Personalized Medicine: A New Approach
Dr. Boccuto is a clinical geneticist who trained for several years under Professor Neri in Rome with a focus on in hereditary cancer, overgrowth syndromes and intellectual disability (ID) syndromes. Dr. Boccuto is currently an assistant research scientist at the JC Self Research Institute of the Greenwood Genetic Center. His main projects are focused on the study of the genetic causes of autism, ID, and conditions with segmental or generalized overgrowth. He is also characterizing the metabolic profiles of cells from patients with overgrowth, autism, ID, and other neurodevelopmental disorders.
Dr. Boccuto presented “Personalized Medicine: A New Approach” at TEDx in Greenville, South Carolina to share an inside look at how personalized medicine is offering a new sense of hope to those affected by rare medical conditions.
TED stands for Technology, Entertainment and Design. Where does your topic fit into this equation?
My life science-related topic doesn’t fit nicely into any one category, though I believe it complements the TEDx specialties of technology, entertainment and design.
Technology: New approaches in the era of personalized medicine require state-of-the-art technological advancements.
Entertainment: I hope the topic itself was as entertaining for the audience as it was for me to share. One of the main goals of TED is to provide a good time for the people in the audience, regardless of the topic of the talk. It might be hard to translate science into an entertaining talk for such a variegated audience as the one at TEDx, but I did my best and I hope that, with the precious help of my tutor and my coach, the result was enjoyable for everyone.
Design: Providing a solution to complex disorders requires re-designing the traditional approaches.
“If we are dealing with a COMPLEX disorder, why would we expect a SIMPLE solution?”
Can you summarize the main point of your TEDx talk?
I used autism as an example of a complex disorder still largely unknown. The more we study autism, the more we realize that detection of gene variants alone is not sufficient to understand what causes this condition. Therefore we developed a novel approach based on a larger field of investigation: we are not looking at the DNA, nor at its products (proteins), but at the whole metabolism. Interactions of multiple proteins are necessary to make our cells survive, proliferate, and attend to their specific tasks. Our aim is to evaluate if cells from individuals with autism “behave” differently from cells from controls. In order to do so, we expose to different compounds and we observe how they react, that is how their metabolism utilizes each compound.
“Genetic investigations of the causes of autism have been following the <one mutant gene = one disease> model and therefore we have been looking for single changes affecting single pathways, that might cause clearly recognizable differences. […] Unfortunately, so far this approach has not been sufficient to solve the autism riddle yet.”
Why do you think your topic was worth sharing?
It’s difficult to know what will look cool in the eyes of others. I hoped the topic would reach the audience directly and indirectly because many people have been affected by autism in one way or another.
Our idea of the impact of genetics on our lives is changing and is leading to new and better strategies in research and, eventually, in the medical practice. The fact that there’s a new approach to medicine is exciting and can relate to many people. I think that is worth sharing.
“With complex disorders we are changing our perspective of the role of genetics in our lives: we are moving from determinism […] to predisposition.”
What was your favorite part of the process?
Finishing. There’s such a big machine behind the ted process so after finishing I was able to relax, be a spectator, and enjoy the others performances. After giving my talk and taking a big, relieving breath, it was great to see the other speakers and performers and fully appreciate the process they (and I) went through to get to that stage.
What was the most challenging aspect of the experience?
To find a way for my message to reach everyone, regardless of the diversity in the audience. I really wanted everybody from the audience to bring home something from my talk.
How long have you been working on this research project?
Since I arrived in Greenwood in 2007. I initially worked on autism candidate genes, then metabolic arrays to explore the differences between cells from individuals with autism and controls. Autism has been my main area of study for the ten years I’ve been here.
Are there other responsibilities of your position that has helped prepare you for the TEDx presentation?
Being an educator and mentor for interns interested in scientific research.
What is the most valuable advice you received from your coach?
To make sure each individual in the audience left with one clear message.
What advice would you give a future candidate if you became a TEDx coach?
Remember that every life and experience is unique and keep that in mind when sharing your ideas with the world. If you think your idea/experience is worth sharing, make sure it’s available in a way everyone can relate to. Get ready to share a part of yourself with the world, not just a talk.
What did you and the other TEDx speakers have in common?
The willingness to share ideas, educate, and bring joy to others.
“The goal of the new personalized medicine must not be to treat a disease, but to design the best possible cure for each and every human being.”
What is one idea you wanted the audience to take away from your speech?
The role of traditional genetics, especially for complex disorders, is being rethought.
Personalized medicine is the new and exciting approach. It means that in order to go from population to individual the key is to look at the bigger picture.
“To deal with a complex model, we change our approach: we look beyond the single gene, beyond the single protein, beyond the single pathway.”
How did your message represent the mission of Greenwood Genetic Center?
In order to give greater care and provide the best service possible, rigorous and precise research is necessary.
We need up-to-date technology to perform better experiences, but we also need the right vision. The design of our project is focused on translating our research from bench to bedside table, so that our community will benefit from more precise and efficient treatments. In simple words, a better approach in the research experiments will lead to the design of a better treatment profile and eventually to provide greater care.
“This massive amount of information (gathered from the new wider perspective) is already changing medicine, calling for a more personalized approach.”
If you were to choose one slide from your PowerPoint to share with the world, which would it be and why?
The last slide. It shows how our knowledge of genetics has changed. We have learned to detect not only major deleterious mutations, but also to identify minor variants and assess their impact on our health. Such impact might be small if we consider the variants individually, but if we look at the whole picture and take into account all the variants, their overall impact may still lead to important complex disorder, such as autism.
Our studies brought us to look at neurodevelopment as a lake being filled by many rivers: each river has its own particular characteristics in terms of color of the water, levels of salts, fish population, and so on. The delicate balance of all the characteristics provided by the rivers determine the proper development of our nervous system (green circle in the top left of the picture) and allows us to acquire complex functions such as language, social interaction, or processing of sensorial inputs.
For many years we have been accustomed to consider the effects of a single major gene defect as sufficient to determine the clinical features of a genetic condition. In our model that would be a river going completely dry, or a massive rock blocking or deflecting its course (red circle in the top right of the picture). By looking at a bigger picture, we are now learning that the combined effect of minor changes can still produce a significant disruption of our brain. For example, if the color of one river slightly changes and the fish population in another is halved, the individual effects on the rivers might not look significant, but they can still alter the final balance in the lake. In the same way, minor changes in the complex metabolic pathways determining our neurodevelopment may not look important if investigated individually, but we can assess their true impact only by looking at the ultimate effects that they can generate once combined (grey circle in the bottom of the circle).
“The <one mutant gene = one disease> concept […] has been the seeds of medical genetics, but just like the seed must die to bare much fruit, so we need to go beyond that concept to fully understand the genetic impact, the genetic imprint on our lives.”