Dr. Huda Zoghbi to receive genetics leadership award at national meeting
The American Society of Human Genetics (ASHG) has honored Dr. Huda Zoghbi with the 2019 Victor A. McKusick Leadership Award. She is a professor of molecular and human genetics and Howard Hughes Medical Institute investigator at Baylor College of Medicine and director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital.
The award, named in honor of the late Victor A. McKusick, M.D., recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health. This is the third year in a row that a faculty member in Baylor’s Department of Molecular and Human Genetics has received the honor. ASHG will present the McKusick Award, which will include a plaque and $10,000 prize, to Zoghbi on Wednesday, Oct. 16, during the organization’s 69th Annual Meeting at the George R. Brown Convention Center in Houston.
“I am deeply honored and humbled to receive this award. Dr. McKusick’s encyclopedic knowledge, searching curiosity and personal warmth left a deep impression on me the few times we met,” said Zoghbi, the Ralph D. Feigen, M.D. Endowed Chair and a member of the Dan L Duncan Comprehensive Cancer Center at Baylor. “It is really an honor to get a prize bearing his name and to join the distinguished winners who preceded me.”
Zoghbi is also a professor of pediatrics, neurology and neuroscience at Baylor College of Medicine. Since 1988, Zoghbi’s lab at Baylor has studied rare disorders, motivated by the experience of patients. A 5-year-old with Rett syndrome, which affects patients’ ability to speak, walk, eat and breathe, inspired Zoghbi to look for its genetic underpinnings. There was no indication at the time that Rett syndrome had genetic connections, but she found that the MECP2 gene on the X chromosome was responsible for Rett syndrome. This discovery illuminated the cause of many of Rett’s symptoms and explained why females are more often affected.
“Dr. Zoghbi’s accomplishments range from discovering genes to identifying their mechanisms and studying potential therapies, demonstrating the value of genetics and genomics research across the spectrum. Her work and efforts embody the leadership and dedication we should all strive for,” said Dr. Les Biesecker, 2019 ASHG president.
Another of Zoghbi’s significant contributions to the field was co-discovering the gene for spinocerebellar ataxia type 1 (SCA1) with Harry Orr at the University of Minnesota. SCA1 causes progressive problems with movement, including affecting coordination and balance, as well as speech and swallowing difficulties. Zoghbi and collaborators additionally found the mechanism driving disease, and then began the hunt for therapies that could slow the progression of disease.
Zoghbi and her lab also identified the Math1 gene, which can affect the development of inner ear hair cells and of neurons in the cerebellum and brain stem that, in turn, can affect balance, awareness, movement and breathing. Math1 also was found to cause growth of granule cells, which leads to a common childhood brain tumor. When Math1 was silenced in mice, the tumor did not develop.
In addition to her many scientific discoveries, Zoghbi is a member of the National Academy of Medicine and the National Academy of Sciences and has received many awards in recognition of her contributions including an honorary Doctor of Science from Yale University and the 2009 International Rett Syndrome Foundation's Circle of Angels Research Award. Dr. Zoghbi also won the Gruber Neuroscience Prize in 2011 and the Breakthrough prize in 2017. A longtime member of ASHG, Zoghbi was on the ASHG Awards Committee in 2000.