# First person – Samia Pratt

PMC · DOI: 10.1242/dmm.052423 · Disease Models & Mechanisms · 2025-06-02

## TL;DR

This paper discusses a study on gene replacement strategies for treating MTRFR deficiency, a rare mitochondrial disease.

## Contribution

The study evaluates the feasibility of gene replacement as a potential therapeutic approach for MTRFR deficiency.

## Key findings

- Gene replacement strategies were tested for their potential to treat MTRFR deficiency.
- The research provides insights into therapeutic approaches for rare mitochondrial diseases.

## Abstract

First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping researchers promote themselves alongside their papers. Samia Pratt is first author on ‘
Evaluating the feasibility of gene replacement strategies to treat MTRFR deficiency’, published in DMM. Samia is a PhD student in the lab of Robert Burgess at The Jackson Laboratory, Bar Harbor, ME, USA, investigating potential gene therapeutics for rare inherited mitochondrial diseases and peripheral neuropathies.

## Linked entities

- **Genes:** MTRFR (mitochondrial translation release factor in rescue) [NCBI Gene 91574]
- **Diseases:** peripheral neuropathies (MONDO:0003620)

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12171092/full.md

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12171092/full.md

## References

1 references — full list in the complete paper: https://tomesphere.com/paper/PMC12171092/full.md

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Source: https://tomesphere.com/paper/PMC12171092