New DNA reader could crack unsolved rare disease cases
NCT ID NCT07400913
First seen Feb 15, 2026 · Last updated Jun 16, 2026 · Updated 22 times
Summary
This study tests a new DNA sequencing method that reads long stretches of DNA to find hidden genetic changes causing rare diseases like albinism and intellectual disability. Researchers will analyze stored blood or DNA from 150 patients who haven't gotten a clear diagnosis yet. The goal is to see if this approach can detect methylation abnormalities (epimutations) that standard tests miss, potentially reducing diagnostic dead ends.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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CHU Bordeaux - Hôpital Pellegrin
Bordeaux, 33076, France
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