State Health Department To Host A Forum on Monday, Feb. 7 To Promote Awareness of Rare Diseases

Speakers include Rick Guidotti, Founder of Positive Exposure, an organization that works with individuals living with a genetic difference

ALBANY, N.Y (Friday, Feb. 4, 2011) – The New York State Department of Health (DOH) will join with the rare disease patient advocacy community, researchers, health care providers, and people living with rare diseases and their families to recognize Rare Disease Awareness Day on Feb. 7, 2011.

A free public forum will be held at 2:30 p.m. Monday at the New York State Museum Huxley Theater in Albany to raise awareness about the challenges facing individuals living with rare genetic disorders, especially children. Speakers will include State Health Commissioner Nirav R. Shah, M.D., M.P.H.; David J. Eckstein, Ph.D., Senior Health Scientist Administrator of the National Institutes of Health's Office of Rare Disease Research; Sharon F. Terry, M.A., President and CEO, Genetic Alliance; and Lawrence S. Sturman, M.D., Ph.D., Director of the New York State Wadsworth Center for Laboratories and Research.

In addition, Rick Guidotti, Founder and Director of the advocacy group Positive Exposure, will present a lecture, "The Spirit of Difference," that focuses on ensuring that all individuals with genetic orders receive the support they need and are treated with dignity.

Monday, Feb. 7, 2011
2:30 p.m. - 4:30 p.m.
Huxley Theater
New York State Museum
Empire State Plaza, Madison Avenue

There are nearly 7,000 rare diseases and health disorders affecting approximately 30 million Americans. Most rare diseases are genetic and are present throughout a person's life. Approximately 30 percent of children with rare diseases will die before their fifth birthday.

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 250,000 infants for more than 40 congenital diseases annually.

Rare Disease Awareness Day is an international advocacy day established to bring widespread recognition of rare diseases as a global health challenge. Patients and 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.

On March 8-9, 2011, DOH, in conjunction with the National Institutes of Health, will sponsor a two-day conference in New York City on the genetic diseases of children. The conference is expected to draw more than 800 patient advocates, community representatives, health care providers, scientific researchers, and government and industry leaders. The event will bring attention to the unique health care challenges faced by children living with a genetic disease, and provide an exceptional opportunity for in-depth discussion and debate of key issues. For more information about both events, including how to register to attend, visit