The Power of Collaboration in Epilepsy Research - Eduardo Pérez Palma, Universidad del Desarrollo, Chile
Eduardo Pérez Palma, a neurogenetics scientist and bioinformatician, discusses his work in neurogenetics and epilepsy research, emphasising the importance global collaboration in studying the epilepsies in different parts of the world! Eduardo explains the value of genetic testing and personalised medicine, and highlights the need for diversity and representation in genetic research, particularly in Latin American populations. Eduardo describes his current work in diagnosing and studying developmental epileptic encephalopathies (DEEs) and invites clinicians, researchers, and patient families to contribute to his research. He concludes by promoting the upcoming Latin American Congress on Epilepsy Genetics, which aims to bring together experts from various fields to share knowledge and perspectives!
Reported by Torie Robinson | Edited and produced by Carrot Cruncher Media.
Podcast
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00:00 Eduardo Pérez Palma
“Genetics have moved forward a lot. There is a problem of diversity and representation. So, most of our genetic knowledge in every field comes from European ascending populations. Other ethnicities are poorly studied; Latin Americans, they even have an additional problem that [they] are a mix! So, we have a mixture of genetics!00:21 Torie Robinson
Fellow homo sapiens! Welcome to or welcome back to: Epilepsy Sparks Insights.
Now, let me introduce to you today; a person who, by his own words is “researching genetics and epilepsy, with a Latino twist” - clinical neurogeneticist Eduardo Pérez Palma, from Chile! Today, Eduardo shares with us the value of genetic testing in epilepsy, the need for diversity and representation in genetic research (hence, his fabulous work - which you’ll hear about shortly!), and his cool congress coming up very soon - the First Congress in Epilepsy Genetics in Latin America, actually. Not one to be missed!
Please don’t forget to like, comment and subscribe to the channel if you haven’t already, so that we can educate regarding the epilepsies to more and more people around the world - from Asia, to Africa, from North America to South America, from Europe to Australasia, and, who knows, even Antartica!01:14 Eduardo Pérez Palma
I am a scientist by engineer at the beginning, and then I slowly went into bioinformatics, genetics, and computers. So, I work there, and I'm very much interested in neurogenetics, especially epilepsy. And I've been studying epilepsy since almost 8 years from now. So, it's been quite a ride. Met a lot of interesting people…01:44 Torie Robinson
From around the world…!04:46 Eduardo Pérez Palma
Oh, yes!01:46 Torie Robinson
Beforehand, we were talking about the States, we were talking about Germany, yeah, it's a global collaboration, right, in this field?!01:54 Eduardo Pérez Palma
Yeah, it's unavoidable(!), especially with the developmental epileptic encephalopathies. Most of them are, well, all of them are rare with low prevalence of incidences. So, you have to work with other people, otherwise, you can't group together information and see patterns, identify new things. It has to be like that.02:17 Torie Robinson
Tell us about the “value” of somebody in your role when it comes to epilepsy, because, most people, they might think of a neurologist, loads of people haven't even heard of an epilepsy nurse, let alone an epileptologist or a neurosurgeon. Why is your role important?02:33 Eduardo Pérez Palma
Well, I did ask that question at the beginning, because in the pursuit of knowledge as a scientist, every knowledge; it’s valuable by itself. So, it's a good endeavour and you can dedicate your life to that. But when it comes to something like epilepsy - a disease that people are waiting for solution - it changes your orientation as a scientist. I remember my first epilepsy conference, I went into a patient discussion session and people, clinicians, were discussing what the patient had and showing pictures of MRIs and everything else. It was quite a while ago and I heard that, yeah, somebody raised their hand and said “What if we do a genetic test?”. And the person that was on the podium said, yeah “It's interesting, but what we can do with that is it's cute. I think it's good to know, it's interesting, but we have to treat the patient, so, this is not useful.”. And a lot of things have happened since then. And now I see whole sessions dedicated to genetics in epilepsy! We see new treatments tailored to some specific patients. We see changes in management due to genetic tests and etiological diagnosis. So, it's been quite a ride to being able to witness that and contribute to that too.04:12 Torie Robinson
I guess it's quite an exciting time to be alive and working in the sphere, isn't it? Because things are just going...04:18 Eduardo Pérez Palma
A couple of years [ago] we were discussing if it was even useful and now, we're in need of more and more and more genetic testing. So, I love that and I think good things will come in the future too.04:33 Torie Robinson
In your role, I know you have your own lab and a group of people, how does that work?04:39 Eduardo Pérez Palma
So, first, we recruit patients from all over Chile - and even some countries from Latin America - and we do a special genetic test. We take the saliva or blood and then we send that to be sequenced.04:55 Torie Robinson
Is it the Whole Genome Sequencing or Exome Sequencing?04:58 Eduardo Pérez Palma
We do something new. It's called a Blended Genome Exome that combines both…05:03 Torie Robinson
Swish.05:03 Eduardo Pérez Palma
..in a cost-efficient way, yeah…05:04 Torie Robinson
Ohhh, cool!05:06 Eduardo Pérez Palma
Yeah, it's pretty cool. So, you're able to identify new things, new pathogenic things within the exome (that is the coding portion of the whole genome). But then, on the rest of the genome that doesn't have genes, let's say, you have low coverage sequencing…
05:25 Torie Robinson
Mmhmm.05:26 Eduardo Pérez Palma
…that allows you to do a common variant analysis, polygenic risk scores, ethnic calculations. So, I'm quite interested in that. So…05:36 Torie Robinson
So am I! Why are you interested in that part of things?05:59 Eduardo Pérez Palma
You know, genetics have moved forward a lot, during the last years but it’s… there is a problem of diversity and representation.05:48 Torie Robinson
Right.05:48 Eduardo Pérez Palma
So, there is…most of our genetic knowledge in every field comes from European ascending populations. So, other ethnicities are poorly studied; Latin Americans they even have an additional problem that [they] are a mix! So, we have a mixture of genetics that is not a thing on its own. So, you have two main components: Amerindian and European. So, those two components interact with each other. And I'm quite interested in finding out what happens there; if there is any differences. So, this special sequencing technique allows us to do those analyses.06:36 Torie Robinson
Ahhh!06:37 Eduardo Pérez Palma
You can see, for example, with this sequencing, you can paint chromosomes and see what portions of your genome belongs to some ethnicity, to Europeans. So, this is a European section that you have that could contain a whole gene within it and some Amerindian ascending genes. that interaction with rare and pathogenic variants from the exome is quite interesting. So, we're working a lot with that and it's a new thing. So, it's an opportunity to develop new methods and that kind of stuff.07:17 Torie Robinson
Tell us a little bit more about the DEEs and the work that you are specifically doing to help people affected by these.07:24 Eduardo Pérez Palma
During my career, when I started in the epilepsy world, I worked a lot with awesome people like Andreas, Dennis, Rikke, and I got involved in the description of the phenotypes. So, they were aggregating patients and identifying how this specific encephalopathy behaves. I actually, during my postdoc, was almost raised by patient family foundations! I was funded at the beginning by the Dravet Foundation to do my postdocs, so, I went right into the DEE world and we identified a lot of information; how patients evolve, what features do they manifest, and so on. But then when I came back to Chile, the main challenge is diagnosis. So, through research, we are working on identifying the cause of the DEEs and along the way, we will accumulate enough numbers to describe specific cohorts. But, at the moment, we're working a lot on sequencing patients and diagnosing patients that live the diagnostic odyssey. So, we're offering and doing a lot of genetic testing and handling the information ourselves. So, we do all data analysis, variant interpretations… we even deliver a report that… so the participants know what… if the result, if the test is positive; to know what is happening. So, that's our small contribution. And of course, during this process, we're creating a cohort that is growing a lot, that can be compared with what is is known out there and talking to a lot of people to say “Hey, do you have somebody with a variant in this gene?” and so on, so we can see if there is a match and we can aggregate patients and clinical information to understand the disease. So, that's the next step.09:40 Torie Robinson
And so, if we have any clinicians, researchers, or even patient families interested in, you know, being involved in some way or contributing in some way, is that a possibility?09:52 Eduardo Pérez Palma
Recruitment is possible from South America…09:55 Torie Robinson
Any country in South America?09:56 Eduardo Pérez Palma
Sure, sure! Of course, the funding is limited and we have restraints, but we we've done it before and that's possible. Also, we take our time - we're not as fast as a genetic testing company - and it's not the objective, this is research, so, that's also really important to make it clear; it's a different orientation. And, but, and this is something that you can always ask to any research group; if they have some unresolved patients, maybe a variant within an obscure gene that you suspect, maybe we have somebody there with a similar variant on the same gene, and maybe 2 is not an exception anymore! So, then we can start aggregate numbers and see what happens. And so you need to talk to different groups.10:56 Torie Robinson
Check out the fabulous Eduardo. There'll be contact details or links to your profile everywhere. And, also, everybody, make sure that you check out the website for Eduardo's conference coming up in January. And what's it titled Eduardo?11:12 Eduardo Pérez Palma
It's the Primer Congreso Latinoamericano de Epilepsias Geneticas, or the First Congress in Epilepsia Genetics in Latin America. And it's something that we have been working on a lot, we are quite proud of the lineup of speakers that we have.11:31 Torie Robinson
I’m impressed. Wow, yeah!11:34 Eduardo Pérez Palma
A lot of cool people are coming. And the idea is to share and talk to each other; we will have different perspectives from family foundations, scientists, clinicians, industry. And it's not limited to Latin America! We will translate everything live., so, the idea is that everybody's welcome! And it will be the first time that we will have something like that here! So, we're quite proud of it. And we're working a lot to get the most out of that event.12:09 Torie Robinson
Well, if anybody needs any convincing, several of the fabulous speakers at this conference have been Epilepsy Sparks Insights guests! I'll put their names below as well so you can check out these great speakers. And of course, you'll get to hear Eduardo speaking live as well. So, that's something not to miss.12:27 Eduardo Pérez Palma
Thank you. was very nice to be here.12:30 Torie Robinson
Thank you so much to Eduardo - for sharing with us his research into developmental and epileptic encephalopathies in Latin America - and his cool, first of it’s kind (in Latin America), his conference on Epilepsy Genetics - which has some fabulous people attending and speaking - do check it out! Also, check out more about Eduardo and his research on the website torierobinson.com (where you can also access the podcast,the video, and the transcription of this episode), and, if you haven’t already, don’t forget to like, comment, and subscribe to the channel, share this episode with your friends/colleagues/family members, whoever it might be (!) and, see you next week! -
Eduardo is a Chilean Bioengineer and Molecular Biosciences Ph.D. He did his postdoc at Cologne University, Cologne, Germany, under the mentorship of Dennis Lal, where he began to apply his bioinformatics skills for research into genetic epilepsies and neurodevelopmental disorders. Eduardo then worked as a research associate at the Cleveland Clinic, Cleveland, USA. Eduardo is currently an associate professor at Universidad del Desarrollo, Chile, leading the Clinical Neurogenetics Lab, where he studies genetic epilepsies and neurodevelopment disorders; with a particular focus on Latin American patients.
With 45+ publications, 13 online genetic variant interpretation tools, and several ongoing research projects; his research aims to bridge the gaps between genetics and bioinformatics in clinical practice. -
X/Twitter: EdoPerezP
LinkedIn: eduardo-perez
Congreso Latinoamericano de Epilepsias Genéticas: www.cleg.cl
Universidad del Desarrollo: eduardo-perez-palma
Orcid: 0000-0003-0546-5141
European Journal of Paediatric Neurology: Palma/Eduardo
ResearchGate: Eduardo-Perez-20