Huda Zoghbi, MD, a Howard Hughes Medical Institute investigator and professor of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine, presented a lecture about her research on Rett syndrome, as the first recipient of the Mechthild Esser Nemmers Prize in Medical Science at Northwestern University, on September 20.
Throughout the day, Zoghbi toured labs and met with faculty and graduate students at the medical campus.
“Dr. Zoghbi and her collaborators have unraveled the genetic underpinnings of a number of devastating neurological disorders,” said Rex Chisholm, PhD, vice dean of Scientific Affairs and Graduate Education. “These discoveries have provided new ways of thinking about common neurological diseases including autism, intellectual disability and Parkinson’s disease, and the hope is that this will lead to better treatments.”
The prize is awarded to a physician-scientist whose body of research exhibits outstanding achievement in their discipline as demonstrated by works of lasting significance.
Daniel I. Linzer, PhD, provost of Northwestern University, welcomed faculty, students and staff to the Mechthild Esser Nemmers Prize in Medical Science Lecture and gave a brief history of the four Nemmers Prizes.
“These prizes have become some of the most eminent prizes in their disciplines,” Linzer said.
Zoghbi led the audience through her journey as a clinician observing patients with symptoms of Rett syndrome to her laboratory discoveries and the hopes she has in the future to develop therapeutics. Her lab identified a gene called MECP2 responsible for Rett syndrome, a developmental and neurological disorder that leads to severe motor and cognitive functions.
Through experiments using mouse models, manipulating the levels of expression of the gene and observing its effects on inhibitory and excitatory neurons, Zoghbi has been able to provide new insights on a large class of neuropsychiatric disorders.
“This is really helping us understand some of the more common psychiatric disorders,” she said. “Nobody would have thought that Rett would be one of the most common genetically defined causes of syndromic autism.”
Zoghbi said future directions toward translation include looking for drugable targets and small molecules for normalizing MecP2 protein levels.
Eric G. Neilson, MD, vice president for Medical Affairs and Lewis Landsberg Dean, presented Zoghbi with a medallion, concluding the day’s activities.