PTLS Hope Research Foundation

💚 Today we come together as a global community to raise awareness for Potocki-Lupski Syndrome and to celebrate the incredible individuals and families living with PTLS.

Every child with PTLS shares common characteristics, but the reality is that this condition exists across a wide spectrum. Some of our children are thriving against the odds, making progress that once felt unimaginable. Others are facing much greater challenges every single day.

Both stories are real.
Both deserve to be seen.
Both deserve research.

Today is about honouring all of our families. The resilience, the advocacy, the determination, and the hope that carries us forward even when the path is uncertain.

We know how much strength it takes to show up for your child every day. We see the therapies, the appointments, the caregiving, the advocacy, and the celebrations of every milestone big and small. And we see the unwavering love that drives this community forward.

But today is also about progress.

Because of this community, real research is now happening. Through advanced AI-driven analysis and deep RNA research, we are beginning to better understand the biology of PTLS and identify pathways that may lead us toward meaningful treatments.

We are also actively driving forward the PTLS biomarker study and supporting the RAI1 patient registry in collaboration with Baylor College of Medicine, helping to build the critical data that researchers need to better understand this condition and accelerate the path toward treatments.

This work is only possible because of this community. Families, friends, and supporters who believe our children deserve more.

And we will not stop here.

We will continue to support families, amplify the voices of this community, and drive active research forward until the future for children with PTLS looks very different than it does today.

Today we celebrate our children.
Today we share our stories.
Today we remind the world that rare does not mean invisible.

Together, with resilience, love, and hope, we move forward. 💚

Did you know?
We’re using advanced AI and deep RNA analysis to map PTLS biology across different ages, building the data our researchers need to move closer to treatment.

Genetic mapping in PTLS has been done before.
But this goes further.

DNA shows the blueprint.
Deep RNA analysis shows what is actively happening in the body, which genes are switched on or off, which biological pathways are disrupted, and how PTLS behaves across development.

Over the past year, we’ve analysed 20 pre- and post-pubescent PTLS patients, using AI to map biological patterns and model them against existing compounds to estimate potential treatment responses.

We are now awaiting the data.

And this entire first phase was made possible by the funds raised on PTLS Day last year.

Because of you, we didn’t just talk about research.
We funded it.

Now comes the next phase:
Testing compounds.

Moving from biological mapping to evaluating which treatments may actually shift outcomes.

That step requires more funding.
It requires continued momentum.
And it requires all of us.

We have progress.
We have direction.
Now we need to accelerate.

Let’s keep going. 💚

Research Participation Opportunity ‼️

Biomarkers can help doctors and scientists diagnose diseases and health conditions, monitor responses to treatment and see how a person’s disease or health condition changes over time.

Dr. Davut Pehlivan, of Baylor College of Medicine in Texas, is enrolling for a Clinical and Molecular Biomarker Studies in RAI1 Related Disorders including Potocki Lupski Syndrome (PTLS).

The goal of this observational and laboratory study is to develop clinical, neurophysiological and molecular biomarkers in RAI1-related disorders. The primary goals (or endpoints) of the study are to:
· Characterize the disease features more precisely and analyze the differentiating and overlapping features of RAI1-related disorders (Smith-Magenis syndrome and Potocki-Lupski Syndrome).
· Identify clinical, neurophysiology, and laboratory biomarkers that differentiate RAI1-related disorders one from another.

Reach out to us if you are interested in enrolling. You can find the biomarker link in our bio!