Potocki-Lupski Syndrome (PTLS) is a rare genetic disorder affecting approximately 1 in 20,000 individuals. This condition, caused by a duplication of genetic material on chromosome 17, results in a wide range of challenges, including developmental delays, intellectual disabilities, neurodevelopmental disorders, and physical health complications. For those diagnosed with PTLS, life is marked by ongoing medical needs, therapies, and significant uncertainty about the future.

Families caring for children with PTLS carry immense emotional, physical, and financial burdens, often with little guidance or support. Yet, there is hope — a future fueled by dedicated genetic research foundations and the promise of scientific breakthroughs that can change the trajectory of this rare syndrome. While progress has been made in understanding the genetic and clinical features of Potocki-Lupski Syndrome, much work remains to be done to unlock effective treatments and provide better outcomes for those affected. Unfortunately, the lack of funding and resources continues to hinder these efforts.

This is where your support becomes critical. Together, we can transform hope into action and make an impactful difference in the lives of individuals with PTLS. Your generosity will enable us to advance efforts in the following areas:

1. Funding Groundbreaking Research for Potocki-Lupski Syndrome

Your donation will directly fund research projects dedicated to Potocki-Lupski Syndrome, enabling scientists to delve deeper into the genetic basis of PTLS and explore cutting-edge therapies. This includes the development of potential genetic therapies and treatments, and participation in clinical trials for genetic disorders aimed at improving the quality of life for individuals with PTLS.

2. Increasing Potocki-Lupski Syndrome Awareness

Awareness is vital to drive progress. Your contributions will allow us to promote Potocki-Lupski Syndrome awarenesson a global scale, ensuring that healthcare providers, researchers, and the general public understand the challenges faced by families affected by PTLS. Greater awareness brings increased support, more focused research funding, and a stronger voice for advocacy within the medical community.

3. Encouraging Collaboration and Innovation

PTLS research thrives when we bring together researchers, clinicians, and support organizations. Your support will foster collaboration within the scientific and medical communities to ensure that discoveries are shared and translated into actionable treatments. By bridging gaps, we can fast-track progress in understanding PTLS and its related chromosomal duplication disorders, ultimately improving care and outcomes.

The Potocki Lupski Hope Research Foundation is dedicated to creating a brighter future for children and families living with Potocki-Lupski Syndrome. With your help, we can expand research into neurodevelopmental disorderslike PTLS, uncover research advances in genetic disorders, and move closer to effective solutions. Together, we can transform the uncertainty of this diagnosis into hope and progress.

Join us in the mission to improve the lives of those living with Potocki-Lupski Syndrome.