# Insights to Noncoding Disease Variants using Mosaic Diseases

> **NIH NIH DP2** · UNIVERSITY OF CALIFORNIA, SAN DIEGO · 2021 · $369,482

## Abstract

Next-generation sequencing technologies have revolutionized the ability to identify genetic
changes associated with disease. Historically, it was expected that most disease-causing
mutations would affect the parts of the genome encoding proteins, but accumulating evidence
indicates the importance of mutations in non-protein coding genome regions. Compared to
proteins, the disease significance of non-coding regions is still poorly understood.
This goal of this proposal is to better understand the non-protein coding genomic regulators of
skin disease by focusing on subjects with uncommon mosaic forms of disease using a
multimodal approach that combines chromatin profiling and whole genome sequencing. Genetic
variations will be functionally characterized by regenerating candidate mutant disease
genotypes in human organoids, as well as by rescuing disease organoid tissues by genetic
correction of the underlying noncoding mutation. At the end of this proposal, we aim to better
understand non-coding genomic regulators of tissue development by innovating a combined
strategy of rare mosaic disease research and multi-omics approaches.

## Key facts

- **NIH application ID:** 10244405
- **Project number:** 1DP2HG012441-01
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN DIEGO
- **Principal Investigator:** Bryan Sun
- **Activity code:** DP2 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $369,482
- **Award type:** 1
- **Project period:** 2021-09-20 → 2023-10-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10244405

## Citation

> US National Institutes of Health, RePORTER application 10244405, Insights to Noncoding Disease Variants using Mosaic Diseases (1DP2HG012441-01). Retrieved via AI Analytics 2026-06-10 from https://api.ai-analytics.org/grant/nih/10244405. Licensed CC0.

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