Johns Hopkins Medicine Receives New Distinction of Excellence for Treatment of Rare Diseases

Johns Hopkins Medicine (JHM) has been designated a National Organization for Rare Disorders (NORD) Rare Disease Center of Excellence. The newly established designation recognizes centers who are leaders in the diagnosis and care of people with rare diseases. JHM shares the recognition with the Kennedy Krieger Institute.

Each year, clinicians at JHM care for thousands of patients with rare diseases, many of which have a strong genetic component. The McKusick-Nathans Institute of Genetic Medicine | Department of Genetic Medicine houses several clinics and research centers dedicated to the diagnosis and treatment of rare diseases as well as research programs aimed at improving outcomes for patients with these disorders.

The specialty clinics within the Department of Genetic Medicine include heritable vascular connective tissue disorders, skeletal dysplasias, epigenetics and disorders of chromosome stability, inborn errors of metabolism, lysosomal storage disorders and mitochondrial medicine. Beyond the genetic medicine department, clinics dedicated to patients with rare diseases can be found in nearly every department at Johns Hopkins, enabling strong multidisciplinary collaborations to optimize patient care. 

The Department of Genetic Medicine is home to the Baylor-Hopkins Center for Mendelian Genomics, a research initiative funded by the National Human Genome Research Institute. The center is sequencing the genomes of people with rare diseases and their families to identify novel disease genes and variants. Recently, Johns Hopkins geneticists created GeneMatcher, an online database that connects families and health care providers around the world to share information about candidate genes that may cause rare conditions. To date, the resource has led to more than 380 publications reporting rare disease gene discoveries, propelling education and treatment options for affected families.

“Centers and clinics like these enhance our ability to support the rare disease community,” says Ada Hamosh, M.D., M.P.H., clinical director of the genetic medicine department at the Johns Hopkins University School of Medicine and scientific director of OMIM, Online Mendelian Inheritance in Man, the comprehensive database of human genes and genetic disorders.

“This new distinction underscores the Johns Hopkins Medicine legacy of pioneering the world’s understanding of rare diseases,” adds Hamosh.

Kennedy Krieger treats more than 50 rare diseases in pediatric patients, including leukodystrophy, muscular dystrophy, Kabuki syndrome and Rett syndrome, as well as other disorders that impact the nervous system. The institute is home to several rare disease programs that have been designated as centers of excellence by various organizations, such as the Center for Genetic Muscle Disorders, the Moser Center for Leukodystrophies, the Rett Syndrome and Related Disorders Clinic and the SYNGAP1 clinic.

“Our clinicians at Kennedy Krieger look forward to this collaboration with Johns Hopkins genetic medicine to further our efforts to care for patients with rare diseases,” said S. Ali Fatemi, M.D., chief medical officer at Kennedy Krieger Institute and director of the Division of Neurogenetics and the Moser Center for Leukodystrophies. “Some of our patients have diseases that affect only 100 people in the world, so these relationships are instrumental to make progress toward determining effective treatments and improving children’s lives.”

In the program’s inaugural year, thirty-one medical centers nationwide have been selected by NORD, and will serve as a network to expand access to care and research for patients with rare diseases. More than 90% of rare diseases lack an FDA-approved treatment. This new collaboration, say the researchers, aims to create better outcomes for the estimated 25 million to 30 million Americans living with rare diseases.