Celebrated Neurologist Who Identified World's Largest Alzheimer's Family Dies at 73

Dr. Francisco Lopera, a renowned neurologist from Colombia, passed away at his home in Medellín at the age of 73. Dr. Lopera gained international recognition for his pioneering research on Alzheimer's disease and his work with the world's largest extended family affected by the condition. His death, caused by metastatic melanoma, was announced by the neuroscience group at the University of Antioquia, where he led until his retirement last month.

During his nearly 40-year tenure as a professor at the university, Dr. Lopera made significant contributions to the field of Alzheimer's research. His groundbreaking work involved identifying the genetic cause of the disease in the extended family he studied, as well as spearheading efforts to find drugs that could prevent or delay the onset of symptoms. He also played a crucial role in discovering genetic mutations that could potentially halt cognitive decline.

In addition to his research, Dr. Lopera dedicated an immense amount of time and energy to providing care and support to patients and their families. He identified approximately 6,000 members of the large Colombian clan affected by the genetic mutation that causes early-onset Alzheimer's, with symptoms typically manifesting in their 40s and leading to premature death in their 60s.

According to Dr. Yakeel Quiroz, a Colombian neuropsychologist and director of the Multicultural Alzheimer's Prevention Program at Massachusetts General Hospital, Dr. Lopera was deeply committed to finding a cure for Alzheimer's while also prioritizing the care of those who were already living with the disease. His empathy and dedication helped transform the perception and understanding of Alzheimer's in the poverty-stricken and violence-ridden villages of Antioquia, where the condition was once attributed to superstitions and stigma.

Dr. Lopera's quest to identify the cause of the family's disease began early in his career when he encountered a patient with memory loss and discovered a history of similar symptoms in the patient's relatives. Through meticulous research, including poring over historical records and creating intricate genealogies, Dr. Lopera uncovered ancestral connections dating back to an 18th-century Spanish couple, leading to the identification of the genetic mutation responsible for the condition.

Overcoming significant challenges, including resistance to brain donation, Dr. Lopera and his team successfully obtained brains for analysis, confirming the presence of Alzheimer's through plaques and tangles. This breakthrough enabled further research on the Paisa mutation, as it is colloquially known, and provided an invaluable opportunity for understanding and studying the disease.

Amongst his many accomplishments, Dr. Lopera built a brain bank with over 300 samples and established a registry for the extended family to facilitate ongoing research. He also led a clinical trial of a drug aimed at preventing Alzheimer's in family members before the onset of symptoms, which revolutionized the field of prevention research.

Although the drug trial did not yield the desired results, Dr. Lopera's collaborative efforts with researchers like Dr. Eric Reiman, the director of the Banner Alzheimer's Institute, led to the discovery of additional protective mutations that could offer potential insights for future Alzheimer's treatments.

Dr. Lopera's outstanding contributions to the field of Alzheimer's research were widely recognized and honored. This year, he was awarded the prestigious Potamkin Prize, often referred to as the Nobel Prize for Alzheimer's research. In 2020, he received a lifetime achievement award from the Alzheimer's Association, further acknowledging his immense impact on the fight against this devastating disease.

Beyond his scientific accomplishments, Dr. Lopera's indomitable spirit and fearlessness were evident throughout his life. He courageously served as a doctor in rural areas, even during times of conflict and danger. His dedication to reaching communities in need resulted in life-saving interventions and improved healthcare access for countless individuals.

Dr. Francisco Lopera Restrepo, born on June 10, 1951, leaves behind a legacy of scientific excellence and compassion, inspiring generations of researchers and healthcare professionals. His tenacity and unwavering commitment to finding a cure for Alzheimer's will continue to guide the ongoing efforts to tackle this global health challenge.