Zoghbi receives seven-year Javits award to advance ataxia research

August 4, 2015

8515Drzoghbi175Dr. Huda Zoghbi, a Howard Hughes Medical Institute investigator and the director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s, has been awarded a Javits Neuroscience Investigator Award from the National Institute of Neurological Disorders and Stroke for her “distinguished record of substantial contributions in the field of neurological science.”

Zoghbi received this award for her groundbreaking research on spinocerebellar ataxia, a neurodegenerative disorder that affects gait, speech and other activities controlled by voluntary muscles as a result of a CAG repeat in Ataxin-1 protein. Zoghbi identified the gene responsible for this disorder almost 20 years ago. Spinocerebellar ataxia continues to be a primary focus of her research program at the NRI.

This seven-year research grant will allow Zoghbi’s team to further explore the molecular mechanisms underlying spinocerebellar ataxia-1 by which the mutant protein Ataxin-1 cannot be folded properly in the cell, interfering with action of neurons. The protein contains many repeats of the CAG or glutamine amino acid, making it unwieldy for activity in the cell.

Zoghbi’s research project aims to lower the level of toxic protein in the cell, screen human cells in culture and the fruit fly for additional drug targets that can help lower the levels of the protein, and explore modifications and interactions of the Ataxin-1 protein to understand features that would be relevant outside the cerebellum of the brain.

The Javits Neuroscience Investigator Award is named in honor of the late Senator Jacob Javits of New York, a strong advocate for neurological research who died of amyotrophic lateral sclerosis.