Tag Archive: Jeffrey Roizen

Mar 11 2019

In the News: National Clinical Research Award, Vitamin D and Obesity, Modern Healthcare Women Leaders, Mitochondrial Disorder Drug, Predicting Sepsis

Last week marked International Women’s Day (March 8), and while we recognize the remarkable women in science and healthcare at the Research Institute every day of the year, it seems especially fitting that this news roundup features some of those role models as they receive accolades and awards. Hematology researcher, Lindsey George, MD, was honored for her breakthrough work in developing a gene therapy for hemophilia B, while our CEO and President, Madeline Bell, ranked on the Top 25 Women Leaders list by Modern Healthcare. Meanwhile, in other news, researchers published findings on obesity and vitamin D, the use of machine learning for early sepsis detection, and a promising drug to treat some mitochondrial disorders.

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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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