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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

When An Arm Is Really A Leg

December 14, 2012

Tags: homeotic

The hands of a person with Liebenberg syndrome may actually be feet. (Credit: Dr. Malte Spielmann)
Flipping the X-ray showed Stefan Mundlos, MD, that his hunch was right – the patient’s arms were so odd and stiff because the elbows were actually knees.

The recent report from Dr. Mundlos’ group at the Max Planck Institute for Molecular Genetics, complete with a genetic explanation for the condition, flew under the radar of the press-release-driven science news aggregators. But I noticed it because I worked on this sort of thing in grad school – flies with legs growing out of their heads. (more…)

Kids With 2 Upper Jaws -- And My Fruit Flies

May 13, 2012

Tags: homeotic, Drosophila melanogaster, Michael L. Cunningham, Ricki Lewis, American Journal of Human Genetics

3D CT scan of child with ACS. Lower jaw is small and malformed (left); same aged child with normal jaw (middle); lower jaw of child with ACS inverted over upper jaw of normal skull (right). (Credit: Image courtesy of Seattle Children’s).
Body-Altering Mutations – In Children and Flies

I became a science writer, circa 1980, because I didn’t think flies with legs growing out of their heads – my PhD research – had much to do with human health. So when I spied “A Human Homeotic Transformation” way down on the Table of Contents in the May issue of the American Journal of Human Genetics, I was as riveted as a normal person would be getting a copy of People with a celebrity on the cover. (more…)

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