# Suppressing Aneuploidy-associated phenotypes in Down syndrome

> **NIH NIH R01** · UNIV OF MASSACHUSETTS MED SCH WORCESTER · 2022 · $1,720,291

## Abstract

Project Summary
An abnormal number of chromosomes or aneuploidy accounts for most spontaneous abortions as
missegregation of a single chromosome during development is often lethal.Patients with trisomies for
chromosomes 13 or 18, which cause Patau and Edwards syndromes, respectively, are born with severe
developmental defects and die soon after birth. Only patients with trisomy 21, which causes Down
syndrome can live to adulthoodbut show cognitive disabilities, increased risk for leukemias, autoimmune
disorders, and clinical symptoms associated with premature aging. Importantly, the incidence of
aneuploidy increases with age in both somatic and germline tissues in apparently healthy individuals. The
mechanisms by which aneuploidy affects cellular functionto cause Down syndrome or promote aging are
not understood. Our preliminary data reveal that aneuploidy disrupts the integrity and morphology of the
nuclear membrane. Because mutations that affect nuclear morphology cause premature aging, we
hypothesize that the aneuploidy effects on the nucleus drive phenotypic anomalies associated with
premature aging in Down syndrome. Here, we plan to identify the mechanisms through which aneuploidy
affects the nucleus, to investigate how an abnormal nucleus contributes to the pathophysiology of trisomy
21, and to target biochemical pathways so as to suppress aneuploidy-associated phenotypes in trisomy
21 cells.

## Key facts

- **NIH application ID:** 10536927
- **Project number:** 1R01HD107873-01A1
- **Recipient organization:** UNIV OF MASSACHUSETTS MED SCH WORCESTER
- **Principal Investigator:** Eduardo Martin Torres
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $1,720,291
- **Award type:** 1
- **Project period:** 2022-09-01 → 2025-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10536927

## Citation

> US National Institutes of Health, RePORTER application 10536927, Suppressing Aneuploidy-associated phenotypes in Down syndrome (1R01HD107873-01A1). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10536927. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*