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STAT News ·For the curious

A Mother-daughter Quest to Find Fellow Members of an Ultra-rare Genetic Community

by Deepa Fernandes

Published 2026-10-08 08:30:00+00:00

How do you find your people when only 337 of them exist in the world?

0:00 / 23:37 · Narrator Sulafat

Context

A medical diagnosis usually comes with a prescription or a treatment plan. But in this piece published on 8 October 2026, a mother and daughter face a genetic condition so rare that science barely knows it exists. The reporting zeroes in on a blind spot in the health system: what happens when a disease affects too few people to attract research money. It captures the isolation that follows an ultra-rare diagnosis, showing how families are forced to build their own communities and fund their own science just to figure out what comes next.

Show notes

A medical history and scientific overview of Nicolaides-Baraitser syndrome, an ultra-rare genetic condition with only 337 known cases worldwide. A mother and her diagnosed teenage daughter travel across Europe and the United States to interview the doctors who first identified the syndrome in the 1990s. The reporting outlines the ongoing push to fund mouse-model research and epigenetic therapies, as well as the formation of a global patient network.

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