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

Hope, it’s in our genes!

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.

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!

Thank you to everyone who donated, started fundraisers and shared this with their friends and family! We brought in a whopping $18k yesterday💚! We still have a long ways to go and need all the help we can get! Please consider donating or sharing t
Thank you to everyone who donated, started fundraisers and shared this with their friends and family! We brought in a whopping $18k yesterday💚! We still have a long ways to go and need all the help we can get! Please consider donating or sharing this fundraiser with others☺️ Thank You!
We are fundraising to support an incredible drug discovery program for Potocki-Lupski Syndrome. This program is a chance for us to find a medication that could change lives — and we need your help to make it happen. Our goal is to raise $70,00
We are fundraising to support an incredible drug discovery program for Potocki-Lupski Syndrome. This program is a chance for us to find a medication that could change lives — and we need your help to make it happen. Our goal is to raise $70,000 to fund the research that will help children and adults who are living with PTLS. Every donation, no matter how big or small, makes a difference. Please consider donating and sharing with your friends and family! Thank you for your support — we can’t do this without you! To learn more go to ptlshope.org 💚 Donate Link in our bio #PTLSHope #RareDisease #HopeForPTLS #ChangingLives
This Thanksgiving, we are overflowing with gratitude for our incredible PTLS community. To our friends, family, caregivers, researchers, doctors, and supporters—thank you for the love, hope, and dedication you bring every day. Together, we are
This Thanksgiving, we are overflowing with gratitude for our incredible PTLS community. To our friends, family, caregivers, researchers, doctors, and supporters—thank you for the love, hope, and dedication you bring every day. Together, we are stronger.💚
Tomorrow is our November PTLS virtual gathering with @ptlscommunity This is a wonderful opportunity to connect, share experiences, and support one another in an informal and welcoming space. Whether you’re new or have been with us for a while, we’d love for you to join us and meet others who understand what it means to be part of the PTLS Family! Also- we will be sharing some exciting news and developments that you wont want to miss!
Exciting news! 🎉 Our co-founder, Mandy, has been invited to speak at the MENA Congress for Rare Diseases @mena_rare_diseases next April in Abu Dhabi! She’ll be sharing her personal journey and experiences with Potocki-Lupski Syndrome (PTLS), s
Exciting news! 🎉 Our co-founder, Mandy, has been invited to speak at the MENA Congress for Rare Diseases @mena_rare_diseases next April in Abu Dhabi! She’ll be sharing her personal journey and experiences with Potocki-Lupski Syndrome (PTLS), shining a spotlight on this rare genetic condition, and helping to spread awareness. We couldn’t be prouder to have her representing our community on such an important stage. 💙 The MENA Congress is one of the largest events for rare diseases in the Middle East and North Africa, bringing together experts, healthcare professionals, and advocates from around the world to exchange knowledge and ideas. It’s an amazing opportunity to highlight PTLS and connect with others who are passionate about making a difference in the rare disease world. Stay tuned for updates as Mandy prepares to take the stage! 🌍✨
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💚
Thank you to everyone who donated, started fundraisers and shared this with their friends and family! We brought in a whopping $18k yesterday💚! We still have a long ways to go and need all the help we can get! Please consider donating or sharing t We are fundraising to support an incredible drug discovery program for Potocki-Lupski Syndrome. This program is a chance for us to find a medication that could change lives — and we need your help to make it happen. Our goal is to raise $70,00 This Thanksgiving, we are overflowing with gratitude for our incredible PTLS community. To our friends, family, caregivers, researchers, doctors, and supporters—thank you for the love, hope, and dedication you bring every day. Together, we are
Tomorrow is our November PTLS virtual gathering with @ptlscommunity This is a wonderful opportunity to connect, share experiences, and support one another in an informal and welcoming space. Whether you’re new or have been with us for a while
Exciting news! 🎉 Our co-founder, Mandy, has been invited to speak at the MENA Congress for Rare Diseases @mena_rare_diseases next April in Abu Dhabi! She’ll be sharing her personal journey and experiences with Potocki-Lupski Syndrome (PTLS), s 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💚

RAI1 (PTLS/SMS) Official 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