What: 3rd Annual Sanford-Burnham Rare Disease Symposium
Where: Sanford-Burnham Medical Research Institute, La Jolla, Calif.
When: February 24, 2012
Keynote speaker: Dr. Eric Green, director of the National Human Genome Research Institute (NHGRI) at the NIH
Sanford-Burnham’s successful series of Rare Disease symposia is based on the concept that treatment of rare diseases requires participation and exchange among all stakeholders—scientists, physicians, affected patients and their families, support groups, granting agencies, industry, and philanthropists.
This year’s event, organized by Dr. Hudson Freeze, will focus on Glycosylation-Based Disorders: Discovery, Patients, and Progress Toward Treatments.
Save the date now. Program and registration information will be available soon. In the meantime, video and media coverage of last year’s event are available here.
What are rare diseases?
According to the Office of Rare Diseases Research at the NIH, rare diseases are roughly defined as conditions affecting fewer than 200,000 people in the United States. Although these diseases can be devastating, there is often little incentive for pharmaceutical companies to devote resources to developing new diagnostics and therapeutics for conditions that affect so few people. As a result, rare disease therapeutics are known as orphan drugs.
Fortunately, Congress passed the Orphan Drug Act in 1983, providing incentives for researchers and pharmaceutical companies to develop treatments for rare diseases. Since then, more than 200 new drugs and products designed for rare diseases have been developed and made available to patients, a big improvement over the fewer than 10 orphan drugs that reached the market in the decade before 1983. Still, orphan drugs represent a small fraction of the total number of therapeutics developed each year.
What are glycosylation-based disorders?
Children born with glycosylation-based disorders have inherited mutations in a gene that directs glycosylation—a process where enzymes coat proteins with sugar molecules. Lack of sugars disrupts cell growth, differentiation, and communication. There are many types of glycosylation-based disorders, each characterized by a mutation in a different gene. Symptoms of vary widely, and can include mental retardation, digestive problems, seizures, and low blood sugar. Glycosylation-based disorders are extremely rare. However, new diagnoses are increasing every year as doctors become more aware of this family of diseases and as scientists identify more genes involved in glycosylation.
Read more about rare disease research on our blog:
New Hope for a Rare Disease
Progress on Rare Diseases
La Jolla Collaboration Helps a Young Iranian Girl
A Chance Encounter Saves a Child’s Life
Some Thoughts on Rare Diseases
Rare Disease Symposium Has Uplifting Moments
My Moment with Corinna