Dr. Hope Northrup, professor and director of the division of medical genetics in the Department of Pediatrics at McGovern Medical School, said presenting the Samuel Pruzansky Memorial Lecture at the 49th Annual March of Dimes Clinical Genetics Conference was something she “couldn’t have imagined in her wildest dreams.”
Northrup presented the lecture, titled “Spina Bifida: New insights into a common congenital malformation from exomes,” in front of thousands of geneticists, genetic counselors, and other medical professionals in attendance April 12 at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Charlotte. Dr. Fuki Hisama, clinical geneticist and medical director of the Genetic Medicine Clinic at the University of Washington, Seattle, introduced Northrup before she took the stage and presented her with a plaque commemorating the 2018 Pruzansky Lectureship Award in Genetics.
“It was quite an honor to be chosen to give this lecture,” Northrup said. “It was an amazing career highlight that I thought I would never receive.”
Northrup has spent years researching tuberous sclerosis complex and myelomeningocele at her lab at McGovern Medical School along with Dr. Kit Sing “Paul” Au. For the lecture, Northrup focused on examining data generated from whole exome sequencing, which allows researchers to sequence all 22,000 genes in a person at one time in a cost-effective manner. Her lab worked closely with the School of Public Health’s Human Genetics Center and its director Dr. Alanna Morrison. The March of Dimes Symposium included four lectures with the other three speakers: Dr. Helga Toriello, professor at Michigan State University; Dr. Nicholas Greene, professor at University College London Institute of Child Health; and Dr. Ramesha Papanna, assistant professor at McGovern in the Department of Obstetrics, Gynecology and Reproductive Sciences.
For the past four years, Northrup’s lab examined genes and categories of genes in affected patients. The data presented at the meeting is part of a “first-pass” of results focused on the 400 previously identified candidate genes with further analysis to follow.
“Our endgame in learning about the genetic underpinnings is to try to develop more strategies to prevent this birth defect from happening,” Northrup said. “If we can find another intervention similar to folate fortification to decrease the number of births with neural tube defects, that would be incredible.”
Hisama praised Northrup for her “incredible service” in the field of genetics and said she brought “hope with a lowercase ‘h’” to all of her patients.
The Samuel Pruzansky Memorial Lecture was established in 1986 in memory of Dr. Samuel Pruzansky, founder and director of the world’s first center for craniofacial anomalies, established at the University of Illinois College of Medicine. Pruzansky was an internationally renowned research scholar, clinician, and teacher. The March of Dimes has helped sponsor the Samuel Pruzansky Memorial Lectureship since its beginnings. Pruzansky was also acting chief of the Clinical Investigations Branch of the National Institute of Dental Research from 1953-55.
Northrup was the 2003 winner of the Manuel R. Gomez Professional Recognition Award from the Tuberous Sclerosis Alliance and previously received the Regents Outstanding Teaching Award for The University of Texas System in 2016. She has been highlighted for her excellence in various publications including Best Doctors in America, America’s Top Doctors, and Texas Super Doctors.