PTLS Hope Research Foundation

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The Potocki Lupski Hope Research Foundation is a nonprofit organization dedicated to advancing research for individuals and families affected by Potocki-Lupski Syndrome (PTLS) Promoting scientific research that leads to a better understanding of Potocki Lupski Syndrome & potential treatments, as well as raising awareness globally & creating resources to empower parents on their rare journeys.

Biomarkers are characteristics of the body that you can measure. So your blood pressure, for example, is a biomarker.🔬Bi...
03/24/2026

Biomarkers are characteristics of the body that you can measure. So your blood pressure, for example, is a biomarker.

🔬Biomarkers are very important to medicine in general. Health care professionals and researchers use biomarkers to figure out a person’s risk of developing a disease, track disease progression, better predict the course of a disease, improve clinical trial design, and better assess the efficacy and safety of a treatment.

🥽In this post we explain what biomarkers are & the importance of them!

As always, we’ve created PTLS Awareness Day frames for families to share their PTLS superstars on social media and help ...
03/08/2026

As always, we’ve created PTLS Awareness Day frames for families to share their PTLS superstars on social media and help raise awareness for Potocki-Lupski Syndrome.

If you’d like one made for your child, simply send us a message and we’ll create one for you. 💚

💚 Today we come together as a global community to raise awareness for Potocki-Lupski Syndrome and to celebrate the incre...
03/08/2026

💚 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. 💚

Today we stand with the global rare disease community 💚On Rare Disease Day 2026 a day dedicated to raising awareness for...
02/27/2026

Today we stand with the global rare disease community 💚

On Rare Disease Day 2026 a day dedicated to raising awareness for the 300 million people living with a rare condition worldwide, we reaffirm our commitment to research, advocacy, and equity in care.

At the Potocki Lupski Syndrome Hope Research Foundation, we’re proud to support this movement, amplify voices, and fuel scientific progress that brings real hope to individuals and families navigating rare disease journeys.

Equity means fair access to diagnosis, treatment, support, and opportunity for everyone.

Today and every day, we raise awareness, push for change, and celebrate resilience. 💪🌍

💛

Beyond DNA: Why RNA MattersWhile DNA gives us the blueprint, RNA shows us what is actually happening inside cells, in re...
02/27/2026

Beyond DNA: Why RNA Matters

While DNA gives us the blueprint, RNA shows us what is actually happening inside cells, in real time.

And that’s critical for PTLS.

Through deep RNA analysis, we can identify which biological pathways are disrupted, how gene activity shifts across development, and how PTLS behaves at a molecular level in both pre-and post-pubescent patients.

This isn’t just mapping for understanding.
It’s mapping for action.

Using AI, we’re modelling RNA signatures against existing compounds to estimate potential treatment responses, accelerating the path toward targeted interventions.

The next phase, compound testing, depends on continued support through fundraising.

Research is no longer abstract.
It’s precise.
It’s strategic.
And it’s moving.

TreatmentDevelopment

These aren’t just photos.They are the reason the research matters.Every face in this carousel represents a child living ...
02/25/2026

These aren’t just photos.
They are the reason the research matters.

Every face in this carousel represents a child living with Potocki-Lupski Syndrome and a future we are working to change through advanced genetic research, deep RNA analysis, and AI-driven discovery.

This community is not waiting.
We are mapping biology.
We are funding breakthroughs.
We are building the data our researchers need to move closer to treatment.

This is personal.
This is urgent.
This is possible.

Please make a meaningful donation to fuel our research pipeline.

New diagnosis? Feeling overwhelmed?The best place to start is with community.Our global PTLS Parent Support Group run by...
02/23/2026

New diagnosis? Feeling overwhelmed?

The best place to start is with community.

Our global PTLS Parent Support Group run by has been active for over 14 years sharing therapy insights, school advice, medical experiences, and real-life support.

It’s where families find answers faster.

It’s where no one feels alone.

Join us, link in bio.

March 8th is World PTLS Day 💚At the Potocki Lupski Syndrome Hope Research Foundation, our mission is simple:Keep researc...
02/21/2026

March 8th is World PTLS Day 💚

At the Potocki Lupski Syndrome Hope Research Foundation, our mission is simple:
Keep research moving forward, faster.

Because for families living with Potocki-Lupski Syndrome, time matters.

Thanks to your support, we have already funded advanced, treatment-focused research. Now, we must ensure the momentum continues. A second phase is ahead and it will only move as quickly as it is funded.

Breakthroughs don’t happen from one-day donations.
They happen through sustained commitment.

Becoming a recurring monthly donor gives our foundation the stability to:
• Plan long-term research programmes
• Commit to the next phase with confidence
• Support the scientists working tirelessly behind the scenes
• Accelerate progress toward meaningful treatment options

Rare should never mean forgotten.
And progress should never pause.

This World PTLS Day, we invite you to stand with us — not just in awareness, but in action.

Monthly giving fuels momentum.
Momentum fuels treatment.
Treatment changes lives.

Join us. 💚

FundTheScience MonthlyDonor RareDiseaseResearch KeepResearchMoving

Did you know?We’re using advanced AI and deep RNA analysis to map PTLS biology across different ages, building the data ...
02/15/2026

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. 💚

📣 PTLS Awareness Day, March 8th is coming up.And that means it’s time to start kicking off our fundraisers 💚Potocki-Lups...
02/10/2026

📣 PTLS Awareness Day, March 8th is coming up.
And that means it’s time to start kicking off our fundraisers 💚

Potocki-Lupski Syndrome is rare, but for the families living with it, it’s a daily reality filled with unknowns, variability, and challenges. While many of our children share similar core characteristics, severity can differ greatly and today there is still no approved treatment. That’s why awareness and research matter so much.

Because of this community, last year’s fundraising helped us launch and complete a major AI-driven genetic and RNA research programme with PTLS participants, a critical first step toward understanding treatment pathways. That progress is real. And the next phase depends on continued support.

Whether it’s a school event, workplace fundraiser, community challenge, bake sale, run, swim, or something completely creative, every effort counts and every dollar moves research forward.

If you’re planning a fundraiser for PTLS Awareness Day, please let us know, we’d love to support you with ideas, materials, graphics, and planning help to make it successful.

Together, we are proving that a small community with determination, love, and hope can drive real scientific progress.

Let’s get started 💚

It is Smith Magenis Awareness Day!!! Thank you for participating and helping to raise awareness for SMS. Go to https://w...
11/17/2025

It is Smith Magenis Awareness Day!!! Thank you for participating and helping to raise awareness for SMS. Go to https://www.prisms.org/awareness/sms-awareness-day/ or visit the PRISMS Inc. page for more resources and ways you can help spread the word about Smith Magenis Syndrome!

For context, Potocki-Lupski Syndrome (PTLS) and Smith-Magenis Syndrome (SMS) are like opposite versions.
They both happen in the same small section of chromosome 17.
In SMS, a tiny piece is missing.
In PTLS, that same piece is duplicated.

Research Participation Opportunity ‼️Biomarkers can help doctors and scientists diagnose diseases and health conditions,...
09/15/2025

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!

Address

Austin, TX

Website

https://www.ptlshope.org/checkout/donate?donatePageId=65b26debc3b6960fefd4d46b

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