Rett syndrome

And there's a couple examples I want to share because other communities have been doing this, and they're well ahead of us.

The Rett community just put something out with 323 caregivers surveyed.

Links in the show notes.

The Angelman community surveyed 105.

These are both communities.

Well, Rett has an approved drug.

Angelman, not quite yet, but will soon have an approved drug.

And we want to take what they've done and do it better.

And West Virginia delivers the first hit from Wes Richardson, number 41.

Now, along with the passing game, Kelvin Randolph, a fullback, will help set the table for Eric Rett when the Gators do go to that run game.

Anthony Ingrassia starting at left tackle as he did against Alabama in the SEC title game.

On the defensive side, Derek Wiley, number 45, one of the big hitmen for the Mountaineers.

The breeze, the linebacker starts to move in one way, makes him easier to block.

Twelve yards and a first down, and that game's got another carry.

And Eric Rett, he, of course, surpassed Emmitt Smith's career rushing record of 3,928 yards, and he is shaken up on that play as he goes down, and he is grabbing at his back down there at the 47-yard line.

And here comes the medical staff.

Uh, Boston was good.

Uh, it was, so we switched clinics, Rett clinics.

We did go to, we were going to Montefiore, uh, but the neurologist, Rett neurologist there retired.

And can I ask a question? Do they still have a clinic? They do.

Okay.

It's very interesting.

And overall, I think they're all helpful.

But a lot of it has to do with, like, well, one, knowledge of Rett syndrome.

We had a couple on there.

Their daughter has Rett syndrome, just like ours.

And she's very mobile.

And the Rett syndrome community, like that's not that common, you know? So there's some that walk, but she's like up and can get into the refrigerator.

And I noted in the conversation that while that sounds amazing to individuals like us, we're like, we're constantly carting him around and everything else.

that comes with its own set of challenges.

But she had a double ear infection.

We had no clue, right? Yeah.

I moved my whole family and, you know, moved everything over there like for that year.

But, yeah, my first daughter was just born and she had a condition called Rett syndrome and we didn't know that at the time and then she was a – Um, a big part of the reason that I came back to Australia, um, and, and then did all my preparation for Sydney 2000, um, the year after.

Yeah.

We're skipping ahead a little bit.

Yeah, which was when my daughter started dragging her leg as she was crawling and things like that.

Right.

And so tell us about Rett Syndrome.

I think raising awareness is something that I think you're pretty keen to do.

Absolutely.

And here I would give credit to those who have come before us, like the Angelman and Rett Syndrome communities.

So they've really proven that the patient groups can do work that leads to viable treatment candidates.

So I think now the savvy industry players see patient groups as important potential partners in drug development and not just as helpful when you need to organize the community.

Hi, my name is Lucas Ragnolo, and I am a PhD candidate at the University of Melbourne and Murdoch Children's Research Institute.

In this video, I'll be presenting our systematic review of speech, language, social communication, and communication assessments in Rett syndrome.

I'd like to thank my supervisors, Professor Adam Vogel, Professor David Amor, and Dr. Ruth Braden, as well as my co-authors, Professor John Christodoulou, Dr. Jana von Hoern, and Dr. David Lieberman for their contributions to this paper.

Rett syndrome is a monogenic neurological disorder primarily affecting females.

It's caused by pathogenic variants in MECP2, a master transcriptional regulator in nervous system development.

A key feature of Rett syndrome is developmental regression, during which individuals lose previously acquired skills, including spoken language and purposeful hand use.

Despite the importance of communication in Rett syndrome, there has been no systematic review consolidating evidence on speech, language, and social ability.

This is a fundamental concern given that study methodologies and outcomes are highly heterogeneous.

Boog Powell at first base batting cleanup.

Merv Rettman making his first start in the series is in left field.

We're going to have Chuck Thompson come in and talk about this fellow.

He's quite a story.

Earl, you're playing Retton Moon today, I guess, according to the lineup.

Any reasons for that?

Well, I played Rettman a lot toward the end of the season.

He was our club's leading hitter, and I played him a lot against left-handed pitching.

So we're pretty excited by that.

So Huntington's ALS, you've also opened a collaboration with the Rett Syndrome Research Trust to explore how you might address Rett Syndrome.

How are you as a CEO, as an executive in the team, deciding which disease to go after next with this platform of yours?

Yeah, it's a good question.

I mean, with the RET Syndrome Research Trust that we collaborate with, you know, they have spent many years trying to understand RET as a disease because it's obviously, you know, a rare disease with relatively few patients.

But they've also spent a lot of time trying to develop different modalities that could potentially address this disease.

And so one of the things that they have thought about for many years is Can they develop a gene editing approach to Rett syndrome, preferably a gene editor that then could be delivered using a non-viral delivery system? And so, you know, there aren't that many companies having compelling non-viral delivery data of gene editors in the central nervous system.

And so I think we have a bit of a meeting of the mind here in the sense that, you know, we think gene editing is really great technology.