# First person – Vanessa Gomez

PMC · DOI: 10.1242/dmm.052550 · Disease Models & Mechanisms · 2025-07-28

## TL;DR

Vanessa Gomez discusses her research on PEX gene variants and their role in peroxisome biogenesis disorders.

## Contribution

The study distinguishes severity levels of PEX gene variants in peroxisome biogenesis disorders.

## Key findings

- Identified PEX gene variants associated with mild, severe, and atypical peroxisome biogenesis disorders.
- Provided insights into the relationship between gene variants and disease phenotypes.

## 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. Vanessa Gomez is first author on ‘
Distinguishing PEX gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders’, published in DMM. Vanessa is a Research Assistant in the lab of Michael F. Wangler at Baylor College of Medicine, Houston, TX, investigating rare human disease phenotypes to advance our understanding of biological principles that govern health and disease.

## Linked entities

- **Genes:** PHEX (phosphate regulating endopeptidase X-linked) [NCBI Gene 5251]

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12352284/full.md

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12352284/full.md

## References

1 references — full list in the complete paper: https://tomesphere.com/paper/PMC12352284/full.md

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Source: https://tomesphere.com/paper/PMC12352284