All Press Releases for October 14, 2022

Clemson's Dr. Luigi Boccuto, MD Leads His Field Into the Future of Medical Genetics, Urges Students to Find Their Inner Flame 

Dr. Luigi Boccuto is a Clinical Associate Professor specializing in autism spectrum disorder and related conditions, such as Phelan-McDermid syndrome, and more. He recently granted an exclusive interview, which you can read below.

    CLEMSON, SC, October 14, 2022 /24-7PressRelease/ -- The alluring call of genetics came easily and clearly to Dr. Luigi Boccuto, who decided on his specialty before he decided on medicine in general. It is this kind of against-the-grain thinking that has earned Dr. Boccuto such a remarkable reputation amongst his peers and colleagues.

Luigi Boccuto is a Clinical Associate Professor at the Healthcare Genetics and Genomics Interdisciplinary Doctoral Program of the School of Nursing at South Carolina's esteemed Clemson University. He is a published author countless times over and a seasoned public speaker, which includes a TEDx talk that ended up becoming hugely influential and impactful for people everywhere. And the impact is precisely what Dr. Boccuto set out to make when he began his career decades ago.

"Before I knew anything, I knew that I wanted to make a difference," explains Luigi Boccuto, MD. "I have enjoyed a successful career, but it is thanks in no small part to all of those mentors and special people along the way, the ones who challenged and helped and taught me in so many ways."

Other people aside, Luigi Boccuto himself has put in nothing but hard work throughout his career. Never afraid to challenge conventional thinking, he has developed brilliant ideas on topics as far-ranging as mental disorders and SARS-CoV-2, which you likely know better as COVID-19. Dr. Boccuto is renowned all over the world for his work on autism spectrum disorder and related conditions such as Phelan-McDermid Syndrome.

Recently, we had the opportunity to sit down with Dr. Boccuto and ask him about all this and more. Here's how it went:

TSR NEWS GROUP: When did you decide to become a doctor? When you first went into medicine, had you already made up your mind about genetics and that being the field you wanted to be in? Last but not least, why did you choose genetics?

DR. LUIGI BOCCUTO: That's a very interesting question. And I have a very interesting story to tell about it. I actually picked genetics before medicine. When I had to decide my path, I wanted to do something impactful. And I loved how genes regulate so many phenomena, so many things related to our health, our behavior, our body. But I wasn't sure if I wanted to become a biologist or a medical doctor. And that choice was facilitated by two of the most influential figures in my life, my grandfather and my first mentor, Professor Giovanni Neri from Rome.

I actually entered two different universities, one for biology and one for medicine. And I started attending classes for med school. My grandfather came with me, and he went to talk with Professor Neri and he convinced him, a total stranger (that was kind of funny if you think about it), he convinced him to talk with me and to clarify this doubt that I had. And Professor Neri was very frank and very direct and said, "They're both wonderful paths. They will both fuel your thirst for knowledge and give you the opportunity to investigate genetics from multiple angles. But if I have to pick one, I would suggest going through the medical path, because you will get a better idea of the clinical impact of genetic disorders—so, how to connect the genetic abnormalities to what we call the phenotype, so that the manifestation in terms of clinical signs and symptoms." And that convinced me. So, of course, I loved medicine before and I still love it. And I never regretted that choice, never regretted picking that path. But I feel that everybody has to find the right way to get to the gold and the targets. And my choice wasn't so clear at the beginning, but I'm happy that I took it that way.

TSR NEWS GROUP: That's a fascinating story, and you should be happy. Now, Catanzaro and Rome, the beautiful Italian cities where you were born and studied, respectively, are both a long, long way from where you call home now, that being Greenwood, South Carolina. This is true geographically and culturally, of course. But what brought you from Italy to South Carolina specifically?

LUIGI: Well, towards the end of my residency in medical genetics at the Catholic University in Rome, I was looking for an opportunity abroad. And thanks to the long-lasting collaboration between my university and the Greenwood Genetic Center in South Carolina—and particularly Dr. Charles Schwartz, who has become my second mentor—I was able to become a research fellow at the Greenwood Genetic Center. And I'd say I love the center. I love GGC. I love their mission. And I feel privileged that I was able to work with Dr. Schwartz and Dr. Roger Stevenson, the founder of the center and my third mentor, for such a long time. I spent 14 years at GGC, wonderful years, that gave me so much, the opportunity to serve the people here in South Carolina and all around the world, to establish research networks, and to grow as a person and as a professional.

TSR NEWS GROUP: Wow. Amazing. Now, Dr. Boccuto, you don't necessarily approach science in a traditional way. In fact, in a TEDx talk, you famously said, and I'm paraphrasing a bit here, "We learned that one gene equals one trait, and one mutant gene equals one disease. Remember that? Good. Now, trash it." And then you went on to make a very interesting tree analogy, referencing a dying seed and a growing tree. So, walk us through it in 2022 rather than 2017 when the TEDx Talk took place. Do you still hold the same philosophy? Has the theory evolved over time?

LUIGI: First of all, yes, I do still hold the same philosophy, and I think that it's even evolved. I believe that one of the worst mistakes in science is becoming too confident in a certain theory or position, regardless of the evidence of data. Genetics has experienced a shortage of new positivism, an era where everybody was building expectations. And this area peaked with the results of the Human Genome Project. That was outstanding, revolutionary. We all know that the gene, along with the atom and the bit is one of the units that revolutionized the 20th century and the 21st century is going along that way.

But the problem is that many people had too high expectations on the results of the Human Genome Project, believing that the sequence of a genome could hold the solutions to all diseases. Instead, we learned that the impact of genes on our lives is different. There are fewer genes than we expected, just a few more than 20,000. But their regulation is more complex than we originally thought. So, the same gene may have multiple effects, a phenomenon that's called pleiotropy. Or different variants of the same gene may cause different disorders, a condition that is called allelic disorders. But most importantly, we learned that the vast majority of the effects of genes' variants are not deterministic.

So, it's not enough to have a variant in one gene to cause a disorder. Instead, these variants are predisposing to the development of certain disorders. And this has to be factored in a probabilistic equation that includes other parameters, such as genes' variants, other genes' variants, or environmental factors. So, in simple words, genes have more to do with our lives than we thought, but have less power than we expected.

TSR NEWS GROUP: Interesting. Now, elsewhere in that same TEDx talk, you discussed the coexistence of genetics and environment in terms of diseases like cancer and diabetes, and you stated, and I quote, "It always needs one or more environmental factors to actually cause the disease," unquote. Does this mean that a man whose father, grandfather, and great-grandfather all died of heart attacks could avoid that same fate through his own personal choice? What is the... and I apologize for the phraseology, but what is the genes-to-environment cause or the 'blame ratio'? And what can we do to help ourselves if we're predisposed to something?

LUIGI: This is a crucial question in the new translational era of medicine because really it gives us the perspective on what we can do with the information. For decades, that genetic knowledge, that genetic information was gathered, was considered something immutable, something that couldn't be changed. And now we learned that through this new probabilistic approach, new predisposing effect, the genetic variants are not something that just needs to be accepted. Not only the environment can influence the onset of disease, but also its severity and treatment.

So, yes, knowing about the genetic predisposition for a complex, multifactorial disease like cancer or diabetes still leaves some margin to work on environmental factors and prevent such disease or mitigate its effects. The genes-to-environment ratio is hard to calculate and varies from disorders that are entirely determined by genetic factors (we can think about Down Syndrome, for example), or other disorders that depend entirely on environmental factors (if we think about trauma). But there is a huge range in the middle where we can work, we have a margin to intervene.

So, yes, the son and grandson of a person who died of a heart attack can actually do something. And until we get to the point where we can work on the genetic factors by modifying whatever alteration in our genome is causing the predisposing effect, we can still work on the other face of the matter. We can still work on the environmental factors, lowering the risk associated with that.

TSR NEWS GROUP: Of course. That's amazing. You've done a lot of work in the area of autism, specifically. You've become quite renowned for it globally, as well. Something obviously fascinates you about this disease. So, what is it? And speaking of mental diseases like autism, is the role of the environment greater in the case of mental disease?

LUIGI: Autism is a very complex and challenging disorder. It affects features difficult to measure. It has a broad spectrum of severity that fades at a milder extreme into some unusual personality traits. So, we often have the idea of a person with a disease versus a healthy person. And we can hardly realize sometimes that, in the middle, there are very blurry lines when it comes to mental disorders. And it's very difficult to draw those lines.

So, this already is very fascinating. But then, on top of that, we have a myriad of candidate genes, over 800 candidate genes (some databases report even 1,000) that, of course, involve associated pathways that are disrupted to some extent in individuals with autism. And still, probably the most striking of all the features of this disorder is that it still has no effective therapy that works for every patient, or even for the large majority of patients, even if it's affecting more and more people.

So, it's fascinating to think about the possible perturbations of neuronal networks, how the gene-environment interaction could lead to multiple outcomes, how the same genes can be associated with phenotypes so diverse. So, solving the puzzle of autism would mean breaking the wall increasing in these patients, giving a voice to their feelings, decrypting some of the deepest secrets of our brain, and making the connection between genes and emotions. So, this, to me, is something extremely fascinating. And if we consider the environmental factors in mental disease, we don't know yet how important they are, because we are only using the approach from the genetic standpoint. We are trying to define what is the genetic profile of these individuals in order to understand how these genetic variants will eventually be triggered by environmental factors.

So, in some cases it is easy, like environmental toxicity, lead intoxication, or drugs, it's something that is very straightforward. But in reality, in order to really decipher what's going on in those blurred lines, we need to dig deeper on both sides, both the genetic side and the environmental one.

TSR NEWS GROUP: Wow. That's fascinating. Now, I want to talk about COVID-19. There have been countless stories about how certain families did much better than others, physically speaking when it came to COVID infection. There are also accounts of high-risk individuals getting infected, but barely being affected by it. What have you learned about COVID predisposition and genetic variants with respect to COVID and its own variants?

LUIGI: It's a dynamic balance. The virus can develop new variants at an incredibly high pace, considering the virtually infinite number of hosts. On the other hand, variants in our genome that are pre-existing (so they are there before the exposure to the virus) are selected by the environment, that is the exposure to the virus strains of the SARS-CoV-2 virus. So, the most likely result is the selection of a benign strain of SARS-CoV-2 that eventually will coexist without causing deleterious effects on our health.


LUIGI: But very few individuals will have a completely resistant genetic profile because the selection of genetic traits in humans takes generations. So, by chance, the composition—because there's not just one gene, there are multiple genes regulating our immune system, and specifically the response to this virus in selected tissues—the chance to have a large number of people that will be completely insensitive to the exposure to SARS-CoV-2 virus is very low. So, that is possible due to the infinite number of spontaneous variants in our genome. But that is not likely. So, the most likely outcome is that we'll reach, in that dynamic balance, a situation where few people will have deleterious highly symptomatic responses to the infection. And few strains of the SARS-CoV-2 virus will still be around that could cause those virulent infections.

TSR NEWS GROUP: Okay. So, what do you think the future of COVID looks like, Dr. Boccuto? Do we live with it as we live with the cold and flu? Do you foresee any more significant resurgences of the disease?

LUIGI: I think that, in the future, we will live with COVID just like we live with cold and flu. And hopefully even better, because cold and flu are still quite deadly in a large amount of the population. But, unfortunately, I do foresee some resurgences like the one that is currently ongoing in Europe, if we look at that in terms of epidemiology, in terms of people that are positive, so they contract the virus and they may or may not show symptoms of infection.

In terms of the severity of the disease, for what we were saying before, I hope that that dynamic balance will lead to increased immunity in the host, which is us (also thanks to the several ways of vaccination), and to a decreased morbidity aggressivity [sic] of the virus strains. So, I think that if we can broaden the field of my response to the conversation, I would like to make some considerations on the word 'after' COVID. Many people seem eager to go back to normal, quote/unquote 'normal'. But there's danger in that.

Going recklessly back to the way we behaved before the outbreak of SARS-CoV-2 would mean we didn't really learn our lesson. The world is getting smaller. The COVID pandemic spread almost instantly. It took less than a month to gain the title of a pandemic. And in four months, literally, every country reported a case. To give a comparison, the Spanish Flu needed almost two years to spread over two-thirds of the world. In this globalized world, we can't ignore the risk coming with overpopulated urban areas and continuous international travel. We must develop a new perspective. We must be aware of our responsibilities as members of the global medical community.


LUIGI: To give another comparison, life was never the same after AIDS. There was no normal to go back to because people who ignored the protective measures implemented to prevent HIV infection were risking their lives.


LUIGI: In a similar way, for the SARS-CoV-2 or other highly contagious airborne viruses, we need to accept that wearing a mask in a crowded theater in the winter season or washing our hands often may not be an imposition, but a healthy habit that saves lives.

TSR NEWS GROUP: Some really, really interesting points there. And like many people, I've been following these topics for years now, two years, whatever it's been. And that's an angle that I've literally never heard before. That's fascinating too, the idea that it's spread such a great distance in such a short period of time, and overpopulation. Really, really fascinating stuff. Now, you recently took on a new position in your profession, and I want to hear about that. What exactly is your new role? And what does this mean for your research?

LUIGI: I'm a Clinical Associate Professor in the Ph.D. program on Healthcare in Genetics and Genomics at the School of Nursing at Clemson University. I have more didactic tasks, and I'm very happy about them. I'm coordinating the lab activities at the School of Nursing along with Dr. Diana Ivankovic and I'm on about nine or ten thesis committees for Ph.D. candidates. And so, that's great. And most of all, I have the opportunity to share my passion and love for genetics and science in general with many graduate students, and some undergraduate ones too that attend our lab currently.

So, for my research, really it's great for the opportunity that Clemson University gave me for the lab equipment and resources. But, for me, it's even greater, it's the opportunity to spread the word of what we're doing and why we're doing it. To me, it's very important to set the example and show the new generations what science really is and what is their impact on everybody's lives.

TSR NEWS GROUP: Excellent. Objectively speaking, genetics is a pretty fascinating field that affects each and every one of us. Tremendous advancements are being made, things that the average person hearing or reading this wouldn't believe if you told them. So, on that note, give us some jaw-dropping details about the future of medical genetics and what's on the horizon.

LUIGI: The first thing that I would like to say is that we need to change our concepts of identity. Dismiss the idea of race the way it's known today. And embrace the fact that diversity is the norm. Each one of us is unique. It's not just a self-motivation model, but the emerging evidence from the post-genomic era. We are close to having our genomic ID. We completed the deciphering of the genetic code, now we need to put it to good use.

Assess risk for the monogenic rare disease as well as the complex ones, the multifactorial disease. Having personalized diets, training programs, even projected professions, but not mandatory ones. This is the key; we need to learn how to use this information. And, most importantly, the post-genomic era in medicine must bring us all together in the effort of preserving and improving life, preventing and curing diseases, and not creating new barriers based on our genetic profile.

TSR NEWS GROUP: Very well-said. Now, to parse your CV [curriculum vitae] for specific accomplishments is a bit like entering an endless maze—and I mean that in the best possible way. So, rather than wade through your career highlights, I want to hear from you. What are the things of which you're most proud? If you retired tomorrow, what is it that Luigi Boccuto would most likely be remembered for?

LUIGI: My goal is to help people. It's very simple, and yet very complicated. Helping others is a very elementary social instinct, and I believe it's intrinsic to human nature. However, it's not always easy to help people in need, even if you answer the medical call. The community of patients and families struggling with autism or Phelan-McDermid syndrome or other genetic disorders has had a tremendous impact on me as a professional and as a person. So, my goal is to be able to improve the quality of their lives to give something back.

But not just to them, because by understanding the daily struggle of these people that actually not only have to face a scary disorder, a scary diagnosis, they actually have to learn about that and educate the people around them. Family, friends, schoolteachers, even their own family doctors. It's something profoundly destabilizing. And I want to help these people in terms of learning, in terms of using that knowledge to improve their lives and improve other people's lives. Because, as we said, the more we learn about our genes, the more we learn not only about the extreme cases where the genes are deterministic, so they have a black-or-white effect and change the subject's entire life, but also about what the genes do in the full scale of colors, in the full shades of colors, and how slight modifications of the function of those gene products may affect our lives. Because that impacts way more people.

TSR NEWS GROUP: Last, but not least, what advice do you have for young professionals who are just now beginning their journey into the same fields of practice as you?

LUIGI: I would say a very simple phrase: Find your inner flame. And let me elaborate. I believe you must find out what moves you, what inspires you, what makes you happy. If your path leads you to the biomedical field, you must know you're going to face many challenging moments. And in those moments, you need to hold on even tighter to your inner flame, counting on it to light the way and fuel your engine, so that you can move past the obstacles. To leave a legacy, you must be ready to make an impact. And to do so, you must be ready to give something to science, to others, to your career. And thus, you have to take something from your life, time, energy, sleep, and sometimes resources. In order to do that and keep your balance, you must rely on your inner flame. You must rely on that energy that really moves you. And that is very important, because, at the end of the day, that is the biggest reward, to feed that flame, to reach your most intimate goals is more rewarding than any sort of financial remuneration or any sort of career achievement.

TSR NEWS GROUP: Beautifully said. Find your inner flame. That's sound advice, to say the least. Well, that about wraps up today's interview. And what an interview it was. I kind of wish we could just keep on talking, if I'm being completely honest. As we spoke, I kept thinking to myself, 'Well, this answer he's giving, it's so great. So great, in fact, it just keeps making me think of more and more questions' the more that you said! And that's the best type of interview, as far as I'm concerned.

So, your field of expertise, Dr. Boccuto, it's one of those unique ones. And I touched on this earlier in the interview about how it's an objectively fascinating topic. But it really is one of those unique fields to the layperson, to the non-MD, non-PhD holding general public, as it were. Genetics and the human condition, it's endlessly fascinating, and I think I can confidently state on behalf of most people that it's unusually relatable when it comes to the world of medicine. It's an area of often mind-boggling answers, but also quite a bit of mystery. As you put it during the interview, I think you said the secrets of our brains. And there really is a lot of mystery to it. But there are a lot of answers, also. And this includes endless possibilities and outcomes and nuances that are always relevant, because they're always about our uncontested number-one favorite subject as human beings, ourselves and humanity.

LUIGI: Absolutely.

TSR NEWS GROUP: You do great work, Dr. Boccuto. You are a credit to the world of medicine. And I know you'll keep up the great work. And as you do keep up the great work, I sincerely hope that we can sit down again sometime and continue this genuinely enjoyable discussion. So, thanks for being here today, Dr. Boccuto.

LUIGI: Thank you really. It was my pleasure. Thank you very much.

The above interview took place on June 30, 2022. For more information on Dr. Luigi Boccuto, please click here.

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