#164 Parkinson’s Disease with the Parkinson’s Foundation
This week our host, Kira Dineen, is joined by Dr. James Beck and Dr. Ignacio Mata to discuss Parkinson’s Disease and diversity in genetic Parkinson’s research.
Dr. James Beck is the Senior Vice President and Chief Scientific Officer at The Parkinson's Foundation. In his role, Dr. Beck sets the strategic direction for the Parkinson’s Foundation research vision, and oversees a portfolio which has guided more than $360 million in research to explore what causes Parkinson’s disease (PD) and how to improve treatments, and he has played an integral role in positioning the organization as a world’s leader in accelerating Parkinson’s research. He is currently an Adjunct Associate Professor in the Department of Neuroscience and Physiology at the New York University School of Medicine. He holds a BS from Duke University and a PhD from the University of Washington, Seattle.
Dr. Ignacio Mata is a member of the Parkinson’s Foundation Hispanic Parkinson's Advisory Council, which develops strategies to increase clinical research education, awareness and participation among Hispanic people with Parkinson’s throughout the United States. He is also an Assistant Professor of Molecular Medicine at the Cleveland Clinic Lerner College of Medicine. He received his BSc and PhD degrees from the University of Oviedo, Spain. His current research focuses on the identification of genetic risk factors for several quantitative traits involved in cognitive impairment in PD and the identification of novel genes causing familial forms of PD.
Did you know genetic changes account for an estimated 5-10% of all Parkinson’s disease? And these genetic changes can be passed down to family members. That's why Picture Genetics offers Picture PD Aware, an at-home DNA test for Parkinson’s disease risk.
Powered by clinical laboratory Fulgent Genetics, Picture PD Aware is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling.To order your Picture PD Aware kit use code “DNATODAY”for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow.
On This Episode We Discuss:
How Parkinson’s Disease (PD) affects the body
Genes that play a role in the development of PD
Genetic testing for family members of patients with PD
The PD GENEration project and how it is helping people with PD
Underrepresentation of Hispanic people in PD genetic research
How to achieve more inclusivity with research in the PD space
Learn more through the “Substantial Matters: Life and Science of Parkinson’s” podcast. Here is a list of episodes specifically about the PD GENEration study we have been discussing.
Check out more about the PD GENEration on the Parkinson’s Foundations website, including how to enroll in the study. If you have questions about enrollment send them to genetics@parkinson.org.
PD GENEration también ofrece pruebas genéticas y asesoramiento en Español. Para más información visite http://parkinson.org/pdgene
To stay up to date on the latest PD news and research follow The Parkinson’s Foundation on Twitter, Facebook, LinkedIn, and Instagram. And be sure to check out Dr. Beck’, and Dr. Mata on Twitter!
Unfortunately, there is an underrepresentation of people of Non-European descent in genetic studies. We’ve explored this in multiple episodes of DNA Today. Allelica is also very aware of this issue and how polygenic risk scores developed for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, Allelica developed new models to improve predictive power in Non-European people. Allelica validated their polygenic risk scores in Non-Europeans population to provide ancestry specific genetic risk assessment. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics.
Stay tuned for the next new episode of DNA Today on December 17, 2021 where we’ll be discussing sequencing to assess inherited cancer risk! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.
Do you have patients with Primary Mitochondrial Myopathy? There is a new clinical study looking for people with PMM to enroll. People with Primary Mitochondrial Myopathy can experience muscle weakness or exercise intolerance. This study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for Primary Mitochondrial Myopathy and how your patients can participate by going to pmmstudy.com.
Transcript
Please note that this transcript was automatically generated and may not be
[Intro Music] How is it that we find ourselves surrounded by such elegance, such complexity? The genes of you and me, they're all made of DNA. We're all made of the same DNA…
Hello, you're listening to DNA Today, a genetics podcast radio show. I'm your host, Kira Dineen. I'm a certified genetic counselor practicing in the prenatal space. On the show, we explore genetic topics and their impact on our health through conversations with leaders in genetics. These are experts like fellow genetic counselors, researchers, doctors and patient advocates. In this episode, we are exploring Parkinson's disease. I'm joined by Dr. James Beck, chief scientific officer at Parkinson's Foundation, and Dr. Ignatio Mata, member of the Parkinson's Foundation Hispanic Parkinson's Advisory Council, and an assistant professor of molecular medicine at the Cleveland Clinic Lerner College of Medicine. So thank you both so much for coming on the show and diving into Parkinson's disease with me. Pleasure to be here. Thanks. Thank you. Did you know genetic changes account for an estimated 5% to 10% of all Parkinson's disease? And these genetic changes can be passed down to family members? That's why Picture Genetics offers Picture PD aware an at home DNA test for Parkinson's disease risk powered by Clinical Laboratory full Genetics picture pPDd aware is easy to order and understand with Hasslefree, clinician involvement and good looking reports. Plus, you're fully supported through live chats, emails and genetic counseling. To order your Picture Pd aware kit, use Code DNA today for 25% off and free shipping. Get Actionable Genetic Insights today to benefit your family of tomorrow. Did you know you can get actionable results from polygenic risk Scores Polygenic risk scores allow health care providers to more effectively help patients lower their risk of life threatening common diseases. However, since this is a new application, it's easy for healthcare providers to misuse and misinterpret polygenic risk scores. That's where Alilca is key. Allelika has developed polygenic risk scores that provide risk for conditions based on established guidelines. Their software allows healthcare providers to simply upload genotype data and receive a clinical grade polygenic risk score report. Alilica makes it clear that the percentile of a polygenic risk score is useless. Rather, it's the relative or absolute risk that matters. Alilaka assesses the absolute risk and provides a lifetime or a ten year risk depending on the guideline of each disease. This leads to easier interpretation for health care providers and better care for patients. Learn more in our upcoming episode with Alilica in January. But if you can't wait to find out more head over to Alilica. Com Alilca empowering the next generation of clinical genomics. Do you have patients with primary mitochondrial myopathy? There's a new clinical study looking for people with PMM to enroll people with primary mitochondrial myopathy can experience muscle weakness or exercise intolerance this study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for primary mitochondrial myopathy and how your patients can participate by going to pmmstudy.com. The link is also available in the show notes and at dnapodcast. Com. So I thought we could begin the conversation, talking about how Parkinson's disease affects the body just to lay the foundation. So that then we can talk about all the genetics that we know of so far for Parkinson's disease. Doctor Beck, do you want to start out with just explaining how Parkinson's disease affects the body? Yeah. Absolutely. So for most people, Parkinson's disease will appear as difficulty in movement. Parkinson's disease is a neurologic disease. It's a progressive, degenerative disease of the brain, primarily affecting movement. So as I said, people may have some difficulty walking. They'll experience some stiffness. Interestingly, a lot of people present because they have sore shoulders again because of muscle stiffness and will complain of that as part of that process. But the people with PD experience it's called Brady Kinesia slowness of movement. They will have sometimes a tremor in one hand as it presents. And this is a slow moving tremor that disappears when they move their hand. They may have some trouble with balance and posture and some other issues with the stiffness rigidity that may accompany it. But most people who develop Parkinson's are in their mid 60s, maybe a little later for that. But as we'll discuss today, there's some individuals who have genetic forms of Parkinson's disease, which is relatively rare cause of the disease, who maybe even younger than 40, develop Parkinson's disease. But by and large, people with PD develop the disease for reasons we don't know. And that's part of the efforts behind PD generation and certainly behind Dr. Mata's work to really understand the full genetic scope of what is behind Parkinson's disease. So let's dive into that. What do we know right now, Doctor Monta, about the genes that do play a role in Parkinson's disease. Is there a list so far of what we've identified? Yeah. I think it's a growing list, so it never stops. Every time I go give talks, I always have to keep updating the table, which is good. Right. I would say that the genetic cost of Parkinson's is relatively new. I would say maybe 20 years or so. It was first believed to be mostly environmental. And then I think studying some of the original families with like Jim said with maybe a little bit earlier on set, which might suggest I have some genetic predisposition. Some of those families led to the researchers identifying the first gene was sinucleanuclin gene. Then came parking, and this was in 90 97, as I said over 20 years ago. And then now we're up to maybe 23, 24 genes that cost familial forms. Right. So that's one of the things, as Jim mentioned, from the clinical aspect, Parkinson's is very complex. And from the genetics, we see this complexity as well, with many genes and different pathways being affected. But on top of that, there's a lot of genetic risk factors. So the last study that came out a couple of years ago identify at least 78 genes that are also associated with risk, so they don't cause the disease, but increase somebody's risk to develop the disease as well. So, again, there's a lot of players in the game, and that's an important distinction to make of we found a genetic change in someone that has Parkinson's disease that we say this caused Parkinson's disease, whereas there's others that you're mentioning more. And you think you said 78, something like that genes that we say, well, these could play a role in the development of Parkinson's disease. And I think that concept in genetics, sometimes people don't quite grasp right away that there is a difference with that. So if we're looking at genetic testing panels, how many of those genes are on the panels? Is it more in the 20s that you were saying of the genes that cause the condition versus those risk level genes? What are the panels look like that are available for people starting with people that have Parkinson's disease that are looking to see, is there genetic cause that we can identify? That's a great question. And we just had a paper accepted about this, taking a look at panels very excited Parkinsonism and related disorders, so hopefully be coming out soon. Collaboration as part of our efforts with Clinchen NIH Clinical genetics effort, there are panels with just a handful of jeans to dozens of jeans on there. They're called, quote, unquote Parkinson's panels. And one of the issues is that there's just a plethora of genes which often don't really hit on Parkinson's disease directly. So they're often used as maybe differential diagnosis or just a bunch of other genes which can be associated with moving disorders as a whole. And so what we've seen is that the key genes that need to be on the panel are ones that are probably the most common. As not just said, there's at least two dozen familial forms. There's dozens of risk factor genes that are there. So what we've done is take a look at the breadth of genes that associated with Parkinson's disease and narrowed the list down to seven genes. For right now, we could grow as the science changes. But seven genes, which are probably the most common genetic forms of Parkinson's disease. Those are the GB, glucose, lurk, two Sonuclean VPs, 35, Pink and Parkin DJ one or park seven. I guess it's going to be called now I'm speaking a little out of turn because my background is bench science. It's not a gene Jock like Nacho is, but these are the jeans. I think I counted all seven. These are the genes that really are probably the most common of what are rare forms of Parkinson's disease and ones that are also the ones that are actionable today. So something we didn't discuss is, what does it mean if you have a genetic form of Parkinson's disease, how does that affect your treatment right now? It doesn't. But we're on the cusp, and certainly Nachos work is there to help drive us forward where that can change. And so because it doesn't influence genetic genetic testing doesn't influence care. The panels are really kind of incomplete, for instance. And I'm going on a little bit too much. But the GBA gene is one that's very difficult to sequence. And so you will find that often just by itself and won't be on the other panels. But when we look at our testing of our PD generation study, we find that about half the people who've come through with a genetic link to Parkinson's disease have a variant in GBA, a pathologic variant. So it's really important to have panels that are complete panels that are not just hotspot testing. I'm sure your prior guess talked about genotyping versus genome sequencing. We offer genome sequencing through our panel and trying to really get a firmer grasp of what are the variants there in the genes? And are they pathogenic or not? Yeah. I think that's important to look at. Okay. If I'm getting a panel of jeans, what are those genes included? And is this expansive enough? And you brought up a good point of if someone has Parkinson's disease, we're not necessarily finding oh, this is the genetic cause. Every time. Dr. Mata, how often do we find in a patient that has Parkinson's disease that has that clinical diagnosis? Oh, here's the genetic cause for it. Like, what percent of cases would you say? I should probably mention that about 20% to 25% of individuals with Parkinson's will say that they have another family member affected, so they're familiar cases. But out of those about probably close to 10% within that they're truly genetic forms of Parkinson's disease. So if you just take a whole cohort, for example, this is one of the things that PD generation is really helping to understand is you're offering this to anybody that wants to get genetic testing, not based on family history or your age of one set or anything. Anybody can go get tested. And we're seeing that the percentage is a little bit higher than we thought. I think it's close to 16% right now. Right, Jim? So 16% of all individuals are participating in PD generation. At the moment, we've been able to identify a variant that is pathogenic, and that doesn't include, obviously variants of non significance, which there's a few of them in there or other things that we're not really sure. So it's probably an underestimate. It's probably even more. But I would say in general, it will be close to 16% to 20%, maybe. Yeah. And so these are individuals that may not have Parkinson's disease themselves that you're talking about doing the testing, that it's just people that may have the family history. Am I getting that right? No. To be able to participate in PV generation, you have to have a diagnosis of Parkinson's disease. What I'm saying is that they don't have to have family history. So usually when you do this through research, or if the clinician that is asking for one of their patients to have genetic testing, they usually will select. Right. So they'll select those individuals that they think that they have a higher risk to have a genetic form, which is usually derived by family history, or if you have very early age of answers. So those are usually two things that if a clinician see a patient like this will say, we should get genetic testing and see what happens. The Pdjm, what is doing is that anybody can come if they have the disease. So we're having a better view of what the percentage is that individuals that might have a genetic cause of the disease because before we couldn't really tell. Yes, I think that's a really good point Nacho brings up. So we have really limited inclusion criteria for this effort. I mean, you have to have a diagnosis of Parkinson's. You generally have to be above the age of 18, and that's about it. People who have cognitive issues, we have ways of working around that. But the basic finding here is that anyone can go get the genetic testing to see whether they have a genetic link for their Parkinson's disease. And when you talk to the clinicians who used to, because genetic testing has been prohibitively expensive, it's not covered by insurance. That's a key thing to mention, for at least for Parkinson's disease, because of their age and inability to influence care. Insurance companies don't pay for it. And you can appreciate this, too. Kiera, is that Medicare doesn't cover genetic counseling because older people need it. No, not yet. So the foundation is working to help advocate to get that changed, because it's so important to have the counseling, not just the results, because it's been a long time since people had biology in high school. And biology in high school is probably a lot different back then than it is now. So they may not really appreciate the totality of the results. But when I talk to clinicians, they're saying the people who they think, oh, I'm sure they have got a genetic form of Parkinson's. They come back negative. And they're surprised by the people who do have a genetic form of Parkinson's disease. And so as a result, we've talked about the seven genes that PD gene. As you go down the panel, they get exceedingly rare. But we found somebody who has a mutation in each of those genes. There's a representative for each of those genes. In fact, one of the rarest forms we thought was going to be someone with an Alphas nuclear duplication identified eight individuals who have that. So that's when you have three copies of the gene versus just two. And it's just remarkable what's out there. So this isn't a true epidemiology study where we randomly sample people. But I think with large numbers, we can really get a true sense as not just set of what is genetics and Parkinson's, and what conditions are not conditions, what genes are coming up more than we expected, as you were talking about, of those eight patients that had it in a rare gene that causes Parkinson's disease. So people that might be listening to say, okay, I have Parkinson's disease. I have a family member, a loved one. Okay, let me get them tested. What's going to be the cost associated with the test for them? I know. We talked about insurance coverage being an issue. So they were doing through you guys through the PD Generation study. Yeah. So I guess if they did it privately, it could be expensive. But through the P generation study, we cover the cost of the test. And so the test itself is free as part of that. And genetic counseling is covered as well. So it's important that we make this available. And I know that you've had guests from fully intelligent in the past, and we work very closely with that company to develop our panel and to ensure that the reports that come back are easily understood by both clinicians patients and helpful for genetic counselors as well, so that they can really make heads or tails of what the results are. Yeah, the reports are certainly very easy to read from. Full Genetics Picture Genetics kind of. They go by both names. Curious about your own genetic risk for Parkinson's disease. Picture Genetics newest DNA testing kit, Picture Pdaware is designed for you. There's A-4-9 higher risk of developing the disease if you have a family history of it. So Picture PD aware is for anyone who wants to access their genetic risk for developing Parkinson's disease to be the most prepared for your future. Backed by Pictures Parent Lab Full Gent Genetics Picture Pdaware provides clinical reports with genetic counseling support, so you're fully supported and educated about what the results mean for you and your family. Plus 50% of all proceeds from the Bdaware tests go to the Parkinson's Foundation, a nonprofit organization committed to making life better for people with Parkinson's disease. Visit picturegenetics. Com and use Code DNA today for 25% off and free shipping. Again, that's picturegenetics. Com with Code DNA today for your Picture Pdaware kit, get actual genetic insights today to benefit your family of tomorrow. Unfortunately, there is an underrepresentation of people of nonEuropean descent in genetic studies. We've explored this in multiple episodes of DNA today. Aleca is also very aware of this issue and how polygenic risk scores develop for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, alleluka developed new models to improve predictive power in nonEuropean people. Alila validated their polygenic risk scores in nonEuropean populations to provide ancestry specific genetic risk assessment. Interested in learning more, visit alilaka. Com alilca empowering the next generation of clinical genomics. If you have patients with primary mitochondrialmyopathy, please let them know about a new clinical study looking for participants. Primary mitochondrialmyopathy leads to debilitating symptoms of muscle weakness and fatigue, which means there is an urgent need to find an effective treatment. That's why the study was started. It's a new clinical study to test the efficacy and safety of a drug for people with PMM. During the study, participants will be administered daily medication. The objective of the study is to see if people can walk further and complete other exercise tests better. After 24 weeks of treatment, you can connect with a patient advocate MPMM today to learn more about the study, including how your patients can participate. Also, stay tuned for a full episode of DNA today about mitochondrial disorders, including this study on February 4. To learn more about the study, you can visit pmmstudy.com. This link is also available in the show notes and at Dnapodcast. Com. You can also learn more about other clinical studies for genetic disorders through no rare com. There are studies for sickle cell achondroplasia cystic fibrosis, and more. Again, that's no rare com for people that are doing this testing. We have found that the risk for someone to develop Parkinson's disease can differ based on their ethnicity, focusing on the Hispanic ethnicity. Dr. Matcha, I'd love to hear more from your perspective in terms of what is the risk for someone to develop Parkinson's disease if they have Hispanic ethnicities, how does this compare to other ethnicities? Well, we should start by saying that everything that we've talked so far in terms of percentages and mutations and the genes that are affecting parking space, all this comes from mostly European or studies in European individuals or European ancestry, as you say. So usually mostly coming from Europe or the US. So there's very little that we know about any other population. I think populations in Asia are catching up. So there are more and more studies coming out of Asia, but in the US, there are two big populations, both African Americans and Latinos, where we really don't know much about the genetics, not only in Parkinson's disease, but in most diseases, they are very underrepresented. So that's a problem. Obviously, I've been studying the genetic Parkinson's disease in Latinos for a while, and everybody asks me, do they have a high risk? And unfortunately, that's something that we are not sure because there's not that many epidemiological studies that have been done in places without biases, that we can get really a good idea. There are a couple of studies that were done using Medicare and Medicaid data here in the United States, and we see that at least the risk is probably as high, if no higher than European populations for Hispanics. One of the things that we need to consider as well. And I know that the podcast is about genetics, but environment plays a huge role in Parkinson. This is exposure to pesticides is one of the main drivers of that Association, and Latinos and Hispanics here in the US have a high percentage of jobs that are related or they have a high exposure to pesticides. So part of it could be due to that. That's what I was saying, that a lot of the studies have some biases. You would need to do something in Latin America where people have different jobs and you can really see the results, but I think they have as high risk. But one of the interesting things that we're seeing is that a lot of the genetic variants that we're seeing in European populations are not present, especially in those countries where the European ancestry is lower. So if you look at Peru, Bolivia, Honduras, some of the countries where there's a lot more Amerindian, we don't see the typical two mutations. Gba is present. That's one of the ones that is in L populations, but some of the other ones are not. So one of the things that we're trying to identify using PD generation is to see what happens in other populations, and we have a big effort to try to recruit or offer this to individuals that are from underrepresented and minority populations to make sure that they are represented in this study, and that we know exactly what genes are important, what variants we find in them because they might be different as well. So I think this work is really very important that needs to be done because in terms of not only the panels, but also if we're talking about precision medicine and trying to use this information, we want to make sure that this is good for all populations and not only for white European individuals. So I think it's very important to discuss this. Yeah. Very well said. Yeah. Go ahead, Dr. I was just going to add exactly when we talk about precision medicine, we don't want to leave anyone behind as a result of it, perhaps behind the way you think about it, because as a company looks to go for approval for therapy, which targets a genetic form of Parkinson's disease, they're going to have to list variants that this might be relevant for, because as part of their package, and if that gets left off from a population that's already underrepresented the insurance, might not even cover medication for these individuals because they don't have the right mutation when in fact, it just wasn't represented well enough for the drug companies to include in their package the FDA, which is why we work with Nacho and a bunch of other really talented geneticists and folks who are focused on the genetics of Parkinson's disease. I mentioned this ClinGen panel to provide authoritative review of genes relevant to Parkinson's disease and importantly, variants from those genes, which associated with Parkinson's disease. And this data coming in from PD generation data from Nachos large PD study data from all over the world is utilized to help Judicate the relevance of variants so that the world can know. And it goes right to FDA, which is important so that it can back up anything. A company which might hopefully have a therapeutic to help people with Parkinson's, especially with a genetic form of PD, can take advantage of. It's really important to close that gap now, because, as you're saying, all the downstream effects of if we're leaving out that we're finding out, oh, these certain genes or certain variants in genes are more common in Hispanic population, then we need to know about those now so that we can include that in future medications that are being developed, because, as you said, if that's not happening now, we're going to miss out on that and develop drugs that are more helping people in more of the European ancestry. So I think that's a really good point. And it's like we've had a long time of this gap in genetic research that as Dr. Monta started saying before in this conversation, a lot of what we learned about with early days of the genome was based on white people, and we don't have a lot of data for other people. So I think that's really important and great that you guys are spending your resources to do this with this research and with the PD generation, some people might be listening that maybe they have a family member with Parkinson's disease, and they're like, Well, I'm curious about my own risk for Parkinson's disease and looking at if there is that familial Parkinson's. Is there a recommendation for people to have testing if they don't have symptoms themselves, but are just wondering about their own risk levels or is testing really safe for people that have a diagnosis? That's a great question. And this is where genetic counseling, I think, is really important with PD generation. We're offering testing to people who already have Parkinson. So the cat's out of the bag. So we're just kind of hopefully maybe uncover a reason why they develop PD. But for people who maybe consider that risk because they have a loved one with Parkinson's, especially a genetic form of Parkinson's disease, that's a difficult question. And we think basically that you should look before you leap. And that is bringing in a genetic counselor to think about that. That said, those who have made that decision and how to do it. As I mentioned, our PD generation panel is really not feasible commercially, you have to go to often multiple providers in order to do it. So we partnered with the genetic testing lab, Full Genetics, which is helping us with PD Generation to ensure that the same panel and PD generation is available to the consumer public. So as a self referral through Pictureware, PD, individuals who have the funds to do so can do their own genetic testing to see if they may be at risk for Parkinson's disease, if they have any of the genes in this panel. But I think this is something Nacho can talk more about just because you have a gene that can lead to Parkinson's by no means means you'll develop Parkinson's. And that's again, where genetic counseling is so important because people can interpret it wrong. And having a knowledgeable person like yourself, Kira, your colleagues who can do this, and that's really helpful as part of the process. Anything to add, Dr. Matha? Yeah. I just wanted to say, obviously, we only have a limited time to talk to you, and we're making things easier. But as Jim said, for most of the variants that we know that are pathogenic, we know that there are people in the 80s and 90s that are carriers that never develop the disease. What that means is that they're causal in most people. But there are some people that never develop the disease. We still don't understand. It could be something to do with the environment and other genetic variants in the rest of the genome, because the genome has lots of different genes and lots of things that interact with each other. So right now, it's very hard to be able to counsel somebody, even for some of these variants that we know very well that it causes Parkinson's and a lot of the families to be able to tell somebody that is symptomatic. But the risk is if they're going to develop the disease, when does going to happen because the disease is so heterogeneous, even within the same family, even within the same family, with people with the same Pavlogenic variant, some people might develop in the 60s. Some people might develop in the 70s. It's very hard. I think genetic counselors have a really hard job in parking to be able to do this for people, for individuals that don't have the disease yet. So I think that's why most people don't recommend family members to do this testing right now because we don't know enough. But obviously people want to know. As Jim said, there are ways to do it. As a tip. I always tell all the individuals that I interact with, that they have parents or grandparents that have parking systems and they have a Pathogenica. I always say, look, you can't really control anything in your genome, so at least do everything else possible to lower your risk. Right. So try not to interact with pesticides, try not to do contact sports where you might get a concussion. So try to avoid those other things that could be triggers and exercise is healthy. That's as much as we can do right now. If we ever get a drug that is neuroprotective, then I think that's going to be a completely different ballgame, because that means that people will want to know and they might want to participate in those clinical trials, and they might want to take drugs, even if they don't know for sure that they're going to develop the risk might be high enough that they want to take that route. But as of right now, I don't think that is very recommended. Unfortunately, yeah. That's certainly well said. And just looking at all of the genetics of this is so interesting. I did a short internship during Grad school with Cornell of doing Neurogenetics and just found it to be so interesting and very different from a lot of other fields of genetic counseling. So certainly something for listeners to look more into. And if someone wants to participate in PD generation, how can they do that? Should they go to Parkinson. Org. Com. I'm sorry. Parkinson. Org or is there a different website for them to visit? No, they can go straight to Parkinson's. Orgpdgeneration and at that site, they can begin the process to learn more about the study. There's a video which is required as part of the consent to watch, give a little background about genetics and Parkinson's and go from there. We're also looking to expand access to broader number of people. So individuals who go see a moving sort of neurologist at Centers of Excellence for Parkinson's Foundation or other neurologists who really take care of a lot of people with Parkinson's. We're trying to reach out to them so that they can refer directly to the foundation as part of the process. We've got a lot of interest in this and that's fantastic. We're a small foundation that's doing our best. And so as we get more support, we can open up more opportunities to do this. But as we've said, genetic testing is expensive and we are paying less because we committed to $15,000 from our provider. But that's not something that's really easily done for most people or even for the foundation. So we're hopeful that as we accumulate this data coming through it's, researchers like Dr. Mada here and his colleagues can really hopefully make a lot of it, as well as the opportunity to educate people with Parkinson's, what might be the cause of their disease. And what we're also talking about is that there's clinical trials, which we hope will be coming soon, and that's going to be a key inclusion criteria. Can I participate in this trial? Do I have a genetic form of Parkinson's? Yes. And that's going to be helpful, because there's no way we're going to make advances in trying to solve PD unless people are willing to participate in clinical trials and no one is half the battle. Yeah, definitely. And I think that's a really important point that if people do want to participate in clinical trials in the future, they probably will need that genetic testing. So now would be the time to do it, especially through your PD generation, because you're covering the cost of that. So if someone has a diagnosis for Parkinson's disease, definitely worth it to explore doing this. And thank you both for just doing so much research and adding to this field, especially with the Hispanic community of just we need that data in order to help close that gap in care and just how much we know. So thank you so much for doing all this work. But then coming on the show and share, Dr. Maddie, do you have something else to add before we add? Yeah, I just wanted to say that because as I mentioned before, the efforts that we're trying to put to be inclusive, the whole process can actually be done in Spanish. So as Jim said, they can go to the website and just to mention that if there anybody that is listening that feels more comfortable speaking Spanish and English, the whole process, from consenting to generic counseling, everything is done in Spanish, so that's also available, which I think is a very unique thing that has not been done. And hopefully it will open up this opportunity for all the communities, the Hispanic communities in the US. Yeah, that is fantastic, because sometimes it is hard. If you're talking in language that is not your native language, it's hard enough to understand all this information. So taking one less barrier out that's fantastic to hear. So again, go to Parkinson's. Org and you can learn more about the show by going to dnapodcast. Com and search DNA today on all of the social media to interact with us there. And this episode is also available on YouTube. If you'd like to watch it and any questions for myself for our lovely guests today, feel free to email in info at dnapodcast. Com. Thank you both so much for coming on the show. Really appreciate hearing all of your expertise on this. Thanks for listening. Everybody, join us next time and learn to discover new advances in the world of genetics.
