[In 1990], 10-year-old boy was presented to Theodore Tarby, a doctor specialising in rare childhood diseases.…
[S]oon Tarby had diagnosed a total of eight new cases, in children ranging from 20 months to 12 years old.
In every case, the child had the same distinctive facial features, the same delayed development – most couldn’t sit up, let alone walk – and, crucially, they were from the same region on the Arizona-Utah border, known as Short Creek.
Even more intriguingly, this region is polygynous. In this small, isolated community of Fundamentalist Church of Jesus Christ of Latter-Day Saints (FLDS) – a group that split from the LDS in the early 20th Century – the likelihood of being born with fumarase deficiency is over a million times above the global average.
“With polygyny you’re decreasing the overall genetic diversity because a few men are having a disproportionate impact on the next generation,” says Mark Stoneking, a geneticist at the Max Planck Institute for Evolutionary Anthropology, Germany. “Random genetic mutations become more important.”
Since inbreeding tends to uncover “recessive” mutations that would normally remain in hiding, studying these communities has helped scientists to identify many disease-causing genes.
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