Dr. Bradley L. Schlaggar, MD, PhD, President and CEO
Kennedy Krieger Institute has long been a leader in understanding and treating complex neurodevelopmental and genetic conditions, serving children and families affected by disorders that most clinical specialists may encounter only once, if ever, in their careers.
With a strong team of clinician-scientists, advanced diagnostic tools, and a dedication to translational research, Kennedy Krieger investigates the mysteries of rare diseases, uncovering the underlying biology that influences these conditions paving the way for more accurate diagnoses, earlier treatments, and innovative therapies. Through collaborative research and compassionate, specialized care, the Institute continues to bring hope to families navigating some of the world’s most challenging medical journeys. There are over 10,000 rare diseases; about half have neurological features, most have pediatric onset, less than five percent have a specific treatment, and about 200 new rare diseases are identified annually. The majority of rare diseases, approximately 80 percent, have a genetic basis.
While each individual rare disease is indeed rare — in the U.S. we define a rare disease as affecting fewer than 200,000 people—having any rare disease is, paradoxically, common. In fact, roughly one in 10 people lives with some form of a rare disorder.
More than 30 million people in the U.S., including an estimated 15 million children, have a rare disease. That number translates to millions of families navigating conditions that are frequently misunderstood, difficult to diagnose, and lacking in treatment options. Many individuals and families face their medical uncertainties in isolation, without the answers they deserve. It doesn't have to be that way.
Kennedy Krieger’s Rare Disease Program is one of the most comprehensive in the nation. Clinicians and researchers at Kennedy Krieger have experience treating more than 450 different rare genetic conditions, including leukodystrophies, mitochondrial disorders, Angelman syndrome, Krabbe disease, Duchenne muscular dystrophy, rare epilepsies, and many others.
Kennedy Krieger, in partnership with Johns Hopkins Medicine, is designated as a National Organization for Rare Disorders (NORD) Rare Disease Center of Excellence, a recognition reserved for institutions that demonstrate outstanding capabilities in diagnosing and caring for people with rare diseases.
The Institute was also recognized as a Center of Excellence for its clinical care, support, and research of Batten disease, a family of diseases caused by genetic mutations that interfere with the cell’s ability to break down waste. Kennedy Krieger is one of five centers in the United States to receive this honor from the Batten Disease Support, Research, & Advocacy Foundation (BDSRA). (Kennedy Krieger is a designated Center of Excellence or certified for the treatment of several rare diseases; learn more here.)
When you look at rare diseases collectively, themes begin to emerge; there are barriers to diagnosis and specialized care, and limited research funding because each condition affects a small number of people. These collective challenges are why Kennedy Krieger’s interdisciplinary approach is so powerful.
Teams of neurologists, geneticists, psychologists, rehabilitation specialists, genetic counselors, and researchers work side‑by‑side. This model means families don’t have to navigate a fragmented system; they can find clinical care, testing, research opportunities, and family support in one place. With more than 55 specialized outpatient clinics and several inpatient programs dedicated to complex conditions, Kennedy Krieger offers precisely the kind of coordinated care families facing rare diseases need.
“The secret sauce of Kennedy Krieger is that, unlike programs tucked inside massive hospitals, we are an institute built entirely around our mission,” says Dr. Eric Mallack, Director of Clinical Research, Moser Center for Leukodystrophies at Kennedy Krieger. “Instead of one or two investigators borrowing time and piecing together support, each of our centers has dedicated nurses, staff, coordinators, and leadership whose sole focus is disorders like these.”
This work becomes even more meaningful each year during Rare Disease Awareness Month, observed globally every February. The month-long campaign ends with Rare Disease Day, held annually on February 29—or February 28 in non‑leap years—to represent the “rareness” of these conditions. Throughout February, organizations worldwide raise awareness about the experiences of individuals with rare diseases, highlight gaps in diagnosis and treatment, and promote scientific advancements.
For Kennedy Krieger, the month is a valuable opportunity to share patient stories, showcase progress in clinical research, and strengthen partnerships that drive breakthroughs.
