Alzheimer's, Aging & Down Syndrome Research
Genetic and environmental factors involved in diminished brain function in Alzheimer's disease, aging, and Down syndrome Rudy Tanzi has identified several different genes that can lead to diminished brain function in Alzheimer's, aging, and Down syndrome. He is also working to use information from gene defects that influence healthy aging of the brain, and to develop novel therapies for Alzheimer's.
- Occupation: Neurogeneticist and Professor of Neurology at Massachusetts General Hospital and Harvard Medical School. I have been investigating the genetic causes of Alzheimer's disease for over 25 years (since I was a student). I have co-discovered three of the four known genes that can carry defects leading to Alzheimer's disease. I wrote a lay book describing how we first found these genes and what we have learned about the causes of Alzheimer's disease by studying them. My current work focuses on finding new Alzheimer's disease genes while also learning how the known gene defects lead to Alzheimer's disease-related dementia and pathology, including nerve cell death. We are also attempting to use this information to develop novel therapeutics to treat and prevent the disease.
- Alternative career choice: Musician. I played in various types of bands (rock, jazz, etc.) throughout my school days and early research career, including a short stint with Ritchie Blackmore of the band Deep Purple, whose big hit was "Smoke on the Water." I soon learned that it is very difficult to become a successful musician. I say this because one can be the greatest musician in the world, but there is no guarantee that people will hear you unless you are fortunate to get the right representation and exposure. In contrast, in science, if you do great research, you can publish in a high-level journal and everyone will know of your work. As a student, when I isolated the first Alzheimer's gene (the amyloid precursor protein, APP), I was able to publish in one of the top scientific journals (Science), and overnight, the entire field knew of my work. So a successful career in science only requires doing great research and not having to also obtain the right "connections" to be successful. There are many similarities between scientists and musicians. Like musicians, as a scientist you can tour the world. The difference is you deliver lectures about your work instead of performing music. I must say that my experience on stage as a musician helped immensely in my confidence as a scientist on stage delivering talks about my research. Another similarity is that musicians need to balance how long they play the same material on the road, versus getting back to the studio and composing new material. Likewise, scientists must balance how long they present the same data on the road, versus focusing on producing new data. Finally, I would say that the creative process for musicians and scientists is very similar. It is important to think out of the box and try not to be derivative in what you do. Those who are most unique and creative in their work tend to be the most successful. However, as with music, what you produce in science must still be accessible and relevant to society for greatest success.
- Musical Instrument I Play: Piano, organ, synthesizer, harmonica.
- I tend to approach life: Purpose and happiness. My general philosophy is to learn from the past, live in the present, and plan for the future. I believe that whenever you set out on a task or goal of any kind, be it in science or otherwise, there are three essential ingredients for success: perseverance, dedication, and joy. If even one is missing, the odds for success are dramatically diminished. And when interacting with people, be they your fellow lab members or scientific collaborators, it is important to fulfill four criteria by stating only what is: true, helpful, necessary, and kind. Again, all four criteria are essential to maintain healthy and meaningful relationships with your collaborators and colleagues. Finally, I think it is critically important to follow your intuition at all times. Your brain can deliver much more information than you are consciously aware of at any given moment, and I believe it comes in the form of intuition.
- Biggest misconceptions about me or my work: 1. The idea that there are "disease genes." In fact, there are no "disease genes." There are only normal genes that can carry mutations or variations in their DNA sequences that predispose one to a certain disease, or in some cases, cause the disease directly. The gene itself plays a normal role and only leads to disease when it carries a particular defect in its DNA sequence. 2. When we find a gene associated with a certain disease we generally do not use "gene therapy" to treat the disease. Instead, we learn how the gene defects cause Alzheimer's at the molecular and biochemical levels, and then work from that knowledge base to devise novel therapeutics, usually "small molecule" drugs, to treat and prevent Alzheimer's disease. 3. Some believe that familial Alzheimer's is genetic while "sporadic" Alzheimer's is not. In fact, genetics plays a role in most (at least 80%) cases of Alzheimer's disease whether there is clustering of the disease within one's family (familial) or only a single case with no family history (sporadic).
- Worst part-time job ever: I worked one summer on a laundry truck picking up dirty clothes and delivering clean ones. (The driver didn't want us kids to eat his daily box of cherry cough drops, so he would make a point of starting every morning by spitting into the box of cough drops in plain view.)
- Longest med school study session: Dissecting the oldest part of the human brain, the brain stem, and identifying every region in neuroanatomy class. The brain stem is packed with different functional regions that are necessary for the basic functions of life and most are very tiny.
- Best moment in medicine/research: Boy, this is a tough one—so many great memories. I guess the greatest moment was in the fall of 1986 when I realized that we had surely isolated the first Alzheimer's disease gene, which was responsible for producing the amyloid deposits (senile plaques) in the brains of Alzheimer's patients. The gene, which we named the "amyloid beta protein precursor protein" (APP), was later shown to contain DNA mutations causing Alzheimer's disease. For so many major findings in science, there is a magical and limited period of time when you first come upon a new and exciting finding that you just know is going to be a great new discovery, and you say to yourself, "Right now, I am the only person in the world that knows about this new scientific fact that was never known before." It's a pretty cool feeling.