When: February 28, 2013, 8:30 a.m. – 5:30 p.m. PST
Where: Live at Sanford-Burnham Medical Research Institute in La Jolla, Calif.
Webcast at sanfordburnham.org/rarediseaseday
Organized by: José Luis Millán, Ph.D.
professor in Sanford-Burnham’s Sanford Children’s Health Research Center
Keynote speaker: William A. Gahl, M.D., Ph.D.
clinical director of the National Human Genome Research Institute (NHGRI) and director of the NIH Undiagnosed Diseases Program
Gahl is a NIH medical sleuth who tackles mysterious maladies. (But don’t call him Dr. House!)
On Twitter: @SanfordBurnham #RareDisease
Program and registration: Click here to view the full program, register for the webcast (free of charge) and receive viewing instructions
Rare diseases are roughly defined as conditions affecting fewer than 200,000 people in the United States. Although a relatively small number of people are diagnosed with each individual disorder, there are 6,000 different rare diseases. Added together, these affect 1 in 10 Americans—30 million people.
There’s no doubt that research on rare diseases—usually inherited disorders affecting children—saves the lives of the affected. But information provided by rare disease studies can also shed light on many more common disorders. The theme of this year’s symposium, Calcification Disorders – from Hardened Arteries to Soft Bones, highlights recent findings on hardening of the arteries (a common age-related condition) that grew out of research on hypophosphatasia, a rare disease that weakens bones.
The event will be feature participation and exchange among all rare disease research stakeholders—scientists, physicians, affected patients and their families, support groups, granting agencies, industry and philanthropists.
Video, blog posts and more from Sanford-Burnham’s Rare Disease Day Symposium 2011 and 2012
More blog posts on rare disease research at Sanford-Burnham
National Office for Rare Disorders (NORD)