PTLS Hope Research Foundation

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!

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. 💪🌍

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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

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.