Judith Hall, MD, is an esteemed clinical geneticist and professor emerita of pediatrics and medical genetics at the University of British Columbia. With more than 50 years in the medical field, she is celebrated as an expert in rare genetic diseases, a trailblazer for women in science, and a leader in her field.
One of her earliest inspirations was her mother, who completed college and graduate school in an era when it was virtually unheard of for a woman to do so. She maintained her passion for academia even after marrying and raising children, and a young Dr. Hall and her three siblings grew up in an environment full of opportunities to explore and experiment, and strong encouragement to do well in school and investigate the world around them. Dr. Hall remembers family hikes and summers spent outside, fostering a love of nature that developed into a passion for biology and life sciences as she grew older.
After completing a bachelor’s degree at Wellesley College, Dr. Hall continued her education at the University of Washington Medical School in Seattle. As one of only six women in her medical school class, she initially faced obstacles being taken seriously in such a male-dominated environment, and would joke that she felt fortunate to have grown up with brothers, giving her prior experience with such challenges. She credits her decision to specialize in genetics to the support of one of her professors, Dr. Arno Motulsky, an early leader in the field. She recalls being asked how many chromosomes were in human DNA as a part of her medical school interview and answering correctly, impressing the professor and flagging her as a devotee of the emerging specialty. At the time Dr. Hall attended medical school, genetics was a new and evolving field that immediately piqued her interest and inspired her curiosity in its potential to help treat and understand a broad range of conditions that had historically been considered untreatable.
In 1966, Dr. Hall simultaneously completed a Master of Science in genetics and was awarded her Doctor of Medicine by the University of Washington Medical School. She completed her medical residency in Seattle before accepting an internship in pediatric medicine at Johns Hopkins University in Baltimore. Dr. Hall pursued additional fellowships in medical genetics and pediatric endocrinology, making her an authority in the diagnosis and study of specific birth defects. She became a professor at the University of Washington in 1972, where she would remain for the next nine years, teaching and helping to establish the first medical genetics clinics across Washington, Alaska, Montana and Idaho. Her work provided access to treatment for children with a variety of rare genetic disorders while broadening the body of knowledge available on the diseases and allowing deeper study.
Dr. Hall was recruited by the University of British Columbia in 1981 to become a professor of medical genetics and director of genetics services for British Columbia. She was named head of the department of pediatrics at the University of British Columbia from 1990 until 2000, and is a co-founder of the British Columbia Pediatrics Association. Known for her work in creating standards for clinical genetic services and increasing awareness of genetic disease screening and treatment with pediatricians and children’s advocacy organizations, Dr. Hall served as president of the Western Pediatric Research Society, the American Pediatrics Society, the North Pacific Pediatrics Society, and others, and has been presented with numerous awards and honorary degrees. Dr. Hall was granted professor emerita status by the University of British Columbia in 2005.
Dr. Hall’s research interests focused on congenital anomalies, primarily arthrogryposis, a birth defect resulting in muscle weakness and extremely limited range of motion in some or all joints. Through research and work with families, she has been able to identify the genes responsible for certain types of embryonic motion and suggest causes for the disorder. Other areas of interest have included the genetics of similar connective tissue disorders, dwarfism and short stature, and monozygotic twins, and Dr. Hall’s research is credited with describing a number of previously unidentified conditions. Extensively published, she is the author of more than 325 peer-reviewed articles, 100 book chapters, and 10 books, and has contributed to dozens of academic conferences and symposia.
While renowned for her research, Dr. Hall has always considered clinical work to be her favorite part of her position, emphasizing that she has often learned the most from listening to patients and their families and piecing together details from clinical records. She considers herself privileged to have watched the fields of genetics and epigenetics evolve during her career and to have contributed to their growth, and looks forward to supporting the next generation of clinicians and researchers as they continue to make strides. Dr. Hall credits her success to a well-rounded approach to academia and a drive to help others that remained central to her philosophy of practice throughout her career. In her retirement, Dr. Hall continues to enjoy the outdoors and places an emphasis on time spent with her three children and three grandchildren.