Genetic Diseases of Children: Advancing Research and Care

MENANDS, N.Y. – March, 2011 -- World-class scientists, clinicians, caregivers, advocates, and government and industry leaders gathered this month to discuss genetic diseases of children and mobilize efforts to improve early diagnosis and health care services, and spur research for new therapies.

Convened by the New York State Department of Health (DOH) and sponsored by Health Research, Inc. (HRI) and others, the Genetic Diseases of Children: Advancing Research and Care conference brought 500 attendees to Manhattan on March 8 and 9, 2011. The meeting drew praise across the board -- from patients and parents, advocates and experts – and calls for future such forums.

Nicole Boice, an invited speaker and founder of the RARE Project, reported on the Network's blog that: "Most conferences discuss theories, postulate and talk a lot about 'what can and should be done' about a topic. The GDC Conference created an agenda that successfully worked to change that. The producers of this event wanted actionable outcomes; wanted patients, caregivers, industry and non-profits to walk away with ideas, plans of action and connections. And guess what, I believe that they accomplished just that!"

Some 7,000 rare genetic diseases and disorders affect approximately 30 million Americans, taking the life of 30 percent of affected children by their fifth birthday. The national conference was the first to encompass the full spectrum of diseases and to welcome all concerned parties and stakeholders to the conversation.

Giving voice to the parent's perspective was keynote speaker Jim Kelly, Buffalo Bills Hall of Fame quarterback and co-founder of Hunter's Hope Foundation. His young son Hunter was lost to Krabbe Leukodystrophy, an inherited nervous system disease. More than 100 speakers, representing not-for-profits, medical schools, academic centers, advocacy groups, state and federal government, pharmaceutical companies and parents, participated in three-dozen panel discussions.

DOH's Wadsworth Center, which operates a highly regarded newborn screening and genetic services program, organized the event with input and support from affiliates, including the National Institutes of Health's (NIH) Office of Rare Diseases Research, NIH's Office of Dietary Supplements and the Jeffrey Modell Foundation.

The resulting agenda packed information into five tracks: Reaching an Early Diagnosis; Sharing Family Experiences; Optimizing Care and Coordination of Services; Children Living with a Genetic Disorder: Meeting Their Needs; and Accelerating Research.

For parents and professionals alike, having face-to-face informal interactions within and across their communities proved invaluable. Once started, they wanted the conversations and interactions to continue, ensuring progress toward the meeting's goal of exploring a state-based model for early diagnosis, optimal care and coordination of services, and accelerated research for improved treatments.

"I can not begin to express my appreciation for the opportunity to participate in this conference. Some background information – I have a 19-year-old daughter with a rare disease. Because of this conference, I was able to be in the company of and network with the BEST docs, researchers, families....," said parent Colleen Munshower.

More than 50 family members and patient advocates were awarded scholarships thanks to Health Research, Inc. and other underwriters secured by HRI, including: National PKU Alliance, Biotechnology Industry Organization, Save Babies Through Screening Foundation, Inc., Genetic Alliance, National Organization for Rare Disorders, Positive Exposure and Thomas Patrick Morrison Foundation.

Said scholarship recipient Rosemary Randazzo: "I wanted to thank you for the scholarship to the conference on Genetic Diseases of Children that I attended this past week. I gained a lot of information this week that will help with my three children with Cystic Fibrosis. I will also share with other friends and families with children with genetic diseases the information and resources that I learned about. Again, thank you."

Additional support for workshops came from Genzyme, Perkin Elmer, March of Dimes, Biomarin, Qiagen, QLT, Inc., and National Center for Research Resources. 

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