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

> **NIH NIH R21** · UNIVERSITY OF CALIFORNIA, SAN DIEGO · 2020 · $116,612

## Abstract

PROJECT SUMMARY/ABSTRACT
Down syndrome (DS) is the most common chromosomal disorder with an occurrence of 1 in 700 births. It is, by
far, the leading known cause of intellectual disability. The longevity of DS people has thankfully increased and
several health issues have subsequently emerged, sharing commonality with Alzheimer’s disease (AD). DS is
caused by an additional chromosome to the normal 21st pair (Trisomy 21). Chromosome 21 encodes several
genes contributing to AD, including proteins that phosphorylate tau, which causes tauopathy in the brain and
eye. Multiple ocular anomalies, including cataracts, occur at a much higher frequency starting at younger ages
for people with DS. These ocular disorders are associated with A and also tau.
To carefully understand the contribution and role of tau in the eye, we adapt a technology platform for the
discovery of a panel of nanobodies (Nbs) for A in our parent grant that can be used as specific probes to
investigate the histological distribution of tau in the eye (retina and lens tissue). These Nbs would allow us to
identify overlooked and potentially rare tau forms and their localization in DS eyes, perhaps yielding also some
important insights for AD. For this supplement, our specific aims mirror those of our parent grant for tau: (1)
Discover, produce, and validate Nbs against different conformations of tau forms and (2) Test and validate our
panel of Nbs using eye tissues and lens from AD mouse models recapitulating DS.

## Key facts

- **NIH application ID:** 10130996
- **Project number:** 3R21EY031277-02S1
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN DIEGO
- **Principal Investigator:** GEOFFREY A CHANG
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $116,612
- **Award type:** 3
- **Project period:** 2019-09-30 → 2021-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10130996

## Citation

> US National Institutes of Health, RePORTER application 10130996, Down syndrome, early cataracts, eye diseases, and beta-amyloid conformers (3R21EY031277-02S1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10130996. Licensed CC0.

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