New York State Department of Health Recognizes Rare Disease Day

Read the Recently Released Rare Disease Workgroup Report

ALBANY, N.Y. (February 28, 2025) – The New York State Department of Health recognizes Rare Disease Day, February 28, 2025.

Rare Disease Day is an international advocacy day established to bring widespread recognition of rare diseases as a global health challenge. Patients, their families, patient advocates, health care professionals, scientific investigators, policy makers and elected officials are asked to work together to focus attention on rare diseases as a public health issue.

In the United States, the National Institutes of Health (NIH) defines a rare disease as a condition that affects fewer than 200,000 people. Although individual diseases may be rare, it is estimated that there are more than 10,000 rare diseases that collectively affect about 1 in 10 people, or 1.8 million New Yorkers.

"Individuals and families affected by rare diseases often experience problems such as delays in getting a diagnosis, difficulty finding a medical expert, limited access to treatments, and unmet social and support needs," State Health Commissioner Dr. James McDonald said. "Rare Disease Day is the perfect time to identify and illuminate opportunities to support those affected as well as recognize individuals and organizations working to address rare diseases."

Screening and Detection

New York State's public health laboratory, the Wadsworth Center, screens every baby born in the State for certain rare genetic and metabolic diseases that may not otherwise be identified at birth. These disorders may cause serious and potentially life-threatening illnesses if not treated in the first weeks or months of life. New York's newborn screening program is one of the most comprehensive in the nation, screening approximately 207,000 infants for more than 50 congenital diseases annually.

New York State Rare Disease Workgroup Report

The New York State Rare Disease Workgroup was convened in response to legislation passed in New York State (Article 27-L of the Public Health Law). The purpose of the Workgroup was to identify best practices that could improve the awareness of rare diseases; improve referrals for people with potential rare diseases to specialists; and evaluate barriers to treatment – including financial barriers on access to care.

In her 2024 State of the State, Governor Kathy Hochul announced that the Department of Health would establish a permanent Rare Disease Advisory Council following the conclusion of the Workgroup to increase clinical and public awareness of Rare Diseases. The Department will be working with stakeholders in the coming months to develop this initiative.

For more information, resources and the State's Rare Disease Workgroup report, please visit the Department's Rare Diseases webpage.