Zoghbi receives seven-year Javits award to advance ataxia research

HOUSTON - July 29, 2015 - Dr. Huda Y. Zoghbi, investigator, Howard Hughes Medical Institute; professor of molecular and human genetics, neurology, neuroscience, and pediatrics at Baylor College of Medicine; and director of the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, 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 itself 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 that Zoghbi received 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.

The award is a conditional, seven-year 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 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.

About Texas Children’s Hospital

Texas Children’s Hospital, a not-for-profit health care organization, is committed to creating a healthier future for children and women throughout the global community by leading in patient care, education and research. Consistently ranked as the best children’s hospital in Texas, and among the top in the nation, Texas Children’s has garnered widespread recognition for its expertise and breakthroughs in pediatric and women’s health. The hospital includes the Jan and Dan Duncan Neurological Research Institute; the Feigin Center for pediatric research; Texas Children’s Pavilion for Women, a comprehensive obstetrics/gynecology facility focusing on high-risk births; Texas Children’s Hospital West Campus, a community hospital in suburban West Houston; and Texas Children’s Hospital The Woodlands, a second community hospital planned to open in 2017. The organization also created the nation’s first HMO for children, has the largest pediatric primary care network in the country and a global health program that’s channeling care to children and women all over the world. Texas Children’s Hospital is affiliated with Baylor College of Medicine. For more information, go to www.texaschildrens.org. Get the latest news by visiting the online newsroom and Twitter at twitter.com/texaschildrens.