Upcoming Events
Join us for a series of exciting in-person events around the world, as well as virtual gatherings designed to bring our community closer together! These events, organized in collaboration with various organizations and support groups, include family support Zoom calls and live Q&A sessions with leading doctors and scientists. Whether you’re attending in person or joining us online, we’re working together to provide valuable insights, resources, and a strong sense of connection—no matter where you are!
World PTLS Day!
Celebrate World PTLS Day – March 8th
Join us on March 8th as we come together to honour World PTLS Day, a day dedicated to raising awareness for Potocki-Lupski Syndrome (PTLS) and celebrating the strength of individuals and families impacted by this rare genetic disorder.
This special day is an opportunity to:
Raise Awareness: Help shine a light on PTLS, its challenges, and the need for research.
Celebrate Progress: Highlight the advancements in PTLS research, including our groundbreaking drug discovery/ development programs and ASO gene Therapy initiatives.
Share Stories of Hope: Uplift the voices of families and individuals living with PTLS to inspire compassion and understanding.
Here’s how you can get involved:
Wear Green: Show your support by wearing the official PTLS awareness colours.
Share on Social Media: Use the hashtag #ptlshope to spread awareness and share why this cause matters to you.
Donate: Contribute to ongoing research efforts and help us get closer to developing life-changing treatments for PTLS.
At the PTLS Hope Research Foundation, we’re dedicated to turning awareness into action. With your help, we can fund critical research, advocate for better resources, and create a future filled with hope for individuals with PTLS.
Let’s make March 8th a day of unity, progress, and celebration. Together, we can change lives!
Learn More and Get Involved - info@ptlshope.org
Join Us at the Rare Disease Day Bridge Event!
Where: Texas Children’s Hospital, Texas, USA
When: 27th & 28th February 2025
We’re excited to return for our second year at the Rare Disease Day Bridge Event at Texas Children’s Hospital! The PTLS Hope Research Foundation will once again have a table where we’ll be sharing information, goodies, and our mission to create a brighter future for families impacted by Potocki-Lupski Syndrome (PTLS).
Stop by to:
Learn about Potocki-Lupski Syndrome and the important research initiatives we have in the pipeline, including drug Development /discovery, the Clinical Bio Marker Study & a Potential ASO Therapy.
Grab some goodies and materials to help raise awareness and educate others about PTLS.
Chat with the PTLS Hope team—and you might even run into Dr. Potocki herself!
We’re honoured to participate in this incredible event for the second year, connecting with the rare disease community and sharing our vision for advancing research and creating meaningful change.
Join us to learn, connect, and help spread hope for the PTLS community!
Clinical Bio-Marker Study Q&A with Dr Phelivan
As we step into 2025, PTLS Hope Research Foundation is excited for what is looking to be an incredible year of progress for the PTLS community!
We’re thrilled to announce the Biomarker Study at Texas Children’s Hospital in Houston, Texas, aimed at identifying clinical and laboratory biomarkers to guide future genetic-based treatments is finally accepting its first patient!
We will be holding a Q&A session with Dr. Pehlivan on Date - TBC. Please send your questions in advance and we will make sure to get them answered. It will be a recorded zoom, so if you cannot make it we will share the link.
Biomarker Study Accepting FIRST PTLS Patient
This two-day study includes a physical exam, blood and skin biopsy(optional), and an overnight sleep study. Enrollment is limited to 20 PTLS and 20 SMS individuals of all ages with a confirmed RAI1 mutation.
While this study is not therapeutic, it plays a vital role in paving the way for future clinical trials. If you’re interested and meet the eligibility criteria, we encourage you to consider participating in this important research effort. Your involvement could make a significant difference in advancing treatments for PTLS and related disorders. Contact us at info@ptlshope.org for more info.
what are Bio-Markers? The broad definition of a genomic biomarker as a characteristic that can be objectively measured and evaluated as an indicator of normal biological or pathogenic processes as well as pharmacological responses to a therapeutic intervention.
Community Zoom Q&A with Dr Treadwell-Deering and Dr Lorraine Potocki
Dr. Treadwell-Deering, one of the authors of the medical paper "Cognitive and Behavioral Characterization of the Potocki-Lupski Syndrome," will share insights from her research and experience in dealing with rare genetic conditions. Together with Dr. Potocki and Dr. Pehlivan, they will discuss the latest findings, address common challenges, and answer your questions.
PTLS UK Family Gathering
You're Invited!
Join us for the PTLS UK Family Gathering in Manchester, England on November 2nd, 2024, at 1:00 PM (GMT)
We’ll be coming together at The Parish Church of St. Nicholas, located at Kingsway Burnage, Manchester (M19 1PL). This is a wonderful opportunity for families and friends within the PTLS community to connect, share experiences, and offer support in a warm and welcoming environment.
For more information or to confirm your attendance, please reach out to Roz Wareing or Gemma McLaughlin through the UK Facebook support group. (find the link here https://www.ptlshope.org/facebook-parent-community )
We look forward to seeing you there!
October Virtual Family Gathering
You're warmly invited to our next Virtual Family Gathering hosted by our FB Family Support group founder Shelly Kroetch, happening on October 26th, 2024, at 8:00 AM Pacific Time! We’re excited to bring our community together once again for a special time of connection, support, and sharing updates. This gathering is a chance for families and friends to join from all over the world, offering a safe and welcoming space for meaningful discussions and mutual encouragement.
Whether you’ve attended before or this will be your first time, we’re looking forward to spending this time with you. To ensure you join us at the right time in your time zone, please check the time using this link - https://time.is/compare
Zoom Details:
Join the meeting on October 26th
Meeting ID: 885 7585 5589
Passcode: 073864
Mark your calendars, and we can’t wait to see you there! 💚
Virtual Interview with Dr. Potocki and Dr. Pehlivan
Join us for this informative chat hosted by Lucia Suazo of PTLS Hope Research Foundation. She will be interviewing both Dr. Potocki and Dr. Pehlivan, where we will ask questions that have been pre sent by our community via our FB Family Support group page.
Mics will be off for attendees during the first portion of the call, but chat will be monitored.
During the second portion of the call, we will open it up to an informal discussion, with live questions from the attendees.
(to join the FB group navigate to the ‘Our Community’ section above and find the link there)
Register for the call via the link below