You’re invited to Rare Disease Day at Sanford-Burnham in La Jolla

| Written by sgammon
Header image

Did you know that in the United States there are more people with a rare disease than people with cancer and AIDS combined?

Rare Disease Day is an internationally recognized day to raise awareness about rare diseases and their impact on patients' lives. There are more than 6,000 types of rare diseases, and most of them are genetic disorders that affect children. The term “rare disease” is a designation of disorders that affect fewer than 200,000 individuals. For most rare-disease patients, the rarity of their disorder makes the process of an accurate diagnosis a significant challenge—requiring extensive genetic and biochemical tests. Equally, if not more, challenging is the search for effective treatments to improve the health and lives of those that suffer.

On February 27-28, 2015, Dr. Hudson Freeze, director of the Human Genetics Program at Sanford-Burnham, is hosting the Institute’s 6thAnnual Rare Disease Day Symposium in La Jolla, Calif. This year’s theme is “Treating Disease with Sugar,” and is inspired by new research on how simple sugars may be a potential therapy for some rare and some not-so-rare diseases such as multiple sclerosis, cancer, and diabetes.

The concept of treating diseases with sugar stems from the positive results originally seen in a subset of children with glycosylation disorders. Glycosylation is the metabolic process of adding sugar molecules to proteins, and is essential for proper protein functions. For some children with mutations in the gene(s) required to carry out glycosylation functions, supplementing their diet with mannose (a simple sugar) has alleviated severe symptoms—such as seizures—that are characteristic of the disorder.

On February 27, the symposium will feature scientists and physicians presenting the latest research into the impact of simple sugars on aging, immune function, cancer, and the development of diabetes. Additionally, the clinical progress of sugar as a treatment for GNE myopathy—a rare genetic condition that affects skeletal muscle—will be presented.

On February 28, a “doctor is in” session will be held to offer patients, physicians, and researchers the chance to interact and share information in an informal, collaborative environment.

The event is FREE and open to anyone with a genuine interest in rare diseases—patients, families, researchers, physicians, and others.

Website and registration:

Live symposium webcast:

What: Rare Disease Day

Where: Sanford Children’s Health Research Center Building 12 Auditorium 10905 Road to the Cure San Diego, CA 92121

Scientific Symposium Friday, February 27, 2015 9 a.m.-5 p.m. PST Lunch included with registration

“Doctor is in” Session Saturday, February 28, 2015 9 a.m. -1 p.m. PST Breakfast included with registration

For more information contact

Related Posts

GNE myopathy