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Our upcoming events will bring together families affected by PDE to share their experiences and support one another. We will also provide opportunities for families to engage with the research community, fostering a deeper understanding of this rare disease.
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We are excited to announce the launch of our webinar series, where experts in the field will delve into cutting-edge research and advancements in PDE.
At CurePDE, we are dedicated to uniting families and researchers to create a thriving community and advance knowledge about Pyridoxine-Dependent Epilepsy (PDE).
We look forward to creating a vibrant and supportive community through our upcoming events, and we encourage you to stay tuned for updates on our website and social media channels. Together, we can make a difference in the lives of those impacted by PDE. Sign up below to be notified of new and upcoming events.
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For researchers and healthcare professionals, these events will be an invaluable opportunity to exchange ideas, share the latest research findings, and work towards finding new treatments and ultimately a cure for PDE.
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Big news, everyone! We’re putting together the very first face-to-face meet-up for the PDE community – that’s us, the researchers, advocates, and all you amHello Cure PDE Community, We are excited to invite you to our second CurePDE Family Retreat, which will take place in Aurora, Colorado (Denver area), near the University of Colorado Anschutz Medical Campus.
📍 Highlights of the Retreat
Lab Visit & Tour – On Saturday, October 4th, Dr. Curtis Coughlin, a leading PDE researcher, will welcome us to the Coughlin Lab and share insights about the groundbreaking research being conducted.
Family Gatherings – CurePDE will be hosting one lunch and two dinners, providing opportunities for families to connect, share experiences, and ask questions in a supportive environment.
We look forward to seeing you in Colorado and sharing this meaningful weekend together.
register interest HERE
CurePDE Family Retreat - October 2025
Hampton Inn Aurora Medical Center
2556 Oswego St, Aurora, CO 80010
Phone: (303) 238-4430
Richard Novak, the CEO of Unravel, will present an overview of the Unravel Study — its goals, progress, and what this means for our shared mission to decode and cure PDE.
no recording available
September 2025 Webinar - Drug Repurposing Study Results with Richard Novak
Unraveling complexity, from patient to therapy.
Richard Novak, PhD
CEO & Co-FOUNDER
In this webinar, the group welcomes a new family, shares merch and fundraising progress (~$30k, foundation match), gives research updates (mouse drug trial timed to the October Colorado retreat; newborn-screening momentum in Belgium/Canada; meet PhD student Nicole), demos lysine-tracking resources/AI tips, and locks in retreat logistics (housing, meals, possible lab tour) while celebrating family wins.
watch the webinar
August 2025 - Monthly CurePDE Webinar
We’re thrilled to welcome Dr. Coughlin back to give us a summary of the recent research on Vitamin K’s role in PDE, and more importantly to discuss his exciting work supported by Cure PDE Foundation.
watch the webinar
May 2025 Scientific Webinar with Curtis Coughlin
Join us for a deep dive into the mechanisms of energy metabolism in PDE, where Dr. Andrews will share recent insights into how metabolic disruptions may play a role in disease progression and management.
No recording available
April 2025 Webinar - Energy Metabolism in PDE with Dr. Andrews
We’re honored to welcome Dr. Phillip Pearl, a leading expert in pediatric neurology, who will share insights from his experience with gene therapy for Aromatic L-Amino Acid Decarboxylase (AADC) deficiency. His work provides valuable perspectives on how gene therapy could be applied to PDE in the future.
watch the webinar
March 2025 Scientific Webinar with Dr. Pearl on Gene Therapy
Explore how Unravel analyzes rare disease patients’ needs to identify existing drugs with potential to improve their lives. Learn about this innovative approach to drug discovery and its implications for the rare disease community.
watch the webinar
February 2025 - New Dietary Guidelines for Pyridoxine-Dependent Epilepsy (PDE) with Marjorie Dixon.
Explore how Unravel analyzes rare disease patients’ needs to identify existing drugs with potential to improve their lives. Learn about this innovative approach to drug discovery and its implications for the rare disease community.
watch the webinar
February 2025 - Repurposing Existing Drugs for Rare Disease with Richard Novak
Unraveling complexity, from patient to therapy.
Richard Novak, PhD
CEO & Co-FOUNDER
Join Julia Taravella as she shares her extraordinary journey of founding the Rare Trait Hope Fund after her two children were diagnosed with aspartylglucosaminuria (AGU). Discover her progress toward developing a gene therapy cure and gain inspiration from her resilience and advocacy for her children.
watch the webinar
January 2025 - A Mother's Mission to Develop Therapeutics for Rare Disease
Casual Conversation Around Genetics led by Dr. Anna Sowa, PHD. Let’s kick off the series with an approachable and informative discussion about genetics. Whether you're new to the topic or looking to refresh your understanding, this session is for you!
watch the webinar
December 2024 - Casual Conversation Around Genetics led by Dr. Anna Sowa, PHD
In this webinar, longtime community member Alicia shares her life story with PDE, offering hope to parents by showing what’s possible into adulthood. She talks about growing up, raising her daughter, living independently, and connecting with others in the community for the first time.
watch the webinar
November 2024 - Community Webinar with Alecia
Big news, everyone! We’re putting together the very first face-to-face meet-up for the PDE community – that’s us, the researchers, advocates, and all you amazing families dealing with Pyridoxine-Dependent Epilepsy. This get-together is happening on October 5th-6th in Dallas, TX. It’s going to be a great chance for all of us to connect, share stories, and chat about how we can push forward in our fight against PDE.
register interest HERE
2024 - First In-Person PDE Community Meeting in Dallas, TX!
In this webinar, Dr. Phillip Pearl gives a fast history-to-now overview of pyridoxine-dependent and other B6-responsive epilepsies—what they are, how they’re diagnosed, and current treatments (B6/P5P, lysine-restriction + arginine). He also previews emerging targeted therapies and answers family questions about care, outcomes, and finding specialists.
watch the webinar
September 2024 - Dr. Phillip Pearl
Join us for a webinar where we'll discuss practical strategies for managing PDE during illness, tips to avoid ER visits, and how to advocate for your child's needs in the ER. Learn from our experience, including the benefits of having a letter for ER staff with important steps to follow. Don't miss this chance to gain valuable insights and connect with others who understand your journey.
No recording available
August 2024 - Managing PDE During Illness, Led by Libby Hopton
In this webinar, Dr. Curtis Coughlin introduces the IN-TIME grant, focused on faster diagnosis and clear outcome measures for treatable metabolic epilepsies.
watch the webinar
July 2024 - IN-TIME Explanation by Curtis Coughlin
Leah will share the story of her son, Jack, and their journey with PDE. From the initial diagnosis to the ongoing challenges and triumphs, Leah will discuss how Jack's feelings towards his diagnosis have evolved. She will also touch on the importance of laboratory tests and her extensive advocacy work with organizations like Global Genes, EveryLife Foundation, and GeneDx.
watch the webinar
July 2024 - Community Webinar with Leah Trotter
This community-focused event will be hosted by Connie Zong, MD, a dedicated parent of Henri, 8 with PDE. Connie specializes in internal medicine and will be discussing similar healthcare conditions shared amongst PDE patients, such as torticollis, strabismus, ADHD and other common health challenges.
watch the webinar
June 2024 Webinar- Common health conditions family webinar with Connie Zong
Sidney M. Gospe, Jr MD, a renowned expert in the field, will discuss the different clinical phenotypes of the three forms of PDE, with a primary focus on PDE-ALDH7A1. This session is ideal for those who want to learn a little more about the science behind PDE. While this webinar will focus on clinical phenotypes, there will be limited discussion on management strategies.
watch the webinar
May 2024 Webinar- Scientific
Webinar with Dr. Sid Gospe
Jennifer Conrad joins us in April 2024 to discuss how they managed her daughter's diet throughout the years.
watch the webinar
April 2024 Webinar- Community Webinar on Diet for PDE
In this webinar, families plan an in-person PDE retreat (Dallas) to organize patient-led advocacy—especially newborn screening—while strengthening community support. They discuss format (hybrid vs. onsite), travel funding (fundraisers/GoFundMe, T-shirts), childcare/logistics, and parent education with guidance from Dr. Curtis Coughlin.
watch the webinar
March 2024 Webinar- Family
Retreat Planning
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Overview
Welcome to CurePDE - we are a family that wants to help other families understand PDE through connection and education. If you're a family member seeking answers about this rare disease, you're in the right place. Let's begin by unraveling the fundamentals of PDE to empower you with knowledge and hope. We are also always looking for contributors and feedback. If you are a researcher, student, or just interested in PDE, please feel free to submit content to our site. This information was last updated September 20th, 2023 and is based on the references sited.
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