unfulfilled, as it does not capture the massive diversity of the global community with T21. Therefore, we
propose to develop an international component for the INCLUDE Project through the following Specific Aims:
1. To develop a network of research sites across Latin America. Led by a polyglottal and multicultural team
at the Linda Crnic Institute for Down Syndrome, we recently launched the HTP – Latin America Network to
support research activities in México, Colombia, Brazil, Argentina, and Chile. Each Latin America site provides
massive expertise through decades of managing the largest DS clinics in their respective countries, while also
contributing populations of unparalleled racial, ethnic, and cultural diversity.
2. To define the clinical and neurodevelopmental profile of Latinos with Down syndrome. Although Latinos
are the fastest growing segment of the population with DS in the USA, little is known about potential differences
in their developmental and clinical profiles. Therefore, we propose to complete a comprehensive annotation of
demographic information, social determinants of health, co-occurring conditions, and lifestyle factors.
3. To identify biosignatures associated with differential features of Latinos with Down syndrome. We will
complete a multi-omics investigation of the variable pathophysiology of DS in the Latino population, including
analyses of the genome, transcriptome, proteome, metabolome, immune system, and microbiome to define
associations between differential developmental and clinical features and underlying biological processes.
Altogether, our efforts will provide unmatched diversity to the INCLUDE Project in terms of the ...

## Key facts

- **NIH application ID:** 11001722
- **Project number:** 1U01HD116469-01
- **Recipient organization:** UNIVERSITY OF COLORADO DENVER
- **Principal Investigator:** Joaquin M. Espinosa
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $2,693,143
- **Award type:** 1
- **Project period:** 2024-09-20 → 2029-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11001722

## Citation

> US National Institutes of Health, RePORTER application 11001722, Human Trisome Project - Latin America Network (1U01HD116469-01). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/11001722. Licensed CC0.

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