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.

head shot of blond woman wearing glasses
| 8 min read

Register for free to listen to this article
Listen with Speechify
0:00
8:00
Share

ABOVE: © ISTOCKPHOTO.COM, Mohammed Haneefa Nizamudeen

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, ...

Interested in reading more?

Become a Member of

The Scientist Logo
Receive full access to digital editions of The Scientist, as well as TS Digest, feature stories, more than 35 years of archives, and much more!
Already a member? Login Here

Keywords

Meet the Author

  • head shot of blond woman wearing glasses

    Anna Azvolinsky

    Anna Azvolinsky is a freelance science writer based in New York City.

Published In

September 2019

Our Inner Neanderthal

Ancient secrets in the human genome

Share
May digest 2025 cover
May 2025, Issue 1

Study Confirms Safety of Genetically Modified T Cells

A long-term study of nearly 800 patients demonstrated a strong safety profile for T cells engineered with viral vectors.

View this Issue
iStock

TaqMan Probe & Assays: Unveil What's Possible Together

Thermo Fisher Logo
Meet Aunty and Tackle Protein Stability Questions in Research and Development

Meet Aunty and Tackle Protein Stability Questions in Research and Development

Unchained Labs
Detecting Residual Cell Line-Derived DNA with Droplet Digital PCR

Detecting Residual Cell Line-Derived DNA with Droplet Digital PCR

Bio-Rad
How technology makes PCR instruments easier to use.

Making Real-Time PCR More Straightforward

Thermo Fisher Logo

Products

fujirebio-square-logo

Fujirebio Receives Marketing Clearance for Lumipulse® G pTau 217/ β-Amyloid 1-42 Plasma Ratio In-Vitro Diagnostic Test

The Scientist Placeholder Image

Biotium Launches New Phalloidin Conjugates with Extended F-actin Staining Stability for Greater Imaging Flexibility

Leica Microsystems Logo

Latest AI software simplifies image analysis and speeds up insights for scientists

BioSkryb Genomics Logo

BioSkryb Genomics and Tecan introduce a single-cell multiomics workflow for sequencing-ready libraries in under ten hours