Dr. Rudolph E. Tanzi is a world-renowned scientist and professor of Neurology at Harvard University. Investigating the molecular and genetic basis of neurological disease since the 1980s, he co-discovered three of the first genes that can cause early-onset familial Alzheimer’s disease, including amyloid precursor protein (APP) and presenilin. In 1993, Dr. Tanzi discovered the gene responsible for the neurological disorder known as Wilson’s disease, and over the past 25 years, he has collaborated on studies identifying several other disease genes including those causing neurofibromatosis, amyotrophic lateral sclerosis, and autism.
Dr. Tanzi has published nearly 500 research papers and has received the highest awards in his field, including the Metropolitan Life Foundation Award and Potamkin Prize. He received the 2015 Smithsonian American Ingenuity Award and was named to the 2015 list of TIME100 Most Influential People in the World. He co-authored the popular trade books “Decoding Darkness”, New York Times Bestseller, “Super Brain”, and “Super Genes” He was named by GQ magazine as a Rock Star of Science, and in his spare time, has played keyboards with the band Aerosmith, guitarist, Joe Perry, and singer, Chris Mann.
Most recently, as director of the Alzheimer’s Genome Project, Dr.
Tanzi has used mutations in the same genes he helped identify decades earlier (APP and presenilin) to create a three- dimensional human stem cell-derived neural culture system that recapitulates both AD plaque and tangle pathology (Figure). This revolutionary development made great strides to overcome the limitations of Alzheimer’s disease models to date. Mouse models with familial Alzheimer’s mutations exhibit amyloid accumulation and memory deficits, but fail to recapitulate other features of AD pathology such as neurofibrillary tangle pathology. In contrast, human neurons derived from AD patients have shown elevated levels of both toxic amyloid species and phosphorylated tau, but failed to form both amyloid plaque and neurofibrillary tangle pathology.
Using this system, Dr. Tanzi is able to study the pathogenic mechanisms of Alzheimer’s disease, and test therapeutics for AD including gamma secretase modulators and metal chaperones to lower beta-amyloid and tangle burden in the brain.