Dr. Sergiu Pașcă
👤 SpeakerAppearances Over Time
Podcast Appearances
So another one that we're studying now, there are forms of epilepsy, which are very difficult to study.
There are intractable forms of epilepsy.
Patients who have some of these genetic mutations, whether they're in an ion channel or in molecules that are important for cells to stick with each other, they can cause 60 seizures a day.
So there are really devastating conditions that are actually causing impairment just by having those seizures every single day for 10, 15 years.
And so those are a really big issue right now.
So we've been focusing a lot on trying to build our models for these epileptic seizures, either through in vitro studies or after we transplant, and then we study more complex networks in patients.
And then, of course...
intellectual disability, so severe intellectual disability, schizophrenia, forms of schizophrenia.
So we've been studying now for almost 12, 13 years, 22q11 deletion syndrome.
We think it's like an entry point.
It's the highest genetic risk factor that we know of for schizophrenia.
So we think it may give us some windows into how
molecular defects arise.
So I think you can think of most psychiatric and neurological conditions that you can study now as long as they have a strong biological genetic component.
So I think those that have a social component, those that are triggered by social stress, let's say, right, like forms of anxiety, you know, depression, those are much more challenging to study because, of course, we can mimic that social environment.
But we are actually working on dystonia because there are devastating conditions and there are now genetic mutations that cause really severe forms of dyskinesia and dystonia.
So really uncontrollable movements in these kids that are really devastating for social functioning and in general for development.
And so we do know a little bit about the biology behind it.
We do know that the basal ganglia, this deep structure into the brain is very important for movements.
We very often stimulate that brain region for Parkinson's disease or parts of those circuitry.