-
Science Saturday: Patients who make research happen
Share this:
Neuroscientist Tania Gendron, Ph.D. was in her lab on Mayo Clinic’s Florida campus when she received a phone call. On the line was a neurologist saying a patient had requested to meet her. It was an unusual request.
“I’m not a clinician, and my work is in the lab,” Dr. Gendron says. “As scientists, we almost never have occasion to interact with patients.”
The patient, Sandra Murphy-Pak of Gainesville, Florida, had been donating her spinal fluid to a Mayo research study on Lou Gehrig’s disease, which also know as amyotrophic lateral sclerosis or ALS. As a person with ALS, Murphy-Pak knows the study’s results might not help her symptoms, but she feels like being part of a study is an important contribution.
Proteins That May Speed Clinical Trials for ALS
Dr. Gendron’s work in ALS builds on a recent discovery: an unusual genetic mutation, C9orf72, that causes thousands of repeated sequences within the genetic code.
The mutation has been found to occur in nearly 40 percent of all familial cases and 10 percent of sporadic cases of ALS. It also occurs in 5 to 10 percent of people with frontotemporal dementia, a related neurodegenerative disorder. Now, several neuroscience labs on the Florida campus are studying the C9orf72 mutation and how it causes ALS or frontotemporal dementia.
After Murphy-Pak was diagnosed, a blood test showed she carries the mutation. Though she was taking in the severity of her diagnosis, she was glad to help in the study of a disease that has no effective treatments. She didn’t mind giving spinal fluid every few months, which she says seemed intimidating at first but turned out to be painless. Read the rest of this article, written by Kate Ledger, on the Discovery's Edge blog.
_________________________
Other Mayo Clinic medical research websites:
- Research at Mayo Clinic
- Discovery’s Edge
- Advancing the Science
- Forefront
- Mayo Clinic Center for Individualized Medicine
- Center for Regenerative Medicine
- Center for the Science of Health Care Delivery
Share this:
Related articles
The holiday season can invite unwelcome guests into your life, such as loneliness, money problems, family demands and unrealistic expectations. The stress and anxiety that ...
National Handwashing Awareness Week will be observed Dec. 3–9, so this is a good time for a reminder that washing your hands is one of the ...
The Food and Drug Administration is expected to decide by Dec. 8 on a new therapy to treat sickle cell disease using gene editing technology called CRISPR, ...