DANCEing: Beyond Seizures - Dravet Syndrome - Simona Giorgi, Dravet Foundation EU, Spain
Dr. Simona Giorgi, the scientific director of Dravet Syndrome Foundation Spain, shares with us the foundation's research initiatives such as preclinical and clinical studies, their Dr. Simona Giorgi from Dravet Syndrome Foundation Spain shares their preclinical and clinical studies, epidemiological research, and their development of tools to support caregivers and people affected by Dravet! Highlighted are the needs for greater awareness among healthcare professionals about the capabilities of patient advocacy groups and the invaluable psychological support they can provide to families. Transcription and links to Simona, below! 👇🏻
Reported by Torie Robinson | Edited and produced by Carrot Cruncher Media.
Podcast
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00:00 Simona Giorgi
“The goal, normally, of these kind of studies is to set up protocols, or to talk to governments, or to improve the situation that we are detecting through these studies.”
00:12 Torie Robinson
Fellow homo sapiens! My name is Torie Robinson, and welcome to or welcome back to Epilepsy Sparks Insights.
Now, why do many people - including doctors, and even families, often, refuse to recognise or prioritise symptoms of epilepsy other than seizures? And, I can say, as a person with an epilepsy; this does my head in!
What is the point in decreasing seizure frequency and severity if we don’t want to live anyway? Or what is the point in just trying to control a patient’s seizures if their parents are so depressed and without sleep that they just can’t care for us well anyway?
In this episode we’ll be chatting with neuroscientist Simona Giorgi from Dravet Syndrome Foundation Spain all about these things! If you’re new and you haven’t done so already, please do like and comment on this episode subscribe to our channel - so as to support our mission to decrease the discrimination faced by and improve the quality of life of people affected by the epilepsies. And, of course (!) get everybody appreciating and getting excited about the amazing epilepsy research that is out there!
01:10 Simona Giorgi
Hi, thank you for having me. I'm Simona, I am the scientific director of Dravet Syndrome Foundation, Spain. So, we are a patient advocacy group based in Spain, of course, as the name says, and, well, we have many, many things ongoing, but I'm in charge of the research department.
01:33 Torie Robinson
What research are you focusing on right now?
01:36 Simona Giorgi
Well, we have some projects more in the preclinical stage and others which are more clinical and epidemiological, so the preclinical ones are basically trying to help other researchers do their work. So, we opened a lab recently in collaboration with a Spanish University. And I think we are actually the first rare disease patient advocacy group to have a lab. So, I think it's a huge achievement.
02:07 Torie Robinson
Pretty cool!
02:08 Simona Giorgi
Yeah! And so, we have 2 main goals here: one is to develop a biobank with patient samples, which is something that researchers have been asking a lot. And I think it's a good thing that we are in charge of it because ethically I think it's more correct that patients manage their own samples, and also we have access to patients, so, I think it's a win situation. And the second objective of the preclinical lab that we just opened is to develop open-access tools. You know, somehow, it's difficult to buy or to develop mouse models, plasmids, antibodies…
02:56 Torie Robinson
Mmm-hmm.
02:56 Simona Giorgi
…everything that researchers need. So, in the past we already developed 2 mouse models with Dravet syndrome, which are now completely free at the Jackson Laboratories and people can access them. And we also just published the plasmid, which is another tool for research. So, we want to try to continue doing that: developing tools for researchers.
03:27 Torie Robinson
Fab. And I really like the sound of they’re… sort of easily accessible; that is something that so, many researchers struggle with. And also, you mentioning the monetary side of things; it's incredible how much it costs to just get a rodent in and import them and then all the stuff that you need and etc., etc... no, I think that's yeah, it's really valuable. And so, tell us about your clinical research then.
03:50 Simona Giorgi
We collaborate internationally with many hospitals and physicians and researchers to do mainly epidemiological studies…
03:59 Torie Robinson
For people who don't know, what does “epidemiological” mean?
04:03 Simona Giorgi
Well, it's studies about the population that suffers from a disease, let's say., so, it's not clinical trials where we test drugs, but it's rather focused on knowing more about the disease. So, for example, the diagnosis, the management of the disease, how the quality of life of the whole family is affected. So, last year, for example, we published several studies where we got to know things that we expected, but it's nice to have actual data to prove that.
04:43 Torie Robinson
Mm-hmm.
04:43 Simona Giorgi
For example: how many mothers are involved in the care of their children compared to fathers? That a lot of parents had to give up their work or reduce their working hours…
05:01 Torie Robinson
75% I read, is that right?
05:03 Simona Giorgi
Yes, true, true.
05:04 Torie Robinson
Huge. And then the impact of the lack of income on quality of life and family quality of life, I imagine is huge.
05:12 Simona Giorgi
The stress and the sadness that it must give you (having to leave your job) even if it's to care for your children, it is a very burdensome thing to do.
05:27 Torie Robinson
Yeah.
05:28 Simona Giorgi
And then, yeah, we are planning to do more of these kind of studies, like, we have now ongoing study on SUDEP; which is Sudden Unexpected Death in EPilepsy. We want to know how much the risk of SUDEP affects the quality of life of parents and siblings of people… actually, not only with Dravet syndrome, but with developmental and epileptic encephalopathies
05:55 Torie Robinson
Mmm-hmm.
05:56 Simona Giorgi
…which is the whole big family of diseases where Dravet syndrome is included in…
06:02 Torie Robinson
And sorry, just to clarify, you say how it “affects” them. Do you mean how the worry about it affects them or when they experience it?
06:10 Simona Giorgi
No, how the worry of the possibility of it affects them…
06:14 Torie Robinson
Right.
06:15 Simona Giorgi
…and especially, we want to know if they were given with appropriate information…
06:18 Torie Robinson
Mm-hmmm.
06:20 Simona Giorgi
…if they have appropriate measures to maybe prevent or try whatever you can do to prevent it (which is still not clear, actually). So, we want to know more about it… and the goal, normally, of these kind of studies is to set up protocols or to talk to governments or to improve the situation that we are detecting through these studies.
06:51 Torie Robinson
So, it's so important. All too often, I think…. I get it, I understand why, but people look at seizure management as the only issue, the only thing that needs to be achieved. When in fact, when you look at a person's overall quality of life, there are many factors which need to be looked at and are important. Like, for instance; you mentioned employment, right? And then even if you only care about the person with the diagnosis, you know, the impact of that on the child or the – person that they're caring for… because of the likely poor mood of the parent, would be huge. So, no, I think it's just so, so, important.
07:34 Simona Giorgi
This is a good start to talk about a tool that we just developed, which is called DANCE. This tool is a questionnaire which parents or caregivers can fill out to detect neuropsychiatric comorbidities in Dravet syndrome patients. So, it's an acronym which means Dravet Syndrome Associated Neuropsychiatric Comorbidities Evaluation, but it's a bit long, so, we…
08:02 Torie Robinson
Yeah!
08:03 Simona Giorgi
…we shortened it. So, yes, with this tool we want to help parents detecting the evolution of behavioural issues, mobility issues, speech problems and all the other comorbidities that are related to Dravet syndrome because as you said; seizures are burdensome, are a huge part of the disease but it's not the only thing.
08:28 Torie Robinson
I think you just used the word the “evolution” of, and that's really important too, isn't it? Because everything can change over time within the person's life. So, the severity of different things... I mean, I completely relate to all of that actually. I don't have Dravet, but as a person with another type of epilepsy, what you're talking about, I completely relate to from a patient perspective.
08:51 Simona Giorgi
Everything that you say remembers me of a project that we are doing, So, sorry for...
08:55 Torie Robinson
No, go!
08:57 Simona Giorgi
But yeah, we are also, developing a guide for transitioning from neuropaediatric care to neurology care (in Spain, of course, because every country has its own specificities).
09:14 Torie Robinson
Mm-hmm.
09:15 Simona Giorgi
But yeah, this guide is meant for caregivers and physicians to know what to do when a patient is, let's say, 12, 13, and the features of the disease are starting to change and the neuropediatric can no longer take care of him or her.
09:37 Torie Robinson
Mm-hmm.
09:37 Simona Giorgi
We also included tools to improve the transition of education. For example: and legal issues that have to be taken into account when the patient grows up.
09:55 Torie Robinson
I've spoken to parents and organisations about this and can get very sort of… people are commonly very unsure of what the laws are and what they do ethically… and actually you make me think of something else with, we have to look at also, what is best for the family as well as the person with the Dravet, right?
10:19 Simona Giorgi
Yeah definitely.
10:19 Torie Robinson
So, we spoke beforehand and you told me that only 15% of clinicians were aware of the capabilities of patient organisations to support both the patients and the healthcare professionals. And I assume the families as well. 15%, that's pretty low.
10:37 Simona Giorgi
There was a project where we tried to inform as much as possible health centres and hospitals of what we do - by sending flyers and emails and as much information as we could do, but it's difficult sometimes because there are tonnes of diseases.
10:56 Torie Robinson
Yep.
10:57 Simona Giorgi
So, only thinking about neurology… I cannot even imagine how many patients and diseases a neurologist has to deal with! So, of course there are more informed physicians which we collaborate with routinely, but there is a lot of health professionals that do not know, unfortunately, what we and other patient advocacy groups do.
11:25 Torie Robinson
Well, I guess through things like podcasts (!) and I guess the families that you're already working with, I hope we can spread the word that way out to more clinicians. Do you find that work sometimes?
11:39 Simona Giorgi
Yes, I think we have to do everything we can. So, radio, podcasts, blogs, newsletter, everything.
11:47 Torie Robinson
So, you say “radio”; have you guys got your own radio program?!
11:51 Simona Giorgi
Yes, actually, we do! It started recently. We have a radio program here in the collaboration with the same university where we have the lab. And then we also uploaded it to the main platforms of podcasts. It's the local radio station of the university.
12:12 Torie Robinson
I think worth mentioning is that from families that I've spoken to and based on our conversation before, you know, you provide not just information for families but emotional support, I think for the families too. Is that correct?
12:26 Simona Giorgi
We have other professionals that help patients and families with psychological, social, and legal issues. We have a whole support program where we have weekly meetings with families that want to join and then we can refer some of them to a psychologist who collaborates with us and then we also, have a legal team who supports us.
12:57 Torie Robinson
Thank you so much to Simona - for sharing with us the cool, easily accessible research into the rare epilepsy Dravet Syndrome - and how her organisation now even have their own lab - which is pretty cool.
Also, do note that the European Dravet Syndrome Conference 2025 is coming up - which will take place from 3rd - 4th of April at the Official College of Nursing of Madrid. The topics spoken of will include: advances in gene therapy and precision medicine, the latest research on epilepsy management and seizure control, the importance of multidisciplinary care for patients and families, and updates on clinical trials and future treatment perspectives. And, I’m just getting excited reading that! So, if you wanna learn more about that, we’ve included a link to the conference in the text below and you can also, though, check out more about it on the website epilepsysparks.com.
If you haven’t already, please don’t forget to like, comment, and subscribe to the channel, and share this episode with your friends, colleagues, family members, your pet, universities, schools - the whole shebang - because this all supports our mission to decrease the discrimination faced by and improve the quality of life of those affected by the epilepsies… and get everyone appreciating the incredibly cool epilepsy research out there! See you next week!
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Simona Giorgi holds a PhD in Health Biotechnology from Miguel Hernández University and a Master's in Pharmaceutical Biotechnologies from the University of Bologna. Her career is characterised by active collaboration in both basic and translational research projects, with a particular focus on the study of neurons and ion channels.
Currently, Simona serves as the Scientific Director at the Dravet Syndrome Foundation Spain, where she centralises and coordinates pre-clinical and clinical research projects. Her work is aimed at expanding knowledge about this rare disease, with the goal of improving the quality of life for patients and their families and eradicating the stigma associated with epilepsy and disability.
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