Dr. Sergiu Pașcă

Most of the patients that we know, we've never identified a patient who is non-affected, and they're very severely affected.

But there are other conditions that are much more common.

I think the classic one is a deletion that is happening on chromosome 22.

the so-called 22q11.2 deletion syndrome, known by many, many names, velo-cardiofacial syndrome, the Jor syndrome, known by many names because it's so common.

It's actually the most common micro deletion in humans, about 1 in 3,000 births.

Now, the condition is associated with

Cardiac issues, immune conditions, many of which can actually be addressed medically.

But it also comes with a 30% risk for schizophrenia.

So you think the general population is 1%.

So this is about 30 times higher.

It also comes with a 30% risk of autism.

But you could also not have any of this.

There are individuals who are carrying the 22q11.2 deletion, which is a large deletion, by the way.

There are 60 genes that are gone in the classic deletion, and yet still carry it around and have minimal defects or phenotypes.

Do we test for this 22q?

This is tested generally these days, yes, because it's so common.

But I think that the challenge is this...

problem of penetrance.

And in some patients, and we don't know what the context is, each of us has a very complex genetic background.

So it could be that the same mutation, two different individuals will have different levels of severity because one of them perhaps compensates much better for whatever reason.