Trailblazing Friedreich’s Ataxia Researcher Wins American Chemical Society Award

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by Magdalena Kegel |

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FA researcher wins award

A University of Pennsylvania medical professor has won an American Chemical Society award for his pioneering work on the molecular abnormalities that underpin Friedreich’s ataxia.

Dr. Ian A. Blair received the 2017 Founders’ Award from the society’s Division of Chemical Toxicology for helping to increase understanding of the abnormalities.

Blair is the A.N. Richards Professor of Pharmacology and director of the Center for Cancer Pharmacology at the University of Pennsylvania’s Perelman School of Medicine.

His work has been centered on mass spectrometry, which measures the properties of individual molecules. Using the technique, he has contributed to advances in knowledge about the disease and to the development of treatments for it.

In 2016, his lab showed that Friedreich’s ataxia patients have metabolic alterations that can be measured in their platelets.

Among other things, the study found higher levels of acyl-CoA thioesters, which are crucial to many metabolic processes. As an example, they are involved in placing chemical acetyl groups on proteins that help control cells’ gene activity. The analysis also showed that FA patients had lower levels of glucose in their platelets.

The research suggested that it was feasible to use platelets to monitor disease changes in a minimally invasive way. That is important for assessing the effectiveness of drugs tested in clinical trials.

Blair also the first to discover abnormalities in a factor called ApoA1 in Friedreich’s ataxia. He also learned that the molecule is related to the risk of coronary heart disease in smokers.

The professor has also been a trailblazer in the use of biomarkers of cancer, cardiovascular disease, and neurodegenerative disorders. As part of his work, he invented a mass spectrometry method.

His expertise is mirrored in his many academic appointments. In addition to his position at Penn, he holds positions at Makerere University in Uganda, Adelaide University in Australia, the Royal Postgraduate Medical School — now part of the Imperial College School of Medicine in the United Kingdom, Vanderbilt University, and Kanazawa University in Japan.

He also directs the Penn Superfund Research and Training Program Center, which was established in 2014.