Dr. Sergiu Pașcă

Of course, now in patients, there are present also in the central nervous system, so it's always difficult to distinguish.

But just missing some of these critical periods or perturbing some of these critical periods of development can have certainly devastating effects later on.

No, there's no single treatment for autism, again, in the context of this not being one single disease.

What we can say today is that if, you know, family walks into the clinic with the diagnosis of autism or perhaps like they receive it into the clinic, there's still like a 20% probability that they will leave the clinic with the genetic diagnosis, meaning that it will be pointed out to them that this gene is mutated in your child.

And it may be sometimes a mutation that was present in one of the parents and got transmitted, or maybe it was present in both and somehow the child got two copies that were modified now, or many of the genes were actually mutated de novo, meaning that the mutation was not present in either parents, but something went wrong during development, perhaps early in the sperm cell, in the egg cell, or perhaps in early stages of development, and a new mutation was acquired.

But that is also, we acquire a lot of mutations, all of us, we have a lot of new mutations, right?

About like 80 new mutations, 30 of them are protein truncating.

So certainly the challenge very often is to, even when you see a gene that is mutated, to know whether that gene is truly causing the disease.

So very often the way we know is that we find many patients that have a similar presentation clinically.

Let's say maybe they'll have syndactyly.

So they're webbing of the finger and they have autism and let's say epilepsy.

And they all have a mutation in one single channel.

let's say in a calcium channel.

So that would be Timothy syndrome, a genetic form of autism, where the mutation is very clear.

Actually, there's one single letter in the genome that is changed and causes a relatively similar presentation in all of these patients.

So about 20% of the patients will get a genetic diagnosis.

Now, sadly, that doesn't do that much today because we don't really have specific therapies for those forms.

I think the hope is that perhaps we will have individual treatments, whether they're going to be genetic or otherwise.

So being part of that community is generally useful.

And then the rest of the patients will essentially fit into this larger category of idiopathic, meaning that we don't really know the precise cause.