Episode 237 — Sequence The WHOLE Genome
Guest: Dr. Richard Boles • Date: January 2, 2025
Episode Overview
This week, Dr. Richard Boles, a renowned expert in pediatrics and genetics, explains the critical role of whole genome sequencing in creating effective, personalized treatments for autism, ADHD, and epilepsy. He also shares insights on genetic diagnostics, targeted therapies, and the supplements he developed to support mitochondrial function and neurotransmission.
About Dr. Richard Boles
Dr. Boles is a Medical Geneticist with expertise in mitochondrial disease, other metabolic disorders, and channelopathies. He completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. Dr. Boles’ clinical and research focus has been on the genetics of common, chronic neurological and functional disorders, including autism, ADHD, ME/CFS, pain, and cyclic vomiting. He has about 100 peer-reviewed published papers. After 20 years as a geneticist at Children’s Hospital Los Angeles and faculty at USC, Dr. Boles was the Medical Director of a DNA sequencing laboratory for 6 years. He is currently in a virtual (Zoom) private practice, where he applies whole genome (DNA) sequencing to determine the cause of disease in his patients. Dr. Boles is also the Chief Medical & Scientific Officer of NeuroNeeds, a company that produces natural nutritional products to assist people with neurological conditions, including the conditions listed above.
You’ll Discover
How Whole Genome Sequencing Works (5:41)
Why Telehealth Can Be Better Than In-Person Visits (8:37)
The Importance of Mitochondrial Function (19:45)
Who You Want To Focus on Pathways (24:57)
Specific Supplement Options (27:43)
Why De Novo Mutations Are Incredibly Important Clues (34:25)
Referenced in This Episode
Full Transcript
Dr. Richard Boles | 00:00
The whole genome is really the whole 3 billion nucleotides, the DNA, every chromosome from end to end, including the mitochondrial DNA. Axone, which is what some places are ordering, are all of the genes, all 23,000 genes. But that's only 1% of the DNA. Genome is all 23,000 genes plus the other 99%. Of the DNA. The functional genomics tests that you're talking about, some of them do a few hundred nucleotides and some of them do a few thousand. But we're doing billions. We're looking at the whole thing.
Cass Arcuri | 00:31
Want to truly be the best parent you can be and help your child thrive after their autism diagnosis? This podcast is for all in parents like you who know more is possible for your child.
Len Arcuri | 00:42
- With each episode, we reveal a secret that empowers you to be the parent your child needs now, saving you time, energy, and money, and helping you focus on what truly matters most, your child.
Cass Arcuri | 00:53
- I'm Cass. - And I'm Len. - Welcome to Autism Parenting Secrets.
Len Arcuri | 01:09
Welcome to Autism Parenting Secrets. I'm Len, and with me is Dr. Richard Bowles. This conference has an incredible number of dynamite practitioners and influencers and leading thinkers sharing powerful perspectives with Parents who are attending this conference to find answers for their child and with Dr. Bowles, and he's going to share the unique ways and perspectives that he thinks would be super helpful for parents to understand, particularly earlier in the journey.
So welcome, Dr. Bowles.
Dr. Richard Boles | 01:39
Hello. Thank you for inviting me.
Len Arcuri | 01:41
Fantastic. Well, I've been to so many conferences.
You seem to always be presenting and a part of this. For the benefit of it. To the benefit of our listeners, if you could explain a little bit about your background, what kind of brought you to, in particular, serving kids especially who have these challenges.
So if you can explain a little bit of your background, I think that would be helpful.
Dr. Richard Boles | 02:02
Well, I went to medical school at UCLA, and I became a pediatrician and doing residency at a UCLA hospital. And I was always interested in genetics, so afterwards I studied After doing a year of general pediatrics, I went to Yale in Connecticut and learned genetics. I did a fellowship there. Then I was 20 years at Children's Hospital of Los Angeles and at University of Southern California. After that, things were going too slowly in the university, so I went to biotech. I was at Cordage and Life Sciences where I was the medical director, and then I when cordage unfolded because of not getting payment from insurance companies so then I had already started a private practice but I ramped it up there and so I've been in private practice for over 10 years now seeing patients half of the patients have neurodevelopmental disorders like autism ADHD epilepsy and the other half of functional disorders such as chronic fatigue syndrome unusual types of migraine irritable bowel etc I to try to treat the patients better. I'm a partner in NeuroNeeds, which is a company that makes supplements for all of these conditions that I mentioned.
Len Arcuri | 03:19
Okay, fantastic. And so with respect to genetics that you talked about, I think a lot of our listeners from hearing prior episodes, most parents are going to be familiar with, let's say, genetic counseling after their child's born. That might be something that's recommended, which will Kind of give them certain information.
And then recently, the whole idea of functional genomics and better understanding the blueprint, particularly what's happening with that child, that can be a useful thing to pursue. Specifically, how do you help empower parents with understanding their DNA in a powerful way?
Dr. Richard Boles | 03:55
Well, I mean, I have been a physician for over 30 years and I've been involved in four different biotech companies. So I have a unique experience in being able to put those two together. I order whole genome sequencing, which is very different than any of the ones you spoke about. Whole genome is really the whole three billion nucleotides, the DNA, every chromosome from end to end, including the mitochondrial DNA. Exome, which is what some places are ordering, are all of the genes, all 23,000 genes. But that's only 1% of the DNA. Genome is all 23,000 genes plus the other 99% of the DNA. The functional genomics tests that you're talking about, some of them do a few hundred nucleotides and some of them do a few thousands. We're doing billions. We're looking at the whole thing.
Len Arcuri | 04:40
Interesting. Yeah, because I think as you hear about genetics, there's a lot of different options out there, including something like 23andMe and Ancestry.com that are very affordable. A lot of issues with those companies with respect to data privacy, as an example, and they don't really give you very useful information.
Dr. Richard Boles | 04:56
They're toys. I enjoy those too. They give you information that is interesting, and I like that information, but it's a toy. It's not a very serious diagnostic test.
Len Arcuri | 05:07
Right. Although they'll present it in a way that, hey, this is serious information, but it's really just scratching, not even scratching the surface.
Dr. Richard Boles | 05:13
They did before the FDA came down on them. Yeah.
Len Arcuri | 05:16
So incredibly powerful what you're talking about with the entire DNA. And so talk a little bit about. What that information... First of all, how do you even... Create that and I'd be interested about the backstory of how you created the model that you have and then how does that ultimately translate to into for a parent what kind of insights are they going to get from that information.
Dr. Richard Boles | 05:41
Well part of the ability is now that we have these modern sequencers that can sequence all of the dna in an individual i usually say child because i'm a pediatrician but the child can be much older yes okay yeah plus both parents as we call a trio mother, father, and the patient.
Len Arcuri | 05:53
This all applies to any age yeah.
Dr. Richard Boles | 06:02
And we can do the entire genome in a trio. These machines can do it in 12 hours.
So it's a tremendous amount of sequencing, but then you get terabytes of information. You literally get billions of nucleotides in all three individuals. It's the computer models now that are getting much better at going through that DNA and then showing me the few hundred or so that the computer thinks might be an issue. I can't look at a billion nucleotides or 50,000 variants, but I do routinely look at somewhere between 200 and 1,000 variants in each patient I look at. That takes a long time.
I mean, even though then I'm pretty fast at it takes me several hours per patient. And then Variantix, which is a laboratory in the Boston area, I'm spelled like variant and then a YX, all one word. I don't have a conflict of interest with them, but I think they're the best lab anywhere. They give me access to the full genetic code on the back end of the computer system and all of their functionality. And to some extent, I helped drive that by telling them how to do that a little bit better and everything.
So I was one of the people that helped to kind of model that system. And that allows me to do what I do. But that requires a lot of phenotypic information. In other words, I really need to know that individual.
So when I first see the patient, the intake often can take two hours, and that's already have to be filled out all the paperwork, which is quite extensive. I mean, like an 18-page intake. Most people can do it pretty quickly because they can fill out the parts that are relevant. I go through the material that was handed to me over a Zoom call with the family and elaborate on it, the things I don't understand or that I want more information, and then put together a multiple page document is often you know 10 to 20 pages or so that really goes over everything that includes all the laboratory testing that's important that had been sent before so now I have a very good idea of the patient's issues what are most important to the family history what's been done before all of that so then we do the see I order this the sequencing test comes back I go in the back into the computer and I look at the whole thing And then I put it together in a report, which averages around 15 pages or so. Then we get on a Zoom call. And if the patient is in a jurisdiction in which I can practice medicine, okay? California, Arizona, Florida, Pennsylvania or New Jersey.
Len Arcuri | 08:33
Those are the.
Dr. Richard Boles | 08:35
States that I have a license in. And a lot of people will then travel to a nearby state that I have a license in or whatever. Then I can directly discuss the information with them, evaluate the child by Zoom, which I think is absolutely better than in a room because you can see them in the background talking to the parents while they're playing in their normal environment instead of dismantling the exam room. And screaming and wanting to be out, you can't get an exam. It's the traditional way of doing it. And I can ask questions. The family can ask questions, and it's more of a dynamic on that. And it's really like a general medicine appointment, except for the fact that we're doing it virtually. If it's in a jurisdiction which I can't practice to say that they're abroad, or they're in the middle of the country where I don't have a license or something, you know, then I can do a peer-to-peer model in which I'm working directly with the physician. Okay.
So they have a with.
Len Arcuri | 09:33
Practitioner they're working.
Dr. Richard Boles | 09:34
And then I'm my communication is directly with the practitioner. And then. That person is following up. But I can help that physician order the test, interpret the test, and learn how to treat based upon the results of the test. There's sort of an in-between option, a lot of people say. They say, I want my practitioner involved because he or she is going to be the one that's going to be following up. But I want to be there and ask questions. And so they use the peer-to-peer model in which I'm working with their doctor. But if the patient is in a jurisdiction, they could be on a Zoom call as well. Got it. And that's what I like the most, is when I can educate the physician to better treat the patient, and I can speak with the family and with the patient.
So that's the model that I prefer. But it really depends on how much people want to travel and economics. You have to think what you get from it.
Well, I mean, first of all, let me go with about the diagnosis. If you just get a typical test, I'm going to say a typical test. If you get like whole X from a whole genome, And it goes to the company and the company says what they think, which they're only looking at known mutations that cause disease or mutations that are very highly likely to cause disease in genes that are known to cause the problem the child has. Yes. Okay. You're likely to get a 20% chance.
So they'll find something. That's just because that's all that we have right now in the databases. And most of autism is new genes.
I mean, every time I get a new diagnosis, it's almost always in a different gene that I've seen before. And so you have to look at the rest of the DNA, not just what's already in the textbooks. But if I look at the back end of the computer and I do that, I can get it to 70% or higher in terms of diagnosis.
So, because what's the difference? What's the difference between 20 and 70%?
I mean, that's quite a lot. Absolutely.
Well, some of those are multifactorial and that there's not a cause, but there's multiple genetic factors. That are contributing to it. And many of those factors might be treatable. And so there's not a specific cause, but there's multiple factors.
Some of those are atypical in that the laboratory missed it because it's a known disorder, but the kid just didn't really show it. And so they didn't look there. But the most common wine are ones that are considered novel. Is that Yes, the variant is important, but it's in a gene of uncertain significance. Nobody has really reported many cases in that gene before in the literature.
So it's not considered to be a known autism gene. So it's overlooked by the laboratories. But on purpose, they're not doing research. That's investigative. That's the largest difference is I find it in new genes. But you can say, well, how do you know that it's that?
I mean, there's a lot of complexity. It has to be a very rare variant. It has to be a variant that doesn't happen in hundreds of other species. Because they have the same genes. And it has to be a variant that looks like from the computer programs that it likely changes the protein function. It has to be in a gene that's at least indirectly associated with autism. It has to meet all these criteria. And most importantly, most of the variants are de novo. Right. That means new in Latin.
Len Arcuri | 12:59
Which means they didn't get it from mom or dad.
Dr. Richard Boles | 13:01
That's why we need the trios, right? Because the computer looks at the entire sequence of the mom, the entire sequence of the dad, and says, what does this person have, the child, that neither of them have? Can both parents.
Len Arcuri | 13:11
You better explain the trio when you talk about that?
Dr. Richard Boles | 13:14
Okay. Okay, because we have the DNA of the mom, the whole code. We have the whole code of the dad, and we have the whole code of the child, the patient.
So the computer looks at billions of pieces of data And it says what's in the child that's not in the mother and not in the father. And then gives me a bunch of ones. Okay. I get on the average about 20 or so. Now one of those is probably the cause of the disease and the others are probably false positives, meaning that they're artifacts, they're not real. You could say, okay, well, 19 artifacts, that's a problem. There's billions of nucleotides. And there's hundreds of millions of nucleotides that are involved in protein coating.
So a one in a million error. It's going to cost 20 or so. The computer is extremely accurate. But again, I have access to the back end of the computer. I can look at those variants and I can, 99% of the time, I can tell which ones are real and which ones are not. Once in a while, it's like, I'm not sure on this one. But almost always, I can tell if it's real or not.
Len Arcuri | 14:12
Well, that's where everything that you are describing in terms of this process you have is combining the power of what's possible with computer technology and sequencing programs, but it still doesn't negate the need for... Human intervention to be able to then piece it together and ultimately figure out what's going to help a paramedic. What are the best moves to make? The computer can't do all that. And that's where you come in when you say you go into the back end, coupled with the lab, maybe some lab results and the detailed intakes you do. A computer can't piece it all together like a have.
Dr. Richard Boles | 14:49
Human can. Computers tend to hallucinate a bit. They don't intuition. They're really good at coming up with possibilities, but they're not that good at figuring out which one of the possibilities is the most likely. That's where the human comes in. My job is not going to be taken over by a computer anytime soon.
Len Arcuri | 15:05
Right. Being able to... See a patient to work with them whether it's virtually or in person and to get a lot of the data that's meaningful to be able to Correlate it to what you're getting from the program is that is the art of this, to know you've refined your process and Over a number of years.
Dr. Richard Boles | 15:20
Right? Yeah, there's a lot of art to it. Right.
I mean correct? Well, constantly. Every patient.
Yeah, I mean, it's... It's very complicated, but I did mention that I spend like two hours with the family.
Yeah. And go through a lot of records. Because I need every little nuance. Of that patient so that when I find a genetic variant, I can say, does it really look like this one fits or not? And sometimes it's really obvious that this is a variant that's like a de novo variant and it's in a known autism gene and it fits the patient completely.
And then we have the slam dunk. And there's other ones that really don't fit whatsoever. Thousands of them and they get shunted to the side. The computer gets rid of millions and I'll get rid of a few hundred.
And then there's these ones that are called the VUSAs, the Variants of Uncertain Significance. Those are what often confuse people, but they're really great opportunities because a lot of times I will find four of them that may or may not be related to the patient. And let's say that I'll mention that here they are and I'm not sure if they're related or not but two of those are treatable and they suggest that certain supplements might help. And I don't know if this will work or not, but I think that the supplement is something that we should try. It has very few side effects, so we go ahead and try it.
I mean, in general, that approach is effective quite often.
Len Arcuri | 16:48
Yeah.
Dr. Richard Boles | 16:49
So, I mean, if you find like seven of those or so in a patient, it's usually one or two of them will work. So that's often what it is. And that's not proof if the patient gets better because there was a variant of uncertain significance that you find in the patient, but your patient's better. The way that I look at it is that general medicine is saying, okay, you have autism. These are the hundred or so things that you can take. And it's really hard.
I mean, if you go to a conference like this, there's all these people offering all these different things. Well, there's a lot of things that aren't here.
Well, the drugs and things, right?
Len Arcuri | 17:20
Parents' heads are exploding with the overwhelm of options.
Dr. Richard Boles | 17:23
Right. There's hundreds of options. But when after I do the DNA, I usually drop to about 10. Okay, well, that's obnoxious. There's like 10 options or something. But there's 90 of them which are on the back burner. Those can always be tried later. But there's the 10 options the DNA suggests in that person is likely to be useful.
And then we go through the ones that are most likely to help and have the least side effects. And then we just go through those one at a time.
So you have 10 of them likely that you'll get some benefit. The thing is that the vast majority of patients do benefit.
I mean, part of that is the fact that we have the DNA code and we know what that child has versus just what some other people might have. But the other thing is just that These are not just random genes in random places. They're falling in specific pathways. Mitochondria or energy metabolism, that's one of the real big three or so that are treatable. Finding that constantly. Almost everyone with autism has mitochondrial dysfunction. And mitochondrial dysfunction is treatable with supplements. It makes a big difference and if I find a mutation in that then I know that patient's even more likely to be helped but in general Almost everyone with autism has mitochondrial dysfunctions, whether it's genetic links or not. The ones with genetic links are more likely to be helped, but even the other ones are as well. But that can give you some idea. Cation transport, another big word. Cation is positively charged salts, calcium, sodium, potassium.
So genes that make... Proteins that move cations from one place to another. They're really like open doors in my brain, so that allow cations to go through. Those are very important in autism. I find them constantly.
Like maybe 40% of kids with autism will find one of those genes that I think has a variant of uncertain significance. It looks like it might be related to the patient, but I can't prove it. And those are very treatable with supplements usually, sometimes medications. And which is.
Len Arcuri | 19:21
Where neuro needs comes in, right? Where supplements, the right supplement is the key sometimes for exactly what might be happening with that child.
So I'm guessing that's what birth neuro needs to be able, like if there was nothing in the market that did exactly what you were hoping to help the child with, that's where neuro needs and the formulas that you developed are meant to be able to address that. These issues that you're seeing from the analysis.
Dr. Richard Boles | 19:46
Well, I find that the other pathways, neurotransmission, and these three major pathways, there are a lot of supplements will help. Previously, I was recommending people go to a health food store. It was before the Internet. And go and buy like 30 different products. You start with five or ten, and then you work your way up. Because for the mitochondria, for cations, neurotransmission, everything, there's a lot of things that you need to do. And that was very difficult on parents and very expensive and difficult on the child to take all those things, plus just the logistics of keeping up with 30 products or something.
So we put everything together as much as we could into one product. We have Spectrum Needs, which is powder form. There's a berry or a lemon flavor, and that has 33 active ingredients and includes a very high-powered mitochondrial cocktail with like 20 different ingredients that help the mitochondria make more energy as well as to detoxify the mitochondria because when the mitochondria is working too hard, it produces a lot of pollution. Just like a car is working too hard, it's going to produce pollution. It's half-burned fuel. It's what it is. And so you need to remove that, the reactive oxygen species, acyl, carotene, organic acids, etc. Got it. And so there's energy needs, which is in a capsule form that I usually recommend to switch over about age 10 or so when the kids can swallow. And so that has 40 active ingredients, and it's more geared towards the adolescent and adult physiology. While the spectrum needs is more geared towards the child physiology, but you can entertain some of the people do.
So that's your basic mitochondrial cocktail. Coenzyme Q10 is extremely important. It is the main electron trans... Border on the electron transport chain. It's a great antioxidant, but it's very highly oil-soluble, not water-soluble. It does not mix with the powders. Either the powders the spectrum needs or the powders inside the capsules of energy needs. It needs to be in an oil, so we have an oil product. The vast majority of the coenzyme Q10 products that are sold over the counter are not bioavailable. They just go into the toilet. They're not going to go into your blood, and they're not going to go into the brain. Ubiquinol is more expensive. It's a Reduce Coen's on Q10, but it's five times more bioavailable. The right forms of ubiquinol.
So it's twice as expensive, so people don't want to buy it in stores. So it's not on the shelves, but it's five times more bioavailable, which means it's two and a half times cheaper to get the same blood.
Len Arcuri | 22:06
Level. Yeah, if you look at it that way. And that's what I take personally, and again, it's based on the information I've received on what's happened with my DNA.
So yeah, so you've given a lot of thought in terms of not only what goes in, but the form is really important.
Dr. Richard Boles | 22:19
Right, and they come in little gel capsules, because unfortunately... Coke Q doesn't taste very good. There's one other company that does make a liquid. You pick one off, but it's only one in the world. It's expensive. What a lot of my patients do is they'll take the gel capsules, they'll cut off the end, pour it into something, and then you have to flavor it. Straight cocoa is what I recommend. Dark chocolate, concentrated. Don't feel bad about the fact you're giving the kids chocolate. Chocolate has a lot of antioxidants, and it is actually really good for that. It's one of the blueberries, maybe higher, but cocoa is maybe the second highest of all the foods that we eat in terms of antioxidants. And if you put enough straight dark chocolate in there, you can mask anything. Another thing to mask it in is the omega-3s. People have been talking about omega-3s. Caveman got a lot of it. It's in the mildew. It's in the mold. It's in the dirt. It's in the algae. They didn't wash their fruits and vegetables. They got it all the time. Microorganisms make omega-3 fatty acids are critical for brain growth. Factory farming has almost zero. Almost all people in America are deficient. The only ones that are not deficient are those that are eating a lot of wild caught fish or other seafoods. Because it's in the microorganisms in the ocean as well, it goes up the food chain. But if you feed the fish corn, They're not going to get the omega-3s, so farm fish are not high in that. And of course, if you eat fish every day, it's expensive, and you're getting high levels of mercury.
So the omega-3s are very important, but the fish oils are triglyceride-bound. They do not go across the blood-brain barrier. They need to be converted to a... Phospholipid form that can cross over.
Well, the liver converts a little bit, but people take huge amounts of fish oil hoping that the brain will be better. Liver only converts a little bit. It's going to be stuck. You get a whole bunch of fish oil and only convert a little bit. Krill oil is phosphatidylcholine bound, so phospholipid. It goes directly into the brain. It brings phosphatidylcholine and choline into the brain, which are very important.
So I had my child was on a fish oil product because high-gloss fish oil is great for the heart and the rest of the body, plus a krill oil product. And he wasn't getting phosphatidylserine in that. I was thinking of adding that when I was talking to my partner.
So let's just mix them all together. So we have omega needs, which is high-dose fish oil plus krill oil plus phosphatidylserine derived from sunflower seed. But it's an oil form, doesn't mix with the powder, so it's a separate gel capsule. Again, if you can swallow it, that's great. Otherwise, you can cut. Okay.
Len Arcuri | 24:52
So Dr. Boles, is this for everybody or is this for what a specific person needs?
Dr. Richard Boles | 24:58
Well, these were selected to hit the major pathways that I have found and that other people have found in sequencing many thousands of people with autism. Particularly, it hit the three major treatable pathways. Mitochondria slash energy metabolism, number one. Cation or salt, transport, number two. And neurotransmission, neurotransmitters, number three.
So there are 33 or 40 active ingredients, plus you add all the omegas in there and then the CoQ to address those major pathways. So when I first see a patient, I start them on what's called a brain bundle. Either energy needs or spectrum needs for the mitochondrial cocktail, depending on if you can swallow or not, plus coenzyme Q10. And I have a product Q needs that's a ubiquinone in lemoline oil, which is lemon peel oil, plus the omega-3, which is your fish, krill, and sunflower seed.
So the brain bundle is all of that. So I usually start a patient on that because it often will help a lot But it's not going to hurt them. Side effects are rare and they're very mild and they're reversible if you stop it. If you start low, go slow, take it with a meal, it's unlikely you'll have problems.
So the two things that you can see are nausea and you're just kind of your brain's over energized. Start low, go slow, take it with a meal.
Some people don't go to full dosing. And so that will usually solve that problem. There's really no significant side effects from it.
So Then I get some benefit while we're waiting a few months to order, go for the insurance company, have the entire sequence done. The machine costs a million dollars. It does the sequencing plus my interpretation, which takes a long time.
And then I have some data as to what worked. And then when I have the DNA, then we can start to say, okay, this is the platform on which we were building. Now we're going to build on top of it. And that might include many different things. It might include more magnesium or zinc. It might include more B vitamins. It may include certain medications. It may include other supplements, other antioxidants. Really, there's thousands of genes that are involved in autism. And there's thousands of different ways that a kid can have autism. But there's really only about 10 pathways or so. Okay. And I mean, so I address the major treatable pathways, but then when I get the DNA, it'll often push me into another pathway as well, and I'll have to treat that. And there are other pathways.
I mean, inflammation, methylation, there are other treatable pathways. Plus, there's many untreatable pathways.
Len Arcuri | 27:30
We just don't know enough.
Dr. Richard Boles | 27:32
Yeah, we don't know enough about treating them. Our pathways are partially treatable.
Len Arcuri | 27:36
Yeah, so as long as we're talking about products, are there any other products that you in particular feel like would be interesting for parents to have on their radar?
Dr. Richard Boles | 27:44
Well, the brain bundle is the main thing. That's the spectra needs or the energy needs plus the CoQ needs plus the omega needs. But there are some other things to consider. If there is a significant amount of anxiety... One of the things that you can do about that is to increase the inhibitory neurotransmitters, particularly GABA. And so I have a product called Calm Needs that a lot of my patients will take in the morning for school anxiety, test anxiety, social anxiety. And that can be very helpful in that sort of a situation. And that includes a lot of things to help inhibitory neurotransmitters. We have a product called Active Needs, and the product is for you, for the parent. I take it myself. It allows me to literally make me feel 20 years younger. Okay. And its energy needs all 40 ingredients for the mitochondria plus 15 more. It includes arginine and citrulline to open up the blood vessels, help blood flow throughout the body.
And then there are herbs that have been used in ancient Chinese and Indian medicine for thousands of years for people to feel younger and to have more cognition and have more alertness, have better exercise ability and to... And for aging. And I put some of the new things like resveratrol and nicotinamide riboside and some of the other herbs that have been shown to slow down the aging process. What is the name again? Active needs.
So active without the E. So A-C-T-I-V.
Len Arcuri | 29:11
Needs. So particularly, I know this whole focus is usually on the child and things to do for the child. But again, the parent is so key.
So anything that can help a parent get to a calmer and more regulated state to make better decisions is a useful.
Dr. Richard Boles | 29:27
Thing. Yeah, you have to help yourself to help your child. Yep.
Yeah. I mean, without you, your child is not going to do so well. And the active needs is something that can help you get there.
Len Arcuri | 29:37
So Dr. Bowles, talk to me a little bit about in terms of The resistance of people going even down this road, because I know sometimes people don't want to do testing because they're worried about what might be found. And particularly if it's genetic, they think, okay, there's not much to do.
So why even bother going down this road of learning something that maybe I can't do anything about? I know a lot of parents don't want to do this because they think, if I do this, It's going to be a whole bunch of supplements I have to take, and I'm just not wanting to go down that road. There's just reluctance that the cost associated with it will exceed the benefits they get.
So what do you say to people who have those kind of.
Dr. Richard Boles | 30:18
Reservations? Well, those are very common reservations, and they don't turn out to be true, but a lot of people think that they are. First of all is that finding the genetic evidence predisposition. Does not rule out environmental influences. Environment turns on and off genes. Regardless of how much genetic autism is, and it's highly genetic, the triggers are environment. And those are something that we can do about. Finding the genetic causes helps us to understand what treatments might be helpful and which treatments will probably be less helpful. They can help us to know what treatments might be harmful. That might make things worse. The point of doing the genetics is not to find it and say you can't do anything. The point is to find something that you can do something about.
So I encourage you, if that's what your question is that... If it's genetic, it may be treatable. In fact, knowing the genetics is the first step to really understanding how to treat a disorder that's as highly genetic as autism. And you may have a completely negative family history, but it could be a new mutation that occurred that wasn't in any relative.
So it's not other people say, well, it didn't come from me. It must have been the environment. But it can be a new mutation. And again, it doesn't rule out the environment.
I mean, the environment turns the genes on and turns them off. And if you know what genes are affected, then you might understand better what environmental problems can be causing trouble, what sort of things can be causing regressions. If you know the gene, I can give you a better idea as to what to avoid.
Len Arcuri | 31:54
Whether it's chemicals, EMS, whatever the case may be, there's a lot of toxins that are overwhelming for parents to figure out what to focus on. So based on the analysis you provide, you can point them to the toxins to be more wary of. I.
Dr. Richard Boles | 32:11
Mean, if that's what it is in that patient. Yeah.
I mean, sometimes I can point to the certain environmental things to avoid. And it could be certain toxins, or it could be certain medications, or it could be fasting, not eating. There's many things it could be. The other thing is people are afraid of bad news. All right, they're afraid that I'm going to find that they're going to die of cancer in a year or something like that. That's just not the way genetics works. Bad news can occur. What I mean by bad news is something that's significant, likely to occur, and you didn't know about. When the last study that I published on 50 kids with autism, one of them really got bad news. One of them got a mutation in a cancer gene which increases the risk severely of colon cancer. The grandfather died of colon cancer. It's not something they didn't know about. They knew that, you know, but a fairly young age, the grandfather.
So they all need colonoscopies at a much earlier age. This may save someone's life. They didn't want to hear it, but they were very glad to hear it since it's there.
So, you know, it's not like you're going to get all this bad news. People are always worried, particularly the doctors and insurance companies are worried, you do hold genome, you're going to be sending to 14 different specialists and you're going to get 20,000 different tests. Naturally, it's very few testing. Holgenin is often the last test because that will give you the answer. In regards to referrals to other ones, of the 50 patients, nine of them were referred because of their genetics. Eight of them to immunology. Half of them because I found a mutation in the gene that involves the immune system. And I wanted them to work it out and to treat it. And half of them because I found nothing at all. At anything and i wanted and i said well maybe it's immunological it's the first coughs And they tended to be more PANS-PANDAS ones, too. The PANS-PANDAS patients definitely can have de novo mutations and definitely can have modifying mutations that I can find. But there is a slightly increased chance that I won't find anything. But still, I mean, I find a genetic... Contributor of disease about 85% of the time yourself. And I mean, with Pans Pandas, maybe down to 70% or something.
Yeah, it increases the risk, but it's still, it's worth doing. When I do the DNA, when I do the whole genome, About 50% of the time I'll find a de novo variant. And that is the main cause of autism in that patient. I'll occasionally find another de novo variant that I'm not sure of, but about 50% of the time I have a de novo that appears to be, that's very likely to be the main cause of autism.
Len Arcuri | 34:45
And just to pause you there, so what you're saying is that even though a child is getting, you know, from both mom and dad, their genetic makeup. It's these de novo mutations that they're not getting from the mom or the dad that seem to be not the cause or at least a major contributor to what's happening with that child. Is that accurate?
Dr. Richard Boles | 35:05
Yes, it's genetic, but it's not inherited. Yes, okay, got it. If the child were to reproduce, it could be inherited, but yeah, it wasn't inherited from the It's a new genetic mutation. Yep. But there's a lot of what I think are modifying mutations. They are variants from either parent. Often there's a lot of them from mom and a lot of them from dad that may or may not be causing minor symptoms in them. Maybe a little bit of Asperger-like or ADHD-like or maybe some pain or fatigue or GI problems or maybe nothing at all that in certain combinations are inherited to the child which contribute to the disease.
So in most people with autism, what they'll find is they'll find a de novo variant, particularly in the more severe cases. And that is the one that has the major impact on the brain.
And then the multiple inherited variants that modify that and push it in the direction of autism. Any one of those is a potential target for therapy.
Sometimes the de novo is in a pathway that I can't treat, such as cell division. But one or more of the potential modifier variants are in pathways that are highly treatable. And some of the best treatment outcomes I've had have been involved in modifying genes. Interesting.
So that there's many different, it's not just one shot at it. This is what it is.
Len Arcuri | 36:27
Right. And I think that's where, in terms of approaches you could take with understanding your genome, the worst thing to do is just to get some information and just start treating them randomly, like treating SNPs or mutations that pop up. It's much more of an art knowing what to look at, what's significant, what's not, and the interplay between all the genes, right?
The recommendations that you would make, so it's not about just seeing a SNP and treating it.
Dr. Richard Boles | 37:00
Correct? Well, the SNPs can be modifying variants, but that gives you one piece of information. But if I find one piece of information, I think, this is the main cause. I don't stop there. I do the whole thing. Because I might find in the 99th percentile of the stuff I'm looking at something that's highly treatable. That's often the cause. As I keep looking, I'll find more and more potentially treatable targets.
I mean, having the diagnosis and knowing what may or may not happen, which we can often get, is helpful to a lot of people. What most people want in this is they want a treatment. They want something that will help their child. And that's what the main focus of my work is defining in the genetics something that can help their child.
Len Arcuri | 37:44
Fantastic. And so if listeners are wanting to better explore this, what are our next steps? How do they find you? And you already talked about the states where you can work directly with.
Dr. Richard Boles | 37:55
Parents. But I can work with people anywhere in the world if I work with parents. A physician who's licensed in that area.
So if I'm going to be the direct physician, they have to be under the 30th birthday when I first see them. But last month I saw someone who was the day before the 30th birthday. And they have to be in a state in which I'm licensed or they have to travel to one of those states in which when I talk to them. It doesn't matter where I am. It doesn't matter where the family is. It's where the patient is. That's where telemedicine occurs. I don't make the laws that just stay out of jail. Okay.
So it's difficult now that the pandemic is ending that beforehand you could be anywhere and I could do it. And that's kind of a dip.
Len Arcuri | 38:33
Okay. So those have been relaxed now.
Yeah. Now.
Dr. Richard Boles | 38:36
It's back to individual state licensures. Okay.
So you would just contact me, DrBowles at MolecularMito.com. I assume that you'll have a link on there.
Yeah.
Len Arcuri | 38:46
We'll include everything in the show notes. But otherwise, yeah, no, take this in. And again, if you're working with a practitioner that you are feeling great about, then again, if you're not... In a state where Dr. Bowles can work directly with you. You can work through your practitioner. And, yeah, so thanks for providing the information of where they could go. And NeuroNeeds, I guess if they wanted to take a look at the possible options from a supplement perspective, NeuroNeeds.com, I assume.
Dr. Richard Boles | 39:14
That's right, exactly.
Len Arcuri | 39:15
Yeah, so, again, it will all be in the show notes. And I'm really excited to be able to have this conversation, to share this information with everyone. Thank you so much, Dr.
Dr. Richard Boles | 39:23
Bowles, for joining me. Thank you for inviting me.
Len Arcuri | 39:26
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