Dr. Huda Zoghbi wins Breakthrough Prize

January 30, 2017
Renowned neurologist retires from JCC Board of Scientific Advisors

In December 2016, HHMI Investigator Dr. Huda Zoghbi received the Breakthrough Prize in Life Sciences “for discoveries of the genetic causes and biochemical mechanisms of spinocerebellar ataxia and Rett syndrome, findings that have provided insight into the pathogenesis of neurodegenerative and neurological diseases.”

Born and raised in Lebanon, Zoghbi began medical school in 1975 at the American Medical School of Beirut. But civil war disrupted life as she knew it during that first year. Students and professors at the University forged ahead despite bombings, sleeping in the basement and holding classes upstairs. By summertime, she moved to the US for safety, and eventually finished her studies in Nashville before becoming a pediatric neurology resident at Baylor.

Early in her career, Zoghbi read an account of a rare neurological disorder known as Rett Syndrome. Within days, she encountered her first patient with the condition’s characteristic hand-wringing trait. And after asking staff to comb through medical records, she discovered five more possible cases of the disorder buried in the patient charts at her workplace.

Zoghbi’s desire to help these and other patients drew her to the lab bench, and she began formal training in molecular genetics soon after her own daughter was born in the mid-1980s. Since then, she discovered the genes responsible for Rett Syndrome and spinocerebellar ataxia, and further elucidated the mechanisms of these conditions using animal models. In research recently published in Neuron, Zoghbi’s research group prevented the accumulation of the harmful tau protein that precedes full blown Alzheimer’s disease by inhibiting the Nuak1 enzyme in three experimental models: human cells, the fruit fly and the mouse.

This year, Dr. Huda Zoghbi retires from the JCC Board of Scientific Advisors. “Serving on the Board of scientific Advisors to the Jane Coffin Childs Fund was a delightful experience because of the joy reviewing applications from bright young scientists,” she says. “I only wished the fund had twice as much money as there are always more deserving scientists than there are funds.”