Tag Archive: Genetic mutation

Apr 3 2019

Collaborators Uncover Genetic Basis of Very Early Onset Inflammatory Bowel Disease

By Barbara Drosey

It’s easy to see how Marcella Devoto, PhD, and Judith Kelsen, MD, work so well together. Their work is imperative, but they also are quick to laugh while falling in and out of side conversations about their research in the sort of shorthand longtime collaborators enjoy.

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Mar 6 2018

Is an Uncommon Genetic Mutation Linked to Vitamin D-dependent Rickets?

The Findings:

Researchers identified a genetic mutation in CYP3A4 that is linked to vitamin D-dependent rickets (VDDR), a childhood disorder associated with impaired growth and skeletal mineralization. Scientists already knew about two other genetic forms of VDDR, but this third kind is caused by a gain-in-function mutation — a random genetic change that confers a new function on a gene — that leads to accelerated inactivation of vitamin D metabolites. This is a new insight into vitamin D metabolism.

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