Defining Rare Disorders: A Profile of Judith Hall

By bringing genetics into clinical medicine, the University of British Columbia medical geneticist helped to identify the gene mutations responsible for many rare diseases.

Written byAnna Azvolinsky
| 8 min read

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At a 1978 genetics conference in Montana, Philip Pallister, then the clinical director of the Boulder River School and Hospital, asked medical geneticist Judith Hall and a group of other researchers a rather startling question: Should we dig up a decomposing baby?

“This story is ghoulish,” Hall tells The Scientist.

The baby had been born with extra fingers, had issues with its anal opening, and hadn’t survived more than a few hours after birth. The child’s father didn’t even know that his baby had died when the medical team asked him if they could perform an autopsy on the child. “He tore up the form and went to grieve with his wife,” Hall recalls. Three months later, the couple asked for the results of the autopsy, but without permission, the medical team hadn’t done one, and the baby had been buried.

At the conference, ...

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Meet the Author

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    Anna Azvolinsky received a PhD in molecular biology in November 2008 from Princeton University. Her graduate research focused on a genome-wide analyses of genomic integrity and DNA replication. She did a one-year post-doctoral fellowship at Memorial Sloan Kettering Cancer Center in New York City and then left academia to pursue science writing. She has been a freelance science writer since 2012, based in New York City.

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