Promoting scientific research that leads to a better understanding of Potocki Lupski Syndrome & potential treatments.

We believe that hope speaks the language of possibility, and rare is hope into ACTION, that’s why we are committed to advancing scientific research towards a potential treatment for Potocki Lupski Syndrome. Join us in our mission to advance medical science and be one of the first groups to treat a genetic syndrome with cutting edge, groundbreaking medical scientific technology.

Hope, it’s in our genes!

Shop for a Cause: The Merch Store

Explore the PTLS Hope Merch Store, your one-stop shop for stylish merchandise that supports a great cause! Here, every purchase you make directly contributes to research initiatives aimed at finding treatments for Potocki-Lupski Syndrome (PTLS).

What makes our store unique is that we handle everything in-house, ensuring that 100% of the proceeds go towards our research efforts. By eliminating third-party sellers, we maximize the impact of your contribution and make sure that more funds are allocated where they're needed most.

Faces Behind the Cause: Uniting Passion and Purpose for Change

Meet our dedicated team pursuing hope - driven by the belief that every challenge presents an opportunity for innovation and progress. Our interdisciplinary team of passionate scientists, clinicians, and researchers is united by a singular mission: to pioneer the path towards effective treatments for Potocki Lupski Syndrome.

Unlocking Hope: Exploring Treatment Innovations

Delve into the forefront of scientific exploration aimed at conquering Potocki Lupski Syndrome. Our team is devoted to pioneering diverse methods and innovative approaches in the quest for effective treatments.

Cheers to the unsung heroes who selflessly give their all, every single day. Today we would like to mention and celebrate the extraordinary love and resilience of mothers who walk this PTLS journey. Your strength, patience, and unwavering devotion in
Cheers to the unsung heroes who selflessly give their all, every single day. Today we would like to mention and celebrate the extraordinary love and resilience of mothers who walk this PTLS journey. Your strength, patience, and unwavering devotion inspire us all. Happy Mother’s Day to the real MVPs! 💚
Milestone moments✨ Throwing it back to Jimena’s first steps💫! Countless hours of therapy and home exercises led to this beautiful milestone. Lots of tears were shed along the way, but these accomplishments mean the world.💚 Gross motor delays are common in kids with PTLS, which is why early intervention is critical. #ptls #potockilupskisyndrome #milestone #nevergiveup
Why share your story with us? Sharing our stories, experiences, and hardships is one of the most effective ways to connect with each other. Hearing your story could help someone else open up about their own challenges or journey. 💚❤️‍🩹 Email
Why share your story with us? Sharing our stories, experiences, and hardships is one of the most effective ways to connect with each other. Hearing your story could help someone else open up about their own challenges or journey. 💚❤️‍🩹 Email them to info@ptlshope.org
Continuing our “Quotes of Hope” series! 💫 Today we have Lucia, mom to Jimena (2.5yrs old): “Research is fundamental in order to provide our kids with the best life. Hope is what fuels us to pursue it” 💚
Continuing our “Quotes of Hope” series! 💫 Today we have Lucia, mom to Jimena (2.5yrs old): “Research is fundamental in order to provide our kids with the best life. Hope is what fuels us to pursue it” 💚
Meet the Team 🧬 🔬 Dr. Pehlivan is an Assistant Professor in the Department of Pediatrics/Neurology at Baylor College of Medicine (BCM). He graduated from University of Istanbul and completed his genetic residency training at the same institute. H
Meet the Team 🧬 🔬 Dr. Pehlivan is an Assistant Professor in the Department of Pediatrics/Neurology at Baylor College of Medicine (BCM). He graduated from University of Istanbul and completed his genetic residency training at the same institute. He then moved to United States of America and joined the laboratory of Dr. James Lupski at BCM to study identifying genetic etiologies of many neurological conditions. He completed his second residency in Child Neurology at BCM. He is a physician scientist at Texas Children’s Hospital and working on genetic-based treatments for neurogenetic disorders. He has co-authored over 110 articles and received numerous awards from national/international organizations. We are honored and excited to have Dr. Davut’s expertise and passion driving our efforts forward.
Introducing our ‘Quotes of Hope’ series! 💚 It’s a heartfelt nod to National Hope Month and our ongoing mission. Each picture features a Hope quote from our PTLS community, showing resilience, bravery, and determination. As we face
Introducing our ‘Quotes of Hope’ series! 💚 It’s a heartfelt nod to National Hope Month and our ongoing mission. Each picture features a Hope quote from our PTLS community, showing resilience, bravery, and determination. As we face challenges, we stay strong, powered by hope. Together, we keep pushing ahead to find treatments for Potocki Lupski Syndrome and spread awareness. Mandy’s quote: “Everything seems impossible until it’s done. If we don’t try, it won’t ever happen. Hope is so important to us”. #HopeMonth #PTLSCommunity #ptlshope #potockilupskisyndrome
Cheers to the unsung heroes who selflessly give their all, every single day. Today we would like to mention and celebrate the extraordinary love and resilience of mothers who walk this PTLS journey. Your strength, patience, and unwavering devotion in
Milestone moments✨ Throwing it back to Jimena’s first steps💫! Countless hours of therapy and home exercises led to this beautiful milestone. Lots of tears were shed along the way, but these accomplishments mean the world.💚 Gross motor delays
Why share your story with us? Sharing our stories, experiences, and hardships is one of the most effective ways to connect with each other. Hearing your story could help someone else open up about their own challenges or journey. 💚❤️‍🩹 Email Continuing our “Quotes of Hope” series! 💫 Today we have Lucia, mom to Jimena (2.5yrs old): “Research is fundamental in order to provide our kids with the best life. Hope is what fuels us to pursue it” 💚 Meet the Team 🧬 🔬 Dr. Pehlivan is an Assistant Professor in the Department of Pediatrics/Neurology at Baylor College of Medicine (BCM). He graduated from University of Istanbul and completed his genetic residency training at the same institute. H Introducing our ‘Quotes of Hope’ series! 💚 It’s a heartfelt nod to National Hope Month and our ongoing mission. Each picture features a Hope quote from our PTLS community, showing resilience, bravery, and determination. As we face

Exploring Hope:

At PTLS Hope Research Foundation, we're committed to driving positive change through research, discovery, and advocacy. By following us, you'll not only stay informed about the latest advancements in PTLS research but also become part of a supportive community dedicated to making a difference. Share your voice, spread awareness, and join us in empowering individuals and families affected by PTLS. Together, through the power of social sharing, we can amplify our impact and create a brighter future for all. Join us today and be a catalyst for change!

The Potocki Lupski Syndrome global patient registry

Contact Us

Feel free to contact us directly with any questions, we are here to help!

Our Partners & Collaborators

“Our team is united by a common goal, to improve the lives of individuals affected by Potocki Lupski Syndrome.”
— Sarah H. Elsea PH.D., FACMG