As a physician and a scientist, I study a rare disorder, Gaucher disease. I have been motivated to continue to study Gaucher disease for the past 25 years because I feel that our understanding of basic aspects of this disorder are still lacking, and that my patients with Gaucher disease, whom I have grown to know and love, will benefit from these discoveries.
Unexpected Association – However during the past 10 years, a discovery made in the Gaucher clinic has shown that studying a rare disorder can also have far broader implications. We noted that a few of our patients with Gaucher disease developed symptoms of Parkinson disease. This was a relatively rare occurrence, and initially we thought that it could be a coincidence- after all, having a rare disorder does not make you immune from other common diseases. But the finding persisted, and in 1994, I published an article describing 18 patients with Gaucher disease who had developed a seemingly unrelated movement disorder, Parkinson disease.
Parkinson disease is a common disorder that is known to have a complex inheritance. This means that unlike Gaucher disease, which results from mutations in one specific gene, Parkinson disease can have many causes and many genes likely contribute to how the disease presents. Patients with Parkinson disease develop a resting tremor that often begins on one side, but they can also have slowed movements, unstable posture and gait, and at times, dementia. It affects about 1.5% of the population over age 65, and the risk increases with advancing age. There are disorders associated with Parkinson disease called the Lewy body dementias that have similar manifestations, but more progressive dementia.
Continue reading Parkinsons Gaucher story … by Ellen Sidransky M.D.
Become A Champion
Our champions are people who have taken on the cause to find a cure. They are families grieving the loss of a family member. They are friends and loved ones affected by the disease. They are concerned companies and committed students. They help this quest for a cure by …
- making their own personal donations
- sponsoring conferences
- hosting memorial golf tournaments
- organizing other charity events
- asking their communities to make donations in lieu of gifts for birthdays and anniversaries
- creating corporate programs for matching employee donations
Read some of the inspiring stories about our champions to get ideas for how you can make a difference, too.
Continue reading Become a Champion