22q13 deletion syndrome

having me today to chat about the PMS Data Hub.

For those who don't know me, I am a parent of a child diagnosed with Phelan-McDermid syndrome.

He is 16 years old and received his diagnosis at two and a half.

So I've been involved with the foundation since 2013.

So let's start with the basics.

Can you tell our audience, what is the PMS Data Hub?

The PMS Data Hub launched in late 2021. and is the only patient registry in the world dedicated specifically for individuals diagnosed with Phelan-McDermid syndrome.

To better understand a rare and diverse disease like Phelan-McDermid syndrome, researchers need to study which genetic alterations lead to which symptoms.

And this creates a severe diagnostic dilemma when we encounter specific genetic syndromes.

syndromes like Fragile X or Phelan-McDermid syndrome.

Let's break those down because they illustrate the problem perfectly.

What exactly is Fragile X?

And it predominantly affects males more severely than females, right?

It does, yes.

Okay, and what about Phelan-McDermid?

Phelan-McDermid syndrome is caused by a deletion of a small piece of chromosome 22, specifically affecting the shank K3