Being Patient (December 3, 2018): For a Family With Near-Certainty of Early Alzheimer’s, the Search for a Cure Begins Within

December 3, 2018

Dr. Francisco Lopera was a young medical resident in Antioquia, Colombia when he encountered his first familial Alzheimer’s patient in the mid 1980s. The patient, a man from a local village, was only 47 years old. Over the next few years, Lopera would meet more and more patients like him—all middle-aged adults with severe memory problems.

Intrigued by this trend, he decided to investigate. What he discovered would revolutionize how science understands familial Alzheimer’s disease and give lead to one of the first Alzheimer’s prevention trials in the world.

Over the next three decades Lopera unearthed more and more cases of people in mid-life with symptoms of familial Alzheimer’s and traced their family trees. He discovered that almost every case came from a single extended family whose members carry a rare genetic mutation, called the Paisa mutation, that gives them almost a 100 percent chance of getting Alzheimer’s disease. Lopera had uncovered the largest concentration of early-onset cases in the world—a devastating reality for the families but the perfect laboratory for scientists in search of a cure. Lopera had uncovered the largest concentration of early-onset cases in the world—a devastating reality for the families but the perfect laboratory for scientists in search of a cure. The fact that family members with the mutation had near-certainty of developing the disease presented scientists with a unique opportunity to see if it could be prevented.

After years of research and planning, in 2011, Lopera and his team launched a multi-million dollar drug trial with the Banner Alzheimer’s Institute. For Dr. Lopera, who has seen the devastating impact of the disease on the families in Antioquia, it was a big moment.

“I’m very happy because, for the first time, we are able to offer hope to the population,” said Lopera. “We were working for 30 years without hope, without real options. We don’t know if the clinical trial is going to work but we are doing something. This is a new era for us.”

www.beingpatient.com/familial-alzheimers/