Conference Set on Children's Genetic Diseases

ALBANY, N.Y. (Feb. 25, 2011) – Parents of and advocates for children with genetic diseases will meet with researchers, clinicians, and government and industry leaders at a first-of-its-kind national conference March 8 and 9 in Manhattan to advance research and care.

The New York State Department of Health (DOH) is the primary sponsor of the "Genetic Diseases of Children: Advancing Research and Care" conference, to be held at the Sheraton Towers New York, 811 7th Ave. The conference will focus on creating opportunities to advance research and improve the delivery of health care for children living with genetic disorders. DOH is working with the National Institutes of Health's Office of Rare Diseases Research and its Office of Dietary Supplements, the National Genetic Alliance, the National Center for Research Resources, the National Organization for Rare Disorders and the Jeffrey Modell Foundation.

State Health Commissioner Nirav R. Shah, M.D., M.P.H., said, "The goal of this conference is to develop recommendations for establishing a comprehensive, state-based model that will effectively facilitate early diagnosis through newborn screening, improve access and quality of care, optimize coordination of provider services, and foster high-impact clinical research to expedite improved medical treatments."

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 genetic diseases will die before their fifth birthday.

Children with genetic diseases have unique health care challenges, and the conference will provide an exceptional opportunity for in-depth discussion and debate of key issues. The keynote address on March 8 will be given by Hall of Fame Buffalo Bills quarterback Jim Kelly, who is also president and co-founder of Hunter's Hope Foundation. Hunter's Hope is dedicated to Jim and Jill Kelly's son, Hunter, who died from Krabbe Disease.

DOH 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. In 2010, 1 in 373 babies born in New York were confirmed with one of these conditions.

The conference will offer four plenary sessions and more than 35 panel discussions covering early diagnosis, family experiences, care and coordination of services, meeting the needs of children with a genetic disorder, and accelerating research.

Among the sessions are:

Diagnosis, Research and Care for Rare Diseases: A Conference Overview

  • Dr. Robert Desnick, M.D., Ph.D., Dean of Genetics and Genomics, Professor and Chairman, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY (
  • Maggie Hoffman, Co-founder and Director, Project DOCC (Delivery of Chronic Care), Great Neck, NY
  • Sharon Terry, M.A., President and CEO, Genetic Alliance, Washington, D.C. (genetic

Therapeutic Advances: Cellular Approaches

  • Angela M. Christiano, Ph.D., Professor Department of Dermatology and Genetics & Development, Vice-Chair of Basic Science Research Department of Dermatology, and Director, Center for Human Genetics, Columbia University College of Physicians and Surgeons, New York, NY (
  • Brian Kaspar, Ph.D., Principal Investigator, Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH (
  • Dr. Lorenz Studer, M.D., Director, Laboratory of Stem Cell & Tumor Biology, Neurosurgery and Developmental Biology, Memorial Sloan Kettering Cancer Center, New York, NY (

National Institutes of Health (NIH) and Food and Drug Administration (FDA) Initiatives for New Therapies

  • Phyllis Frosst, Ph.D., Director of Collaborative Operations, NIH Center for Transitional Therapeutics, National Human Genome Research Institute, NIH, Bethesda, MD (
  • Dr. Anne Pariser, Associate Director, Rare Diseases, Center for Drug Evaluation and Research (CDER) Office of New Drugs, FDA, Silver Springs, MD (

Importance of Family Support Programs and Social Networks

  • Jamie Heywood, Chairman and Co-founder, PatientsLikeMe, (
  • Sarah Goshman, Assistant Director, Jacob's Cure, Rye, NY (
  • Nicole Boice, Founder, Global Genes Project and Children's Rare Disease Network, Dana Point, CA (

The Road Ahead

  • Dr. Stephen Friend, M.D., Ph.D., President and CEO, Sage Bionetworks, Seattle, WA (
  • Arthur Caplan, Ph.D., Director, Center for Bioethics, University of Pennsylvania, Philadelphia, PA (
  • John Reiss, Ph.D., Associate Professor, Department of Pediatrics, Epidemoiology and Health Policy Research, Institute for Child Health Policy, University of Florida, Tallahassee, FL (

Through the generosity of conference sponsors, a limited number of scholarships are being made available to members of families affected by a rare genetic disease. The scholarship will cover the registration fee for the conference (travel and lodging costs are not included). Family members can submit an application online, using the registration scholarship form available at The deadline for submission is Friday, March 4, 2011.

For complete conference information, visit, or email,