maandag 5 november 2018

The 2018 Ross Prize in Molecular Medicine will be awarded to Dr. Huda Y. Zoghbi for her research unveiling the genetic and molecular basis of Rett syndrome and spinocerebellar ataxia, enabling novel therapeutic strategies for these devastating diseases. Complemented by fundamental studies in neurodevelopment, Dr. Zoghbi continues to pursue the complex molecular processes driving the pathogenesis of some of the most devastating neurological conditions.

The Ross Prize in Molecular Medicine was established in conjunction with the Feinstein Institute for Medical Research and Molecular Medicine to recognize biomedical scientists whose discoveries transformed the way medicine is practiced. The awardees are midcareer researchers who have made a significant impact in the understanding of human disease pathogenesis and/or treatment. Moreover, it is anticipated that they will continue to make profound advances in the general field of molecular medicine.

On the exact same day in 1993, both Dr. Huda Zoghbi and Dr. Harry Orr independently discovered the mutation responsible for SCA1. But this wasn’t a simple genetic deletion or point mutation. Zoghbi and Orr found that the affected gene, ATXN1, has a repetitive CAG trinucleotide sequence, also known as a polyglutamine tract. They discovered that this region is prone to errors during DNA replication, resulting in expansion of the polyglutamine tract. Healthy patients have ~30 CAG repeats in ATXN1, while SCA1 patients have 40 or more. In families affected with SCA1, the number of CAG repeats increases with each generation, correlating with increased severity and an earlier age of disease onset.

Zoghbi’s lab also found that this altered ATXN1gene sequence encodes a bulky, improperly folded protein that is toxic to brain cells. These studies are relevant to multiple neurodegenerative diseases, including Alzheimer’s disease, which also involves misfolded proteins and neurotoxicity.


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