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[00:00:31] Dr. Tiago Outeiro: That's right. I think we're all missing this, right. And it's too bad that Congress is still a bit smaller than usual, but it's great to be here and we look forward for the future to continue the Congresses in person. So for you, what are the major highlights in PD genetics from the Congress? What, what would you highlight.
[00:00:53] Dr. Roy Alcalay: So the question is, what do I compare it to? And I think the last MDS in person was in 20 19 in Nice. So I'm looking at what happened in the past three years. And we're learning a lot.
First of all, people have accomplished a lot of things in spite of the COVID restrictions. And there is a lot of data about what people have accomplished. Specifically on the observational part. We see that there's huge effort of recruitment of patients to genetic studies. And I will mention three efforts.
One is ROPAD that is managed by CENTOGENE is mostly outside of the United States. There is PD GENEration that is funded by the Parkinson's foundation in the United States which both offer genetic results back to patients. And we see that both have been able to recruit quite well in spite of COVID.
And the third effort is GP2 that is really about analyzing DNA and finding new genes and new risk factors for Parkinson's. And that's an effort that really grew significantly in the past 3 years. On the interventional component of genetics in 2019, there was one study of MOVES-PD by Sanofi. And now we're in 2022 and that study has completed, which is a great news that they were able to do study only for GBA carriers with Parkinson's. And the not great news is that the study didn't show the results that they were hoping for. But here in the conference, we hear about other precision medicine studies in specifically in LRRK2 antisense, oligonucleotides and small molecules as inhibitors. They were described yesterday in a plenary session about clinical trials.
[00:02:33] Dr. Tiago Outeiro: Yeah. No, thank you. That that's very good to know. So you'll be talking on the plenary session on how will genetics impact movement disorders management in the clinic. And you'll be talking about, of course Parkinson's disease. So can you give us a gist of what you'll be talking about in your session.
[00:02:52] Dr. Roy Alcalay: Sure. So I think in general Parkinson's disease, genetic testing was completely research level 10 years ago. And then we accumulated so much data about the genetics that it's very clear that the people with Parkinson's all over the world want to know if their carriers or non-carriers.
A lot of them want to know, and once they want to know, we need to find a way to give them the data back. And it can absolutely affect the way they're managed. So one thing is, if people just want to know why they had this condition and that's why they want to know their genotype. Another is for people who are interested in clinical trials, they won't be able to participate if we don't let them know their mutation status and integrate them into those clinical trials.
And of course there are more traditional reasons of people who are in family planning stages that we can help them out. Know what's the risk of their offspring, and probably a common reason to genotype is if people just want to know what's their status and what's their disease progression because what's their prognosis, because in all these years of observational studies, we've accumulated a lot of data about the rate of progression in alpha-synuclein carriers versus PRKN homozygotes versus LRRK2 or GBA.
So we are in a different era where the genetic testing has become part of the clinical discussion. And because of all those efforts, like PD GENEration and ROPAD they're actually available for a lot of people if they want to integrate it into clinical practice.
[00:04:17] Dr. Tiago Outeiro: Yeah. So, and I think you're totally right. They're now in a time when we're talking so much about PD subtypes and biological definitions, and we are working on a task force on this. So how do you see genetic testing help also in coming up with a biological definition of Parkinson's.
[00:04:37] Dr. Roy Alcalay: Right. So I think the genetics are going to help us out further define Parkinson's and understand that the definition is something that will depends who's asking. Right. So in many ways there's going to be good practical use of thinking of Parkinson's as one condition. For example, if you develop drugs that affect the dopamine pathway, and then it really doesn't matter why you develop dopamine deficiency, you needed replacement. And if you want to modify the disease progression and change the course of PD, you want to know if the person in front of you with Parkinson's alpha-synuclein deposits, and then the genetics and the biomarkers that are also heavily discussed through the PMCA the RT-Quic aggregation assays may be very helpful to you.
And the genetics may be very helpful to you. If one has a GBA mutation or LRRK2 mutation, maybe in the future, the intervention would be on one hand to slow down the disease by affecting those pathways. And on the other hand, helping the motor symptoms by treating the dopaminergic deficiency.
[00:05:38] Dr. Tiago Outeiro: Great. So thank you, Roy.
I think this was very informative. It gives our listeners an overview of what's happening at the meeting and also in general in the world. So that was great. Is there anything else you would like to add in terms of genetics in PD or more broadly movement disorders at the moment?
[00:05:54] Dr. Roy Alcalay: Sure. So I think we've learned a lot from COVID and one is that it's much better to see people in person and we're very happy to be here, but we've also accomplished a lot by telemedicine and there's a lot of telemedicine and tele meetings resources that have been developed that we should continue. Specifically in the genetic testing and counseling, a lot of this can happen on telemedicine.
[00:06:16] Dr. Tiago Outeiro: Great. So, Roy, thank you so much for your time. It's been a pleasure having you on the MDS podcast. We've just interviewed professor Roy Alcalay and discussed the highlights in genetics at the MDS Congress 2022.
So thank you all for listening and join us in our upcoming podcasts.