Story perspectives

New Genetic Test Revolutionizes XDP Diagnosis, Identifies Misdiagnoses

11/16/2025

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Summary

Story summary

Researchers at Brigham and Women's Hospital and Harvard Medical School developed a genetic test for X-linked dystonia-parkinsonism (XDP).
The assay targets changes in the TAF1 gene missed by standard testing.
The test identified all known XDP cases and diagnosed two misidentified patients.
Dr. Eirini Christodoulou (Brigham and Women's Hospital and Harvard Medical School) led the study.
Findings will be presented at the Association for Molecular Pathology annual meeting in Boston.

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Story summary

Researchers at Brigham and Women's Hospital and Harvard Medical School developed a genetic test for X-linked dystonia-parkinsonism (XDP).
The assay targets changes in the TAF1 gene missed by standard testing.
The test identified all known XDP cases and diagnosed two misidentified patients.
Dr. Eirini Christodoulou (Brigham and Women's Hospital and Harvard Medical School) led the study.
Findings will be presented at the Association for Molecular Pathology annual meeting in Boston.