Dr. Huda Y. Zoghbi, professor of molecular and human genetics, neurology, neuroscience, and pediatrics at Baylor College of Medicine; director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital; and a Howard Hughes Medical Institute investigator, has been awarded a Javits Neuroscience Investigator Award from the National Institute of Neurological Disorders and Stroke.
The seven-year grant will support research into spinocerebellar ataxia 1, the first gene she identified and a major focus of her laboratory for more than two decades. The award notes her “distinguished record of substantial contributions in the field of neurological science.”
The disorder affects gait, speech and other activities governed by voluntary muscles and eventually results in death.
The award is named in honor of the late Sen. Jacob Javits of New York, a strong advocate for neurological research who died of amyotrophic lateral sclerosis. It is a conditional research grant given to scientists by the National Advisory Neurological Disorders and Stroke Council. Its initial period is for four years with an additional project period added after administrative review.
The award (R37) will enable Zoghbi to extend her work into the mechanism by which the mutant protein ATAXIN-1 cannot be folded properly in the cell, interfering with the action of neurons. The protein contains many repeats of the CAG or glutamine amino acid, making it unwieldy for activity in the cell.
Her research project aims to (1) lower the level of toxic protein in the cell, (2) screen human cells in culture and the fruit fly for additional drug targets that can help lower the levels of the protein and (3) explore modifications and interactions of the Ataxin-1 protein to understand features that would be relevant outside the cerebellum of the brain.
Spinocerebellar ataxia 1 is inherited dominantly, which means that if a person inherits the mutated gene, he or she gets the disease. It is one of several diseases that occur because of CAG repeats, meaning that there is excess glutamine in the resulting protein, making it unwieldy and non-functional. As the reviewers noted, Zoghbi’s findings in this area have the potential for advancing the understanding of other neurological diseases with similar patterns, including Huntington’s, Parkinson’s and Alzheimer’s.