For Brian Kunkle, an awful personal experience sparked a passion to pursue a career in medical research.

When he was in his early 20s, he witnessed the devastating effect Alzheimer’s disease had upon his grandmother.

“This was tough to see and then to watch the terrible effect it had upon my grandfather and everyone else in my family,” he said.

Kunkle, a 1994 graduate of Lehighton Area High School, where he played baseball and ran cross-country, is a member of a prominent team of Miami University researchers who have recently identified five new genes that cause this debilitating disease.

Gene pool leads to graduate school

The chances are very high for members of Kunkle’s family to acquire Alzheimer’s, an irreversible, progressive brain disorder that slowly destroys memory and thinking skills, and eventually the ability to carry out the simplest tasks. The disease was named after Dr. Alois Alzheimer, a German psychiatrist, who published a journal about dementia in 1906.

“Of course I’m worried,” he said. “Most of my 11 siblings have a very high percentage of carrying the gene that causes Alzheimer’s, which is a form of dementia. The genetic component also exists in both my mother’s and father’s sides.”

The burden of a frightening family prognosis influenced an educational journey for the now 42-year-old father of a newborn that resulted in him earning a bachelor’s degree in environmental studies at Shippensburg University.

“I loved the outdoors growing up in Lehighton, which certainly influenced my interest in science.”

A master’s degree in public health and then a doctoral degree from Florida International University landed Kunkle a job as a research associate at Miami University working with Dr. Margaret Pericak-Vance, a professor at the Hussman Institute for Human Genomics. There Kunkle and Pericak-Vance and a team of international researchers conducted a large-scale study to determine more about the genetic propensity of acquiring Alzheimer’s disease.

National news

The research team that made up the International Genomic Alzheimer’s Project studied the genetic makeup of 94,000 people, the largest sample group ever in the U.S. and Europe with clinically diagnosed Alzheimer’s.

“We compared those with Alzheimer’s with those who had healthy brain function and we discovered five new genes that are now added to the already known 20 genes that increase the risk of the disease,” said Kunkle.

The study, funded by the National Institute on Aging, also determined that the newly discovered genes work in tandem with other degenerative genes in the brain that can cause mental malfunction. This information was recently published in the Nature Genetics journal and was revealed to the public by way of a telephone conversation held on the CNN television network.

In the journal, Dr. Pericak-Vance said, “Alzheimer’s is a complex disease. It’s not like Huntington’s or Parkinson’s, where one gene is altered and you get the disease. With Alzheimer’s, it’s multiple genes acting together. We were trying to get at the very rare gene variants that could contribute to Alzheimer’s. And we couldn’t do that before. We just didn’t have the sample size to do it.”

No one size fits all

Kunkle, a lead author of the study, said, “Prediction of risk and treatment for each individual will rely on what types of changes a person has in each of those 25 genes or biomarkers.”

Currently, one out of 10 people age 65 and older have Alzheimer’s and the risk increases to one out of three at 85 years and older. Predicting whether someone will get the disease is now the intense objective of biomedical research.

Diagnosing the disease is based upon eliminating other causes, but it’s still an educated guess,” said Kunkle. “Proof of the disease is found in an autopsy that shows the loss of brain cells and the entanglement of protein clusters in the brain.”

With the differences of interactivity of the 25 degenerative cells, there will be no one therapeutic measure to treat everyone who has the disease.

“Different medicines would have to be created for each individual case,” said Dr. Kunkle. “This would be truly personalized medicine.”

He explained that in actuality, the researchers have “no target to shoot at,” because not everyone with Alzheimer’s has all of the 25 genes. The results of the testing will help the researchers decide on where to focus further study.

Patience is a virtue

Kunkle and his team of researchers have also concluded the new mutations in genes may play an earlier role in the development of the disease than originally thought.

Although highly unusual, people in their 30s and 40s have been diagnosed with dementia, so early screening for the degenerative genes is recommended, especially in families where the potential of acquiring Alzheimer’s is prevalent.

“Alzheimer’s can be very gradual in growth and patients can be afflicted for 10 to 15 years before it causes death due to brain cell deterioration, ” said Kunkle.

Although these new findings are progressive and currently relevant, he cautions that any new therapies toward enacting a cure for Alzheimer’s may take 10 to 20 years before being put into the public mainstream for use.

Kunkle is fully aware from his family experience that the long wait does not bode well for those who currently have loved ones living with the disease.

“It’s the personal side of this issue that drives me to make this research a lifetime passion of mine,” he said.

“The more we know about the Alzheimer’s will make it easier to create what we hope will be a cure.”