# Dual Genome Omics: Adapting Genomics Techniques to Reveal Molecular Pathology in Mitochondrial Disease

> **NIH NIH K08** · MASSACHUSETTS GENERAL HOSPITAL · 2024 · $200,880

## Abstract

PROJECT SUMMARY
Mitochondrial disorders are rare, often devastating genetic diseases affecting the brain, muscle, and other
organs caused by genetic failure of mitochondria, cellular structures that produce most of the cell’s energy.
Critically, there are no proven lab tests to track mitochondrial disease progression and no FDA-approved
therapies. Many hurdles exist to studying mitochondrial disorders in order to change this, two of which we
address in this project. First, because they are often most severely affected, earlier studies of mitochondrial
disease have focused on patient biopsy samples such as skeletal muscle that require surgery to obtain. Based
on clinical and research data, we are using blood instead, allowing us to collect many more samples without
painful and expensive procedures. Second, two sets of genes—nuclear and mitochondrial—are needed to
make mitochondria; and most methods used to study genes and their functional status can only be used to
examine one type. We are using modified techniques to allow us to study the presence of damaged
mitochondrial genes and functional status of nuclear genes at the same time. Using these two new
approaches, we have discovered a new cell type-specific pattern of damaged mitochondrial genes. In this
proposal, we aim to determine if cell type-specific patterns of damaged mitochondrial genes track with disease
progression, how these patterns arise, and how the amount of damaged mitochondrial genes related to
mitochondrial function in single cells. If successful, these experiments will improve our understanding of how
genetic changes cause the symptoms of mitochondrial disease and may lead to theories of how to develop
clinical lab tests for mitochondrial disease severity and, potentially, theories of how to treat mitochondrial
disorders.

## Key facts

- **NIH application ID:** 10811700
- **Project number:** 5K08NS117889-04
- **Recipient organization:** MASSACHUSETTS GENERAL HOSPITAL
- **Principal Investigator:** MELISSA Anne WALKER
- **Activity code:** K08 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $200,880
- **Award type:** 5
- **Project period:** 2021-05-01 → 2026-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10811700

## Citation

> US National Institutes of Health, RePORTER application 10811700, Dual Genome Omics: Adapting Genomics Techniques to Reveal Molecular Pathology in Mitochondrial Disease (5K08NS117889-04). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10811700. Licensed CC0.

---

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