Uterine fibroids and deafness may seem like disparate diseases. But medical geneticists like Cynthia Morton, PhD, director of Cytogenetics at BWH, tackle these disorders with very similar tools. That’s because the genetic alterations that can influence all aspects of human health and disease are written in a common code.
“The genetic code is the instruction manual for all life on this planet,” said Morton. “Once geneticists understand the code, we can take our toolbox to any disease that interests us.”
In her lab, Morton uses the latest sequencing technology to uncover abnormalities in chromosomes, the spindle-like structures in which genetic information is tightly bound and are the focus of cytogenetics. Morton is specifically interested in pursuing abnormalities that underlie deafness. She’s also discovering the genetic differences that distinguish the many women who develop uterine fibroids, or tumors in the muscle of the uterus, from those who do not.
‘I’ve Always Loved Genetics’
Morton’s gravitation toward genetics started in middle school when she wrote a paper about twins. She was struck by the hidden presence of the genetic code, elegantly unifying all forms of life. That appreciation later helped her through her grief over a death in the family.
“I’ve always loved genetics. I can’t imagine a more interesting topic,” said Morton. “It’s amazing that each one of us is a patchwork of genetic material of all the people from whom we are descended. When my grandmother passed away, I took comfort in knowing that she lives on through me.”
Morton earned her PhD in human genetics at the Medical College of Virginia in Richmond. She had just completed her postdoc at Harvard when the chief of Pathology at the time, Ramzi Cotran, MD, offered her a position as director of Cytogenetics. She’s held that position ever since.
Finding a Common Language
Morton first learned about the genetics of deafness in graduate school. Her interest was sparked in part by the concept of linguistic homogamy – the tendency to marry those who speak the same language.
“There’s an altered mating structure in deaf communities,” she explained. “A deaf person is more likely to have a partner who is another deaf person, as they may share a common language – American Sign Language. But most of these couples end up having hearing children. That’s because there are so many causes for deafness, both hereditary and environmental.”
Although her curiosity began with deafness, Morton soon stumbled upon another fascinating area of biology early in her Brigham career. She began studying uterine fibroids while developing a clinical service in solid tumor cytogenetics. To pilot the service, she and her colleagues needed to obtain a large number of tumors.
“We were given uterine fibroids, which are so abundant that there can be dozens of tumors in one woman,” said Morton. “I had never even heard of uterine fibroids before my colleague in Obstetrics and Gynecology asked me if I knew about the cytogenetics of fibroids.”
Uterine fibroids are benign and mostly asymptomatic, but amazingly common, occurring in about 70 percent of women. That figure increases to around 80 percent in African-American women.
“Many women, especially those who aren’t of African-American descent, don’t know what uterine fibroids are,” said Morton. “I was just following the science, but as a woman, I was glad to have a project in women’s health, where improvements are surely needed.”
Morton’s lab conducts ongoing studies on the genetic causes of uterine fibroids. Other current projects include the Developmental Genome Anatomy Project (DGAP), which seeks to identify genes disrupted or dysregulated during human development, and SEQencing a Baby for an Optimal Outcome (SEQaBOO), which studies the genomes of babies who fail hearing screens and could benefit from early interventions, such as hearing aids, cochlear implants or sign language instruction.
Work and Life, Entwined
Morton’s passion for genetics touches every aspect of her life; she often mixes work with her social and leisure activities. For example, following a yearly genetics program at Harvard, she hosts a dinner gathering of geneticists in various career stages, along with two guests of honor: clinical geneticists who are also spouses or partners in their non-work lives. The couple offers a unique perspective on work-life balance, and trainees can seek advice and network with experts in the field.
“Every spring, we would invite a highly regarded clinical geneticist to give a seminar. One year, we decided to invite someone whose partner is also a geneticist and thought, why not invite both? They became our first visiting clinical geneticist couple,” said Morton. “I really enjoy the experience. I get to meet people I might not otherwise have had a chance to know.”
Besides colleagues and friends, Morton loves to spend time with her husband, a retired businessman, and her daughter and son, who are both completing PhD programs. She also loves international travel and is even on the faculty at the University of Manchester. As a self-professed Anglophile, her favorite place to visit is England, but she is happy when work and leisure bring her anywhere in the world. Recently, she’s visited India to teach a personalized medicine workshop and Austria to advise a rare disease institute.
“I love my work,” said Morton. “Working at the Brigham has been an amazing experience. I’m always in awe of the colleagues I have here and of the dedication that our medical professionals and basic scientists have toward advancing human health. There’s just no comparison to the wonderful Brigham family.”