When one family found over 50% of their offspring were developing Alzheimer’s disease, researchers decided to take a closer look at the family tree and found that the family carried a genetic mutation that caused early onset Alzheimer’s.
Read more about the large family in Colombia who is now playing a crucial role in the search for a cure for the disease.
Family’s Genetic Mutation Could Hold the Key to Alzheimer’s
A family in Bogota, Colombia may hold the key to Alzheimer’s disease. The family’s genetics revealed, when tested, that the majority of its members have a rare genetic mutation which causes early-onset Alzheimer’s.
Dr. Ken Kosik, a Harvard professor lecturing in Colombia, noticed that the disease was attacking multiple members of this family in their mid-forties.
“When we looked at the family trees, about 50% of the offspring were getting the disease. That’s a clear signature of a gene,” Kosik stated.
“Rare Window” Into the Pathology of Alzheimer’s
Those identified as having the Alzheimer’s gene have been participating in a research study for over three years. Researchers have tried therapies on the family members who have the gene but have not yet developed symptoms, to try to prevent the disease.
Researchers are currently participating in a multimillion dollar clinical trial, which is testing an immunotherapy drug that targets beta amyloid plaques in the brain.
CBS News says the clinical trial and family provide “a rare window to see whether a treatment might be able to prevent Alzheimer’s.”
The studies are supported by Banner Alzheimer’s Institute in Phoenix, Genentech, the National Institutes of Health and philanthropists.
Researchers are hopeful the newest drug will stop the progression of the disease for those who do not have symptoms. Dr. Pierre Tariot of the Banner Alzheimer’s Institute, said the best outcome “would be [that] nobody who receives the immunotherapy experiences any worsening of their thinking or memory ability — doesn’t change at all, doesn’t decline. That would be fabulous. That’s a stretch goal.”
It will be years before the study concludes, but Dr. Claudia Kawas, a researcher from the University of California Irvine, said:
“If it makes a difference for them, I think there’s a reasonable chance it could make a difference for all the rest of the people who get Alzheimer’s disease.”
Do Alzheimer’s disease or dementia run in your family? How do you feel about the family in Colombia holding the key to Alzheimer’s research? We’d love to hear your stories and thoughts in the comments below.
- Facing Alzheimer’s with Knowledge Before Diagnosis
- Is Alzheimer’s Genetic?
- What You Need to Know About Familial Alzheimer’s Disease