# Supplement: CRISPR screens of population relevant genes governing toxicant resilience

> **NIH NIH R01** · UNIVERSITY OF FLORIDA · 2023 · $366,431

## Abstract

Summary
The goal of this supplement is to enhance diversity in the research workforce through support of a disabled
graduate student in response to PA-21-071(Research Supplement to Promote Diversity in Health-Related
Research). This supplement will enable the disabled student to work in the laboratory of the PI of parent grant
by providing support for his stipend and tuition, as well as allowing the hiring of a dedicated technical research
assistant for the components of the proposed work requiring fine motor capabilities. In addition, mentorship,
career development support, targeted training efforts, and reasonable accommodations will enable the student to
continue to pursue a scientific career while navigating the challenges presented by his disability. The parent
grant focuses on GXE interactions with exogenous stressors but posited application to GXE interactions with
endogenous stressors, such as a pre-existing monogenic genetic disorder, which is the focus of the supplement.
We selected the monogenic disorder, Friedrich’s ataxia (FRDA), a progressive neurodegenerative disorder most
commonly due to triplet repeat mutations in the frataxin gene. While triplet repeat length plays a role in the
disease presentation, other unknown genetic and environmental factors clearly contribute. We will assess the
capability of our novel targeted functional screening approach to identify genes which when disrupted could
modulate the cellular phenotype of FRDA. As with the parent grant, the work will focus on the set of ~1490
genes with common LOF mutations in the population and will assess functional effect by assessing changes in
the transcriptional phenotype of relevant cells. This work if successful could provide important insight into
common LOF variants that impact the presentation and progression of Friedrich’s ataxia. This functional
screening approach using transcriptional phenotypic endpoints could have general applicability to any genetic
disease and enable identification of potentially functionally significant and population relevant genetic variants
impacting the phenotypic manifestations of the disease.

## Key facts

- **NIH application ID:** 10720972
- **Project number:** 3R01ES033625-02S1
- **Recipient organization:** UNIVERSITY OF FLORIDA
- **Principal Investigator:** CHRISTOPHER D VULPE
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $366,431
- **Award type:** 3
- **Project period:** 2023-02-14 → 2026-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10720972

## Citation

> US National Institutes of Health, RePORTER application 10720972, Supplement: CRISPR screens of population relevant genes governing toxicant resilience (3R01ES033625-02S1). Retrieved via AI Analytics 2026-06-12 from https://api.ai-analytics.org/grant/nih/10720972. Licensed CC0.

---

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