Elise (Elli) Brimble, MS, is a Certified Genetic Counselor at Stanford Children’s Hospital and a graduate from Boston University. She has spent the past three years working as a Neurogenetic Counselor at Stanford Children’s Health, where she sees children with rare disorders that affect the brain.
Elli’s interest in genetic counseling began when she pursued a graduate degree in molecular genetics studying neuronal models of Williams syndrome. Elli decided to pursue a second graduate degree in genetic counseling at Boston University. Upon graduation, she pursued a role at Stanford Children’s Hospital that allowed her to further develop her training and expertise in the field of rare neurological disorders.
A major factor in her decision to pursue a Master of Science in Genetic Counseling from Boston University was the incredibly diverse training available in the area. She also had the opportunity to learn from leading names in the field of clinical genomics. Her mentor, MaryAnn Campion, had an impact on her as Campion encouraged all her students to set goals that pushed them outside of their comfort zone. Brimble then decided to specialize in epilepsy and neurodevelopmental genetics when reflecting on her past work with Williams syndrome. “I love that we are continually challenged to rethink traditional approaches,” she says. “A lot of my time goes into thinking about candidate disease genes and novel variants, which feels like detective work!”
Elli’s love for Stanford’s Children’s Hospital is inspired by the resilience of the families that she has had the pleasure of working with. A special moment in her career was working with a family through a patient advocacy organization. Following the diagnosis of a child, a family was forced to relocate across the country. Due to the child’s poor health, the patient was admitted to the hospital immediately after arriving in California. Brimble was able to help lay some of the groundwork required to facilitate their transition to California. “I got to act as an anchor during a difficult hospital admission. I'm really fortunate to have a strong network of clinicians at Stanford Children’s Health to help families during the most difficult moments,” says Elli.
Elli shares she is guaranteed ongoing learning and professional development through the accrual of CEUs as a Diplomate of the American Board of Genetic Counseling. She also says that her status as a Diplomate has allowed for licensure in her home state of California. Recently, she has also been provided the opportunity to create a natural history study for NGLY1 deficiency which she says has been a “steep but enjoyable learning curve.”
Elli is hopeful that, as the understanding of the pathophysiology of genetic epilepsies continues to improve, genetic diagnosis will lead to new ways to effectively treat individuals. Elli is excited by the possibilities that her career in genetic counseling have provided and will continue to provide. She continues to assist families find genetic diagnoses, develop and implement research programs as well as advocate for patients.