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

We believe that hope speaks the language of possibility, that’s why we are committed to advancing scientific research towards a potential treatments 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!

Join Us in Changing the Future for Children with PTLS

We’re raising $70,000 to fund groundbreaking drug discovery research that could change the future for children with PTLS. Every donation brings us closer to identifying treatments that could help these children overcome their challenges and lead fuller, more empowered lives. Together, we can make a real difference—by supporting vital research that holds the potential to transform the lives of families affected by rare genetic conditions. Your contribution is an investment in hope and progress. Donate today and be part of this life-changing effort.

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.

Community Spotlight: Spreading PTLS Hope

Discover inspiring stories from our PTLS HOPE community as they raise awareness for Potocki Lupski Syndrome and support the PTLS HOPE Research Foundation. Learn how individuals and families are making a difference, sharing their journeys, and driving our mission forward through their dedication and advocacy. Join us in celebrating their efforts and spreading hope.

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!

Join our fundraising event with @coeurmoments ! From now until December 15th, use code PTLSHOPE at checkout to receive 10% off your order and we will donate 40% of each sale to PTLS Hope Research Foundation. ✨ Be the hope💚
Join our fundraising event with @coeurmoments ! From now until December 15th, use code PTLSHOPE at checkout to receive 10% off your order and we will donate 40% of each sale to PTLS Hope Research Foundation. ✨ Be the hope💚
Check out our PTLS Hope Calendar💚 Looking to get more involved in the community? Want to find a great support network? Have questions you’d like to discuss? Join one of our upcoming events! October 26- PTLS Virtual Family Gathering which is hosted by @ptlscommunity November 2- PTLS UK Family Gathering For more info and events details go to: www.ptlshope.org > Our community > Upcoming Events
Your story matters. 💚 Sharing your journey with Potocki-Lupski Syndrome can encourage, uplift, and create a community of strength for other families navigating similar paths. Send your story to info@ptlshope.org
Your story matters. 💚 Sharing your journey with Potocki-Lupski Syndrome can encourage, uplift, and create a community of strength for other families navigating similar paths. Send your story to info@ptlshope.org
Today is National Nonspeaking & Nonverbal Awareness Day. Join us in raising awareness, as well as celebrating and accepting all nonspeaking and nonverbal individuals. Let’s highlight the importance of understanding, inclusion and need for
Today is National Nonspeaking & Nonverbal Awareness Day. Join us in raising awareness, as well as celebrating and accepting all nonspeaking and nonverbal individuals. Let’s highlight the importance of understanding, inclusion and need for accessible communication methods for those who are nonverbal or nonspeaking.
Join us in making a lasting impact for individuals living with Potocki-Lupski Syndrome! 💚 By becoming a monthly donor, you’ll help fund critical research, provide support to families, and give hope for brighter futures. Every little bit helps
Join us in making a lasting impact for individuals living with Potocki-Lupski Syndrome! 💚 By becoming a monthly donor, you’ll help fund critical research, provide support to families, and give hope for brighter futures. Every little bit helps, and together, we can make a difference! 🙌 #PTLSHope #SupportRare #MakeADifference #MonthlyDonor
🗣️Pediatric occupational therapy helps children build the skills necessary to become independent and functional as they grow. 👣It is especially helpful for children who experience difficulties with daily activities due to physical, sensory, or co
🗣️Pediatric occupational therapy helps children build the skills necessary to become independent and functional as they grow. 👣It is especially helpful for children who experience difficulties with daily activities due to physical, sensory, or cognitive challenges. ✍️Occupational therapy is recommended to address difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and handwriting. ***Information gathered from the NIH, Little Land Play Therapy, and Healthcare University of UTAH. Official PTLS Hope Research Foundation.
Join our fundraising event with @coeurmoments ! From now until December 15th, use code PTLSHOPE at checkout to receive 10% off your order and we will donate 40% of each sale to PTLS Hope Research Foundation. ✨ Be the hope💚
Check out our PTLS Hope Calendar💚 Looking to get more involved in the community? Want to find a great support network? Have questions you’d like to discuss? Join one of our upcoming events! October 26- PTLS Virtual Family Gathering which is
Your story matters. 💚 Sharing your journey with Potocki-Lupski Syndrome can encourage, uplift, and create a community of strength for other families navigating similar paths. Send your story to info@ptlshope.org Today is National Nonspeaking & Nonverbal Awareness Day. Join us in raising awareness, as well as celebrating and accepting all nonspeaking and nonverbal individuals. Let’s highlight the importance of understanding, inclusion and need for Join us in making a lasting impact for individuals living with Potocki-Lupski Syndrome! 💚 By becoming a monthly donor, you’ll help fund critical research, provide support to families, and give hope for brighter futures. Every little bit helps 🗣️Pediatric occupational therapy helps children build the skills necessary to become independent and functional as they grow. 👣It is especially helpful for children who experience difficulties with daily activities due to physical, sensory, or co

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