Dr. Gwynette: Hello. My name is Dr. Frampton Gwynette, and welcome to the Autism News NetWORK podcast. We are joined today by an incredibly special guest, Dr. Daniel Moreno De Luca. Welcome, Dr. Moreno De Luca.

Dr. Moreno De Luca Hello, Frampton. Thank you so much for having me. It’s really great to be here.

Dr. Gwynette: Yeah, this is really a unique opportunity. You can follow Dr. Moreno De Luca on Instagram, which is @dani, D-A-N-I, .brunn, B-R-U-N-N. You can also follow him on Twitter, which is at D-M-O-R-E-N-O-D-E-L-U-C-A. That’s @dmorenodeluca. Of course, you can follow me on Twitter and Instagram at drgwynette, and we can always be found on the Autismnewsnetwork.com. That’s the Autismnewsnetwork.com. We have lots of great videos and podcasts and first person accounts, so we hope you’ll join us there. So. Dr. Moreno De Luca, thank you so much for being here. How are things first of all in your world? You’re up in Rhode Island. How are things in terms of the coronavirus, and how’s everyone holding up?

Dr. Moreno De Luca I think we’re doing okay, all things considered. So, the governor has had a pretty good response. We were early in trying to stay at home. We have been doing a pretty good job in ramping up testing. So, I think we’re one of the states that has the highest rate of testing. So, we’re already starting to consider reopening some businesses. On the hospital side of things, we got a couple of field hospitals ready, which thankfully we haven’t had to use, but things are standing by if it came to that. I think, of course, the general mood has been pretty collaborative and supportive. It’s been great to see how neighbors stand up for and help out each other. So, that’s been pretty good. Having said all of that, of course, this is a big deal for everyone and in all of the states and in all of the world, actually. So it’s taking a toll to some degree in mental health of people, patients, providers and the entire community. So we in psychiatry, of course, we’re trying to help people with that as well, but also trying to find the time to readapt to this new reality, working from home, doing consults from home. So that’s been a change.

Dr. Gwynette: Yeah, it’s been a lot of change, as you said. Some people are going through a very hard time, a lot of us are. It’s very stressful time. That’s why your visit today is so, I think, uplifting because you are a musician, as well as a doctor. You recently released a song that’s very, I think, very uplifting and inspiring. It’s called Outer Space. We’re going to talk about that, but just, if you pull some background, what is your day job? What’s your specialty as a physician?

Dr. Moreno De Luca Okay. So I am a physician, I’m a psychiatrist, and then I’m also a child and adolescent psychiatrist. I spent the majority of my time working with people on the autism spectrum, and people with developmental disabilities and different other challenges. My time is spent between the clinic where I devote 25% of my time to outpatient clinical care, and where we have a very special service called the Genetic Psychiatry Consultation Service, where we see people with either autism or developmental disabilities who have had genetic testing and who had an abnormal genetic result, so then we can provide care tailored to that specific genetic background. Then the other 75% of my time, I spend on research on autism genetics as well. My research and my clinical interests are very closely intertwined, which helps move the whole program forward.

Dr. Gwynette: Yeah, exactly. When people ask you why genetics is so important in the world of autism, what do you say?

Dr. Moreno De Luca So, I think autism is one of the conditions with the highest genetic component, meaning that we can identify an underlying genetic factor in about 30 to 40% of people with autism. So that’s a huge number. If we think about other types of tests that are done for other indications, to have a yield as high is pretty meaningful. Because of that, many professional societies, including the American Academy of Child and Adolescent Psychiatry, the American Academy of Pediatrics, American Society of Human Genetics, and the American College of Medical Genetics and a bunch of others have recommended genetic testing, and specifically two types of genetic testing called chromosomal microarray testing and Fragile X testing to be offered for everyone that’s on the autism spectrum.

Now, I think the key point is that it should be offered to people and not done, meaning that this has to be part of a joint discussion. I think also an important part to highlight is that I’m in a clinic, I’m in a hospital. The people that I see who are on the autism spectrum tend to come to us not because of autism spectrum, but because of other challenges, either with mood or anxiety or even some different thought patterns. That’s what we are trying to help with, and that’s in my view, a little bit of a skewed population in the sense that there are many people on the autism spectrum who don’t necessarily seek out medical or mental health care because they might not need it at that point.

So that’s my perspective. To go back to the genetics piece, the idea is that we’re able to use that genetic information to help the clinical course of people who do come and seek our medical help. So, we know that many of the genetic abnormalities that come up or the genetic changes that come up might be associated, not only with autism, but with other medical findings. So it could be heart problems or things like that. All of that is important information to keep in mind when we’re thinking about how to best help people, who come to us who are on the autism spectrum.

Dr. Gwynette: Absolutely. You mentioned 30 or 40% may have genetic reasons associated with their autism. So, if there’s very likely a large number of people who have autism who are walking around, unaware of the genetic differences that they may be carrying. So, therefore, the testing could reach people and give them information about why they have autism or also, how likely it is to run in their family and be passed on.

Dr. Moreno De Luca Yeah. That’s a really key point because, as you said, we tend to think about these genetic changes being rare, and they’re actually called rare genetic changes, so the tests that we talked about will pick up rare genetic changes. The name rare comes from the low frequency in the general population. So each of the individual genetic changes that we detect with this test has a very low frequency in the population. So that’s way below 1% or actually the most frequent one could be around 1%. But then when you bring them all together, that’s when they make up that 30 to 40%. I think it’s important-

Dr. Gwynette: It’s a product. Yeah.

Dr. Moreno De Luca I was going to mention that I think it’s important because if we think about it, and if we think about other types of medical conditions or of mental health conditions that are occurring out there in the community, the frequency or the amount of people in the US, who have autism, because of an underlying genetic change or an underlying rare genetic change is as large as the amount of people in the US, who have HIV, for example. That’s a very conservative estimate. We know that autism and HIV have nothing to do between each other. But I’m just bringing that up so that we appreciate the impact on the public health side of things.

Dr. Gwynette: Absolutely. The size of the challenge. Absolutely. So you’re doing a tremendous amount of great work in the field, and you’ve dedicated your life to serving individuals with autism and their family. We’re so grateful for your work. Taking a big pivot now, that’s also inspired some of your recent musical output. You’re a musician as well.

Dr. Moreno De Luca Yeah. I’m an amateur musician. I loved playing music when I was in high school and then throughout medical school. So, I love doing that. I had a couple of bands. We put out a couple of records. We got to do a little bit of touring around Colombia, which is my hometown. Then we played several shows with my other band when I was back down in Atlanta for my postdoctoral fellowship training. So, it’s something that’s very close to my heart. It’s a very nice venue to be able to talk about many things that are important to me and hopefully important to some other people.

Dr. Gwynette: Yeah, absolutely. So, when you were a kid, what was the first instrument that you picked?

Dr. Moreno De Luca The guitar. I remember that my mom had a guitar that was stashed away in a closet somewhere. By the time I got it, it only had three strings, but I thought it was the coolest thing. So that’s how I got started. Then little by little, I got my own guitar, and then I moved on to the electric guitar, and then it just kept on growing from there.

Dr. Gwynette: Yeah, that’s awesome. So, on your most recent recording, I noticed you played multiple instruments. You played the vocals, guitar, bass, and some others.

Dr. Moreno De Luca Yeah. So, it’s been interesting because I’m more used to having a band, and for us to be a lot of people together, playing the music. This time around, it was a little bit challenging to get the whole band together when I went back to Colombia. I really wanted to record these songs. Thankfully, the string instruments, the guitar and the bass are pretty similar. So, we gave that a shot. I had a very close friend who’s an awesome drummer, and he helped out with the drums. Then the production, which is what specific sounds you want to look for in the guitar, we worked with the person who recorded some of our previous work. That came out really great. So it was a small-ish team, but with a lot of support, and it was a lot of fun.

Dr. Gwynette: Yeah. For the audience, you’ve got to hear the song Outer Space [inaudible 00:11:42] by Brunn, the recording. B-R-U-N-N, correct?

Dr. Moreno De Luca Yes.

Dr. Gwynette: What’s the origin of that name for your band?

Dr. Moreno De Luca That’s a great question, Dr. Gwynette, because this is actually the first time that I bring together both the medical side of things and the music side of things. I tend to keep them apart a little bit. Brunn is my pen name. It actually means Moreno, which is the first part of my health name in Icelandic. I love languages, and I was learning Icelandic for a little bit. I felt that it had a nice ring to it, so I just use that, but it’s actually my last name.

Dr. Gwynette: That is so cool. Then this song. So tell the audience how Outer Space was inspired by your experience working with patients with autism and their families?

Dr. Moreno De Luca So, this is a very special song for me because, as we just discussed, I work a lot with people on the autism spectrum. I’m keenly aware of the challenges that they have when they come to see us knowing also that this is only a small proportion of people on the autism spectrum. Many of them don’t actually have to come and seek out mental health care. But the ones that do, I’m keenly aware of their challenges. Then I’m also blown away by those stories and the strengths, and the talents that many of the people who come to our clinic have. I really wanted to express that from my own perspective, also very well acknowledging that no two people on the autism spectrum are alike, and everyone is going to have their own narrative.

I just wanted to put in a little bit of my perspective on that with a strong emphasis on people going into the world of people on the autism spectrum rather than trying to have people on the autism spectrum come to our world and to our so-called normal. So, integrating those perspectives a little bit better and being able to appreciate things for what they are, and the wonderful narrative that many people on the autism spectrum have.

Dr. Gwynette: That is so great. I should have goosebumps. You’re going to have to take my word for it because I can’t share the video. That idea of bringing the world of autism, bringing that perspective to the masses versus the other way around, that’s incredible.

Dr. Moreno De Luca Thank you so much.

Dr. Gwynette: Yeah. It starts out quietly, with just the vocal quiet, and then it really builds up into a, I think, an exciting crescendo. Was that by design?

Dr. Moreno De Luca It was, yes. So the lyrics, which I’m happy to share as well. They talk, at first, a little bit about the challenges and how overwhelming things can be. Many of these things are sensory stimuli. It could be bright lights or nauseous or things like that. So we’re going into that world first. Then, once we’re there, it opens up, and it shows us all of the wonderful things that are there that could be considered by some people that are not on the autism spectrum as challenges, but that are actually part of the richness of those narratives.

So, then the song starts describing some of that. Then we try to include many of the specific interests that many of the people on the spectrum that I see have. So for example, at the beginning, I know that many of the people that I see love trains, and that’s a big deal. So I really wanted to include a train beat. So the drums start slowly, and it sounds like a train until they kick off.

Then I also wanted to emphasize a lot of that in the career. So, once you open up to that possibility, then you see the whole thing blossom, hopefully, really nice. I think one of the messages is, again, trying to bring people into the world of autism of the people that I know. So for example, it doesn’t have to be an entire color palette, it can be only red. That’s one of the lines in the colors actually. So, if your thing is the color red, then it’s okay for everything to be red. You don’t have to balance it out or to do anything like that. It’s okay to appreciate a lot of those interests, like outer space and that’s actually one of the main reason why I chose the name for that song. It can be any of those things, and you can delve as deeply as you want into those particular interests and just appreciate them for how cool they are.

I think it’s very special also to know that there’s a lot of diversity in autism. So, it’s great to see that those interests are going to blossom differently depending on the person that’s in front of you. So, for some people, it could be outer space is one of those. I was thinking of a patient that was really into astrophysics, and he would just get a strong interest and then delve as deeply as possible into that. Then for some other people, either people who might not be variable or who have bigger challenges. It could be things as simple as building these amazing structures out of Legos or things like that. So I wanted to capture as much of that perspective in there. That’s why the song has all of these crescendos and all of those pieces.

Dr. Gwynette: Yes. As you’re talking, I can really get the feeling that this song is about acceptance, accepting who they are, accepting what they love, meeting them where they are. Really, that’s so important for individuals on the spectrum and families to say, “We accept you just how you are, and we’re going to celebrate those differences.” The song I think really reflects that.

Dr. Moreno De Luca Yeah. I am glad that you feel that way because this one actually doesn’t say autism anywhere, which is by design as well, because it is exactly about celebrating those differences, and it could be difference from many different areas, even if it’s a little bit redundant. It’s just highlighting how rich our lives are because of difference pretty much.

Dr. Gwynette: Yes. Yes, absolutely. In addition to the song, and you’ve also created a written piece called What’s Your Thing, right?

Dr. Moreno De Luca Yeah.

Dr. Gwynette: Tell me about that concept of What’s Your Thing?

Dr. Moreno De Luca So, that one is under review still, so hopefully, it will come out, but we’ll get it out there one way or another, and without going into too much of the details that they don’t really allow you to speak too much when you have a paper under review. This is an idea that I really like, and it’s actually one of my favorite pieces when I see someone on the autism spectrum on our clinic, which is… It’s a very important question like, what is your thing? It can be one thing or it can be multiple things. I thought it was such a nice way of getting to know more about the narrative of people and families on the autism spectrum. It’s something that spans beyond the autism spectrum as well that I think would be a great way of emphasizing and supporting that we all have our thing.

For example, for me, it would be, I don’t know, I love languages. So, I really like the structure of different languages, and I really like two amplifiers. So, for the guitar, just trying to figure out the tubes and how that works on the circuits and all that stuff. Many people have their thing. So that’s one of my favorite questions to ask in the clinic. I think, it would be a really nice way of continuing to raise awareness that all of us have our thing. That it would open a door to learn more about those narratives. That’s why I chose that as the leading piece for that manuscript.

Dr. Gwynette: Yeah, absolutely. That’s great. If you could dream with me now, what would you dream for the impact of this song be?

Dr. Moreno De Luca I think it’s funny because this is the same way that I felt with the songs from my previous bands, which is just as a way of expressing some emotions and some thought, a personal way of putting that out there. In an ideal world, I would love for people to feel identified with the song, which I try to do in the most respectful way to honor the experiences of people on the autism spectrum. If they wanted to use that as a way of asserting that it’s okay for everyone to be the way that they are and to celebrate those differences and blasted when they’re home, or if that helped carry forward the message that difference is not only okay, but it’s welcome and it’s rich, and if we could get this to as many people who need it, not only on the autism spectrum, but also from the general population of people who don’t have, or who are not on the autism spectrum. So they appreciate that richness of stories I think that would be wonderful.

Dr. Gwynette: Absolutely. One of the things that struck me about the recording is that this song is not like a light pop song. This is a song with lots of deep emotion, beautiful emotion, and it rocks out. I was so struck to think, “Gosh, the man who’s singing this and recording this, he’s a doctor.” I think it’s so beautiful that you show that side of yourself, and then we’re willing to share it with the world. It’s a great song.

Dr. Moreno De Luca Thank you so much. It’s very kind of you to say that.

Dr. Gwynette: Yeah. I was talking about the influences with one of our colleagues, Dr. Rebecca Muli and as well as some of our Autism News NetWORK team members. The concept of shoe gazers came up. One of my participants said, “What’s a shoe gazer?” So, Dr. Moreno De Luca, what is a shoe gazer?

Dr. Moreno De Luca So, a shoe gazer is someone who looks at their shoes a lot, pretty much. That’s where the term came from, but it’s this music style, heavily rooted in the ’90s, where I think the best way to describe it is that you’re faced with a wall of guitars. So it’s all about texture of the sound rather than a specific melody. So, it just slaps you in the face, and this massive amount of guitars that just wrapped around you and they submerge you into the song.

The reason why the shoe gaze term came about, I think, I guess there’s a lot of theories, but was because there’s a lot of emotion in that music, but then when people would go to the concerts, they would just put their head down and just hang out there looking at their shoes while these super powerful heavy music was around them. So I thought that was a cool term that we came up with.

Dr. Gwynette: You described it, perfectly. I was a huge shoe gazer then. The loudest concert I ever saw was My Bloody Valentine. I think my ears were bleeding out to that show. It was the loudest thing for 17 minutes. In fact, they just played this one note for 17 minutes, and it was so incredible, but it was so emotional and so cool. So, it really brought me back when I listen to your song. But also it’s very modern, too, and it’s very accessible, I think, what you recorded. So, well done.

Dr. Moreno De Luca Thank you. Thank you so much. I hope people like it, too.

Dr. Gwynette: Yeah, I know they will. So, yeah, I was going to follow up on that question. Who are some of your favorite musicians?

Dr. Moreno De Luca Music is so special to me that I have so many favorites. I know that one of my biggest influences has been Smashing Pumpkins all throughout the years. I remember buying their first records. I’m just seeing how they evolve. Then I also started to get a lot into the punk rock side of things. That was a big thing back in Colombia when we started having a band. So, there were bands like Taking Back Sunday or MxPx, which are just full of energy, upbeat. They just make you start moving, talk about behavioral activation. Just play one of those records and you will be all set.

I really like some of the newer bands, which I guess are a decade old already. But there are bands like American Football that are, I think, they would fall under the math rock space, which is a little bit more, let’s say, that they keep your mind and your ears really active because there’s these changes that you don’t really expect or different rhythms, but it’s also full of guitars. I really like a lot of guitars and heavily layered guitars, and a lot of [inaudible 00:26:01] on Dinosaur Jr. as a shoe gaze fan myself. It’s one of my favorite bands, too.

Dr. Gwynette: I don’t want to put you on the spot, but did you ever listen to a band called Ride?

Dr. Moreno De Luca Yeah. I love them.

Dr. Gwynette: Yeah. They’re fantastic.

Dr. Moreno De Luca Yeah. They’re very, very good. Yeah.

Dr. Gwynette: Yeah. Lots of layers to that also. You’ve lived all over the world, haven’t you?

Dr. Moreno De Luca I have. I-

Dr. Gwynette: Yeah. What are your favorite places that you live, to tell the audience about your experiences?

Dr. Moreno De Luca So I was born and raised in Colombia. I stayed in Colombia for the longest time until I finished medical school. Then I knew that I wanted to travel the world, and I hadn’t gotten too much of a chance to do that. Also, as you might tell, my last name is really long, Moreno De Luca, it’s actually two last names because we used two last names back home in Colombia.

De Luca is an Italian last name. I have an Italian passport as well, and I’m Italian by heritage. So, I felt compelled to go to Italy and try to reconnect with those roots that I hadn’t known in person before. So I went to Italy for a short fellowship. I always find it that there’s always a good academic excuse to go places, and it’s one of the nice things about being in academia. So, I went to Bologna in Italy for a couple of months for a short fellowship. That was wonderful. I learned the language, as I mentioned. It’s one of my things. So, Italian is pretty similar to Spanish in pronunciation, and the structure of the language. I really wanted to reconnect with that, so I delve deeply into Italian courses. I learned that, and I sort of perfected it there.

There was such great food and people and the rhythm of life was very different, seeing all the architecture and all that richness in history was wonderful. Sorry?

Dr. Gwynette: No, go ahead.

Dr. Moreno De Luca Then at that point, I also wanted to continue like I got bit by the travel bug, let’s put it that way. Then I’ve always wanted to go to France and to Paris. I went there, I’ve started looking at opportunities. I went there for my Master’s in neuroscience. So, I spent a little under two years in Paris at one of the branches of the Sorbonne, which is the medical side, Pierre and Marie Curie. That was wonderful. The main campus of the university was by the same river, and you could see the entire river and Notre-Dame from the lab, which was amazing. So there, I also had a chance to learn a new language, which I really enjoyed. But then to get to see that culture, and Paris is probably my favorite city in the world. I really, really like that city.

It was a great experience being there. Then ultimately, I knew that I wanted to do my specialty training in psychiatry here in the US and in genetics. So, I came to Atlanta for a postdoctoral fellowship. That was also really, really great. I haven’t been too much in the southern part of the US, and I have an uncle and an aunt that live in Atlanta, so I got exposed to really good food. I think, that’s a recurring theme, like some of the best barbecues. Then people were really nice and open.

Then from there, I started going out in the country here in the US. So I went to New Haven, for my residency in psychiatry to here. That was great as well because it gave me a sense of a little bit of the feeling of being back in a city where you can live in downtown and work everywhere. That was really great, and I love my time there. Now, I’m in Providence, which again reminiscent of some of the European cities without rigor in the middle, which I like the blend of those different flavors. I came here for my training and I stayed since then.

Dr. Gwynette: Yeah. I mean, just an incredible wealth of experiences and geographic diversity. You’ve lived in multiple countries and spent time there. So, you’re fluent in Spanish, Italian, French, English. Any others that you’re working on?

Dr. Moreno De Luca I was learning Icelandic. I’m nowhere, even remotely close to being fluent. They had this special program at Yale when I was doing my residency for rare languages. So, they would put together people who wanted to learn the same language. I think, three of us in the entire university. They would pair you up with a native Icelandic speaker or a native speaker of the language that you’re interested in. So, I took that for a good semester. It was a great way of getting re-exposed to Icelandic. I have the privilege of being there initially for collaboration that we had with deCODE genetics, which is one of the largest genetics groups. They’re doing a remarkable job in Iceland.

Then we went back with my wife for a vacation. We drove around the entire country. It was fantastic. It’s like being in a different planet. I’m very drawn to the culture there and to the landscape and to the language. I really like the feeling of not understanding a single word, and then starting to understand them and starting having those things make sense as you delve more deeply into the language, and not only the actual words, but the way that people express themselves and the different weights that they put on different either words or expressions. So, for example, in Icelandic, I think there’s more than 10 ways that you can say snow. Of course, in Colombia, we have one, and that’s it. We don’t have too much snow.

Dr. Gwynette: Exactly.

Dr. Moreno De Luca So just seeing how the language tells you so much about the culture of a place, I really like that.

Dr. Gwynette: Yeah. Absolutely. That’s great that you’re working on a fifth language. So, just as we wrap up here, I was going to ask you, what your dream would be for what our medical field can deliver for individuals with autism and their families in the next so many years?

Dr. Moreno De Luca So, I am a big fan of precision medicine. This has been gathering a lot of attention recently. This pretty much says that in a nutshell, that you can personalize treatment very significantly based on the conditions that make you unique. A very big piece of that is going to be genetics. So, I think I want to start with the disclaimer that what we’ve mentioned before, which is that not everyone on the autism spectrum ends up seeking either medical or mental health care. So, these perspectives are specifically for people who seek us out. In that sense, I would love for us to be able to offer the genetic testing and have those discussions with the families, knowing that the families are the ones who call the shots and who will ultimately decide whether this is right for them or not.

In spite of those medical recommendations, that genetic testing is only happening, at least, in our state, in our recent study that we did, only at a frequency of 3%. So we have a 97% gap to fill to offer those tests. We know that from other papers that have been published before the vast majority of people, who are offered genetic testing actually carry out that genetic testing. That the feelings are, if there’s data that can help my medical conditions, then I would definitely want to use that data.

So in an ideal world, I’d love for this to be offered to all of the people who come and seek out medical care and mental health care. Then for us to be able to develop specific interventions, which I like to call actionable interventions based on those genetics results. So, for example, taking one of the persons on the spectrum that comes to our clinic, of course, without providing any details us a general idea, let’s say, that someone came in and they were having a lot of difficulties with maybe seeing things that are not there or hearing voices or things like that, which some people might experience.

Then we know that there are some medications that work really well for that. That might impact, for example, how quickly the heart beats. Then we know that there’s a lot of genetic conditions that are also associated with heart changes, or they have different shapes of the heart or a vessel that’s not going exactly to the place that it is supposed to go. We know that many of those heart conditions might not yet have been discovered. So, if we see someone, let’s say, on the autism spectrum who’s seeking out care for us, we do the testing, we identify a genetic change that’s associated with heart abnormalities, then we’re able to test that person for those heart abnormalities before even starting to consider using any medications that might impact how the heart works. So again, a little bit of [crosstalk 00:38:49].

Dr. Gwynette: Yeah, there’s nothing more important than that. If you can get information at their heart that they would not have been, that’s incredibly important.

Dr. Moreno De Luca Absolutely. I think one of the biggest things that goes a little bit unrecognized is the impact that genetic testing has on families. So we know that two of the main things are that, one, it puts an end to the diagnostic odyssey that many families face when the results come back with an explanation. So, in many families, they have to go through muscle biopsies and these very intense testing from hospital to hospital, just knowing that there’s something that’s going on because their family members might, or they themselves might not only have be on the autism spectrum, but also have other medical conditions. Then just knowing that there’s a central reason why all of this is happening is incredibly relieving for a lot of families.

The other one that I to emphasize a lot is that it’s like a secret key. You, all of a sudden, have access to a door that you didn’t even know was there before. So, it turns out that we’re talking about a lot of rare genetic changes. The world is a big place. We’re doing right now, we’re very well connected. There’s internet. So many families find support groups of other people who have the same rare genetic change. Then they can get connected they know a little bit more what to expect. They can be tremendous sources of support for the families, especially, because even their doctors might not know too much about these because these are rare genetic changes. So, those are two of the benefits that I think come from having that genetic information available, which are “simple,” but extremely helpful and extremely powerful.

The other piece that I wanted to emphasize really quickly because we’re under subject is that there’s a lot of different genetic testing mechanisms and ways of getting genetic testing. We are talking specifically and exclusively about something called diagnostic genetic testing. This is something that you get done through clinical lab, where your doctors installed a genetic test and you have to wait a little bit to get those results. This is not what we call direct-to-consumer genetic testing, which is where you just buy something at Target and then you send it out to a company and then they come back to you. That’s a different type of test that looks for common genetic changes and not the rare genetic changes that we’ve been talking about. It’s also not pharmacogenetic testing, which is some testing that people have done to see how well they might respond to some medications.

I think on that end, the promise of pharmacogenetic testing is really good. We’re still trying to get to build up the evidence to make that really clinically useful. So, this is a very specific type of genetic testing. I just wanted to drive that whole point home.

Dr. Gwynette: Absolutely. That’s a key distinction. It brought to mind for me the SPARK study. I’m one of the coinvestigators at our Charleston site for SPARK. Can you tell the audience a little bit about what SPARK for autism is and what the overall concept?

Dr. Moreno De Luca Sure. So SPARK is an initiative by the Simons Foundation, which is a philanthropy foundation that has done remarkable work in boosting the science around autism, and specifically around autism genetics. The goal for SPARK is to bring together one of the largest groups of people with autism in the world to try to understand a little bit better their phenotype, which is their clinical features, which is to say that the way that people behave or any medical conditions that they might have, we all have a phenotype. So, it’s not specific to people on the autism spectrum, but it’s just a way of describing our own features, both from a behavioral side I’m from a medical side, and then coupled that with genetic testing at the highest level.

So, they do a very detailed type of genetic test, which is called exome sequencing, which pretty much looks at all of the genes in the entire genome decoding sequences. So, if it were a book, they’re reading every one of the words in the book. They’re not looking at the blank spaces between the words, but they’re looking at all of the words. The idea is that as we have a very large data set, we might be able to understand some lessons that are very difficult to understand on smaller studies.

Dr. Gwynette: Yeah. That is such a great explanation. I think it’s really cool, but that study has brought this genetic testing to the main street USA where they’re trying to reach people in small towns, who maybe can’t get to academic centers, and they can do testing online, and that it will lead to great discoveries and treatment options for patients.

Dr. Moreno De Luca Me, too. I just wanted to get one key thing, which is one of the nice things about the SPARK study, as I understand it, knowing that I’m not directly involved as one of the organizers of this study, is that they’re doing the testing under clinical conditions. We know that you have research testing on one side, and then you have clinical diagnostic genetic testing, where the standards are really high. You have to do a really, really thorough job and confirm everything to be able to report something clinically. They started the test with those very high standards, meaning that this is information that could potentially go into the medical records and that could be clinically useful now, which is one of the things that I’m the most excited about.

Dr. Gwynette: Absolutely. Absolutely. Yeah, so we are very fortunate today. Our audience has heard from Dr. Daniel Moreno De Luca. Dr. Moreno De Luca is both a scientist and clinician. So, for our audience, all doctors are not scientists, okay, and all scientists are not doctors. But Dr. Moreno De Luca is both. He’s a master in the field of autism spectrum disorder and other developmental disabilities. He’s also a master geneticist. He publishes extensively in this area.

He’s also a master of languages. I think we heard that during our interview today because he has a way of distilling down very scientific information in a way that can be understood in the common language. Then he’s also infused his musicianship into his work. He has a heart for individuals that he works with, and we saw that. If you want to see more of Dr. Moreno De Luca’s heart, you need to listen to the song Outer Space and the [inaudible 00:46:27] that it’s on. Dr. Moreno De Luca, where can people find this music?

Dr. Moreno De Luca So, it’s going to be available starting May 1st on all of the main platforms. So Spotify, Apple Music, YouTube Music, Tidal, and many others. So, we try to make it as widely available as possible.

Dr. Gwynette: Yeah. So, we’re recording April 30th, so by the time you see and hear this podcast, we can officially say it is out now.

Dr. Moreno De Luca Yes.

Dr. Gwynette: So, definitely, check it out. We will include some of the music in this audio stream. So, Dr. Moreno De Luca, I cannot thank you enough for taking your time. I know you’re super busy, but I feel like this is going to have a huge impact, not only this song that you recorded, but also the accompanying manuscript that’s in process. Also, I hope that this podcast will reach many, many people, so that they can bring the world of autism to the masses.

Dr. Moreno De Luca Thank you so much, Dr. Gwynette, for this invitation I really enjoyed talking about this. I really appreciate having a space to talk about these very different things. It’s actually the first time that I put the two together. So, it’s been a pleasure talking with you about that today.

Dr. Gwynette: Yeah. Well, you and the music in autism is like peanut butter and chocolate, just a beautiful combination.

Dr. Moreno De Luca Thank you so much. You’re too kind.

Dr. Gwynette: Thank you. Let me give everybody the social media handles for Dr. Moreno De Luca. You can reach him on his official Twitter handle, which is at @dmoreno, M-O-R-E-N-O, deluca, D-E-L-U-C-A. That’s no spaces. D-M-O-R-E-N-O-D-E-L-U-C-A. So, look him up on Twitter. You can also find him on Instagram, which is @dani, D-A-N-I, .brunn, B-R-U-N-N. Please check out the autismnewsnetwork.com. You can follow me, Dr. Gwynette on Instagram and Twitter, which is @drgwynette, and we look forward to visiting with you in our next podcast. For now, have a great day.