Dr. Isabelle Rapin: A Living Legend

Ask Dr. Isabelle Rapin, professor emerita in the Saul R. Korey Department of Neurology and of pediatrics, which of her accomplishments means the most to her and she will mention her work with basic scientists to seek greater clues to the underpinnings of the neurologic disorders she has diagnosed and studied in patients for more than 50 years. She also may mention her clinical work with those patients and their families, treating them, learning from them and offering guidance on managing issues that often span a patient's lifetime. But at the pinnacle, she will tell you, the achievement of which she is most proud, is her teaching.

Isabelle Rapin, M.D.A member of the Einstein faculty since 1958, Dr. Rapin – who retired during 2012 at the age of 84, but still comes into her office – has been a respected and admired mentor to countless colleagues, residents and students at the College of Medicine and beyond. As a leader in the field of child neurology, she is credited with a number of discoveries in the field of neurogenetic disorders in childhood, including shaping our understanding of autism - a disorder whose complexity is described as a spectrum of related disorders. In addition to her renown as a "mother of autism," she has been called "a luminary in her field" and "always the guiding light."

"Isabelle is responsible for carrying over Saul R. Korey's  unique model for neurology that we have at Einstein, which, operationally, doesn't exist elsewhere," said Dr. Mark Mehler, who has known Dr. Rapin since his days as an Einstein student and is now professor and chair of neurology, as well as the Alpern Family Foundation Chair in Cerebral Palsy Research and director of Einstein's Institute for Brain Disorders and Neural Regeneration. "She's been a seminal influence in characterizing neurologic disorders as ‘lifespan disorders,' which start at conception, extend throughout adult life and need to be addressed throughout a patient's life. She is a star clinician and teacher whose scholarly mentorship extended beyond students, postdoctoral fellows and faculty to include caregivers, families and the general public."

Honoring a Legacy

In recognition of her distinctive authority, on December 6, 2012, Einstein launched an annual conference in Dr. Rapin's honor, focused on communication disorders. The conference's inaugural session detailed recent advances in research of Williams Syndrome, a rare genetic disorder that results in developmental problems that can include delayed but remarkably fluent speech in the face of other cognitive deficits. Each year's conference will bring together scientists and clinicians at Einstein, to both raise their awareness of various communication disorders and to encourage collaboration toward identifying possible causes and treatments.

"Isabelle was doing translational research 50 years ago, before anyone had coined a term for it or knew what it meant," noted Dr. Mehler. "Influenced by Saul Korey, Dom Purpura and Bob Katzman, she taught all of us who followed the importance of bringing science into our understanding and treatment of disorders. She is the world's expert in the field of pediatric communication disorders, and during her career she defined as well as refined our understanding of an entire field."

Dr. Rapin receiving her Honorary Alumna award at commencement, in 2000, from Dr. Dominick P. PurpuraThe conference is just one of a multitude of honors bestowed upon Dr. Rapin throughout her career. Among others, she has received the American Academy of Neurology's President's Award, a prestigious award given annually to a leader in the field of neurology, and been given Honorary Alumna status at the College of Medicine, which also hosted an international symposium on autism in her honor in 2006.

A Lifelong Love of Learning

A founding member of both the Child Neurology Society and the International Child Neurology Association, Dr. Rapin's many accomplishments in the scientific realm are a reflection of her lifelong passion for science. As a child growing up in Switzerland, she became fascinated by science and determined she would one day become a doctor. Her unique determination and ability to fully immerse herself in her field were clear by age 10, when she understood active versus passive immunization.

The nervous system fascinated her above all at the University of Lausanne Medical School, but it was rotation in a Paris hospital that introduced the perspective of child neurology, prompting her to come to the United States to fulfill this dream. She was lucky to be accepted as an intern in pediatrics at Bellevue Hospital, in New York City, followed by a neurology residency and year of fellowship at the Neurological Institute at Columbia-Presbyterian Hospital.

It was during her residency that Dr. Rapin first met her eventual Einstein colleague, Dr. Dominick P. Purpura, distinguished professor emeritus of the Dominick P. Purpura Department of Neuroscience and former Einstein dean. As Dr. Purpura recalled, "We were each busily reading charts in a room at the Neurological Institute when we struck up a conversation. That led to a fast friendship through which we could bounce ideas off one another and discuss our patients."

It was clear to Dr. Purpura from their first encounter that Dr. Rapin stood out. "I always felt that Isabelle knew so much more than the average resident, and I considered myself to be an average resident!" he said. "Even as a resident, she was already displaying strong leadership qualities."

Harnessing Curiosity

Following her residency, Dr. Rapin was hired by Dr. Korey (Einstein's founding chair of neurology) for a faculty position at the nascent College of Medicine. Her interest in clinical research, begun during her residency, continued at Einstein. "I've always had a strong drive to recognize when patients can provide important clues to biology," she said. "When you find something in a patient that science helps to understand, it's dramatic and exhilarating. And Saul Korey created an environment where this was not only tolerated, but expected and supported."

In 1959, she obtained her first National Institutes of Health grant, spurring a long and prolific research career that has produced more than 250 papers, books and book chapters on topics that range from lysosomal diseases to hearing loss and language disorders.

"Isabelle's research contributions have changed our understanding of many different fields within neurology," said Dr. Solomon Moshé, director of clinical neurophysiology and of the division of pediatric neurology in Einstein's neurology department, as well as professor of neurology and of neuroscience. "And, she has conducted pioneering work in metabolic diseases of the brain."

A Prolific Teacher

Dr. Rapin's influence is also evidenced by her academic contributions at Einstein. She founded and initially led the Child Neurology Service and Fellowship Training Program, through which she has trained generations of successful adult and child neurologists. (This includes her own daughter, Dr. Anne Louise Oaklander, who earned an M.D.-Ph.D. degree at Einstein and is a leading pain neurologist at Massachusetts General Hospital.)

"I discovered as a teen that I loved teaching," recalled Dr. Rapin. "When I learn something new that excites me, I want to share it with others and get them excited, too."

"The program that Isabelle created was one of the first in the country, and has an international reputation for excellence," noted its current director, Dr. Moshé, who also holds the Charles Frost Chair in Neurosurgery and Neurology. "Many of our graduates originally trained at Einstein because of Isabelle, and have gone on to create their own successful programs. Almost everything happening in this field, worldwide, can be linked back to her in some way."

Remaining an Invaluable Resource

Consistently admired for her clinical and scientific accomplishments throughout her illustrious career, Dr. Rapin continues to impress her colleagues and friends with her enthusiasm for learning and her eagerness to share knowledge.

"I always go to Isabelle with any clinical questions, any questions about mechanisms of causation, and about the latest theories," said Dr. Purpura. "She is a tremendous source of good information and understanding. With her perseverance and synthetic mind, which is able to put her knowledge of clinical, behavioral and scientific research together, she can take in the little leaves, the trees and the forest. It's an unusual and powerful combination of skills."

Dr. Moshé, who considers Dr. Rapin to be one of his mentors, agreed. "Isabelle is a true mentor, who teaches you and then encourages you to develop your own perspectives while remaining available to help. She is always the one we go to with a difficult case, and somehow is always correct with the diagnosis."

Although she retired during 2012, Dr. Rapin continues to keep current with the research and clinical advances in her field. Ever the mentor, still available to colleagues and patients alike, she concluded, "Every patient can teach us something we don't know. Patients are our teachers."