All times are Eastern Standard Time (EST).
• 12:00 – 12:30pm: Healx Drug Repurposing Program for PTHS, Dr. Ian Roberts, Dr. Elin Haf Davies, Dr. Karine Proulx & Dr. Anthony Hall
Healx is an AI-powered, patient-inspired technology company whose mission is to use artificial intelligence, Big Data and expert knowledge to identify and progress novel rare disease treatments at scale. Healx has combined its Healnet AI platform with drug discovery expertise and patient insight to identify existing drugs that can be redeveloped and combined to treat individuals with Pitt Hopkins Syndrome. In this presentation, we will discuss our recent work to design a decentralised clinical trial in collaboration with the technology company Aparito. We will explain the process that we have followed to select the symptoms to be assessed and the technology platform and the wearables that we propose to use to measure the impact of our drug candidates in individuals with PTHS. Meanwhile, at Healx we continuously improve our AI algorithms, Knowledge Graph and workflows to increase the likelihood of discovering new treatments for rare diseases, and PTHS in particular. Since our initial collaboration with the PHRF, we have developed three new methods for making drug predictions. We will also talk about how we intend to apply these approaches to PTHS to generate a second set of candidate drugs for preclinical testing. We are looking forward to your participation and will be seeking your thoughts and input into the study design through polling questions at the end of our presentation.
• 12:40 – 2:00pm: AAC at Home: Pitfalls to Avoid and Tips to Follow, Lauren Enders, SLP
When we consider that children spend the bulk of their time with their families and caregivers, it becomes clear that home is an essential learning environment for young AAC users. The challenge is, however, that parents and caregivers are not born knowing the best way to support language learning in their children who communicate with AAC. In this session, attendees will learn about the most common pitfalls in AAC implementation and how to replace those pitfalls with helpful, evidence-based practices. Key strategies as well as examples of ways to incorporate AAC modeling into home routines will be provided. Time will be allotted at the end of the session for a question and answer period. Those who attend will be leave with a digital resource containing links to helpful resources.
• 2:00 – 3:00pm: The Struggle is Real: A conversation among Spanish-speaking families
La Lucha es Real: Una conversación entre familias hispano hablantes
The number of Spanish-speaking families of individuals diagnosed with Pitt Hopkins continues to grow across the world. Yet, families oftentimes struggle to find accessible support and information relative to their own needs. In this session, via a moderated panel discussion that includes four Hispanic/Latino families, we will address key questions arising in the medical, educational, and home care of our Pitt Hopkins children. In this way, we hope to bridge the language and cultural barriers that sometimes can affect the flow of valuable information and support.
El número de familias hispano hablantes con niños y adultos diagnosticados con Pitt Hopkins continua creciendo alrededor del mundo. Sin embargo, familias muchas veces luchan con la necesidad de encontrar información y apoyo en español relativo a sus necesidades. En esta sesión, y con ayuda de un panel de cuatro familias hispano hablantes, tendremos una conversación acerca de temas importantes relacionados al cuidado médico, educacional y del hogar de nuestros niños y niñas con Pitt Hopkins. De esta manera, esperamos reducir la brecha lingüística y cultural que muchas veces afecta el flujo de información y apoyo entre nuestra comunidad global de Pitt Hopkins.
• 8:00 – 9:00pm: After hours Pitt Parent fun! Join us for a virtual happy hour!
Grab your beverage of choice and join us for a relaxed open discussion. This session will be focusing on making connections, asking questions, sharing stories, finding the joy in this journey, and having fun! We can’t wait to get together! Cheers!
