Schedule

Meet and greet reception. We’ll gather together to kick-off the 2026 Conference and have some informal ice breakers to help everyone get to know each other.

Hear about the PURA Syndrome Foundation’s progress on our strategic goals; including our research focus, partnerships, and an update on the PURA registry.

This session will provide an overview of the registry and biobank efforts currently underway across the global PURA community. We’ll discuss what types of data and samples are being collected, how researchers are accessing and using them to advance our understanding of PURA syndrome, and what the Foundation is doing to make participation easier and more accessible for families worldwide.

Most importantly, this session is for you. We want every family to feel informed and empowered to decide how they participate. You’ll learn what’s involved, how your privacy is protected, and why your contribution — whether completing a registry questionnaire or providing a biological sample — can directly shape the future of PURA research and therapeutic development.

PURA Germany, PURA Poland

Jack’s Tomorrow, PURA Australia

The 2026 update to the GeneReviews for PURA-related neurodevelopmental disorders has been reported by an international group of contributors, including clinicians, scientists, and advocates. GeneReviews are expert-written summaries that bring together what has been reported about a condition in the medical literature, helping guide diagnosis, management, and genetic counselling. They provide a shared reference for Foundations, families, clinicians, and researchers globally. This presentation will highlight key clinical insights and reported data from the updated GeneReviews, including current approaches to diagnosis, management, and genetic counselling in PURA-related neurodevelopmental disorders.

We used human induced pluripotent stem cells (iPSCs) to grow brain organoids of a few millimetres in size. This allowed us to investigate the role of PURA in brain development. Our findings suggest that PURA assists stem cells in making the correct decisions during their transition into mature nerve cells. We’ll discuss the potential implications of these results for patients with PURA syndrome and for possible therapeutic approaches.

In the landscape of rare neurogenetics, a diagnosis is often mistaken for a destination. At Apexa QLA Suisse, we recognize it as the initial site survey. Our clinical philosophy is built on the premise that a genetic diagnosis defines the starting point, not the ceiling. We transition away from passive patient management, viewing the child’s neuro-biological profile as a dynamic system primed for structural optimization.

Leveraging longitudinal insights from a globally significant cohort of more than 10 children with PURA syndrome—who attend our center for interventions ranging from consistent weekly sessions to targeted monthly intensive cycles—we have documented a trajectory of consistent progress. In this 30-minute clinical overview, Co-Founder Fabienne Theler deconstructs the O.R.C.A. (Objective Reasoning & Clinical Architecture) method: a proprietary framework anchored in advanced clinical reasoning. This methodology strategically integrates a multi-modal toolkit—encompassing DMI, TASES, NISE-Stim, Galileo vibration, and a diversified range of specialized neuro-interventions—to optimize neuro-motor pathways and facilitate measurable functional gains.

By integrating our interdisciplinary team with families as co-therapists, we are establishing an elevated standard for clinical care that translates into an enhanced quality of movement and daily participation. This session provides a transparent insight into the strategic framework and clinical reasoning currently driving these outcomes.

Despite knowing the genetic cause of PURA syndrome for more than a decade, we still don’t understand why seizures occur. In this talk, I will outline how we are using a mouse model to investigate what goes wrong in the brain to trigger seizures in PURA syndrome. I will begin by discussing insights gained from other mouse models based on different genes, and how these have helped us uncover mechanisms that drive seizures—insights that may ultimately inform therapeutic strategies. I will then provide an update on the PURA syndrome mouse model, including evidence that it experiences seizures and other relevant symptoms. From there, I will describe how we plan to use this model to better understand why seizures arise in PURA syndrome. Finally, the talk will highlight the broader challenges of determining how disruption of a transcription factor alters brain function, and why this makes understanding PURA syndrome particularly complex

Translational research is the process of turning observations from the laboratory, clinic, and community into interventions—such as diagnostics, therapeutics, and medical procedures—that improve health. This is your chance to Ask Anything to doctors currently treating and managing care for people with PURA and the people driving research on PURA Syndrome and the potential treatments for the issues associated with PURA. We want you to walk away from the conference feeling well informed on the types of research being done and treatments that are being explored, what we as a community need to do to be clinical trial ready, and the ways to get involved.

A more positive approach to intellectual disabilities with Stephen Unwin. Stephen is an experienced British theatre director and author. He is also the father of a young man with severe intellectual disabilities and the author of BEAUTIFUL LIVES: HOW WE GOT LEARNING DISABILITIES SO WRONG (2025)

Significant speech and language challenges in PURA syndrome can impact individuals’ ability to ask for basic needs, to explain pain and indicate the need for medical support, and can impact learning at school. No studies have previously examined speech and language in a systematic manner, nor use standardised or formal assessments to delineate between speech and language diagnoses. Currently, our understanding of PURA syndrome lacks a clear delineation between motor-based speech disorders (e.g., speech apraxia) compared to cognitive-linguistic impairments. These distinctions are crucial, as without accurate diagnoses, parents and clinicians remain unsure about what therapies to implement. Our research aims to characterize the speech and language abilities of individuals with PURA syndrome, and in doing so will: (1) provide a clearer diagnosis, prognosis and treatment planning for families and clinicians, and (2) provide data to inform future speech and language outcome measures necessary for clinical trial readiness. This research has been completed through the Murdoch Children’s Research Institute and University of Melbourne and has been supported by a PURA Foundation Australia Research Grant.

Please RSVP by clicking here

Total duration:
Onsite program: approx. 2 hours
Travel time: 45–60 minutes each way

Visit the Helmholtz Center Munich! The Munich region is home to several renowned research institutions. In addition to two leading universities — Ludwig-Maximilians University and the Technical University of Munich — and a few Max Planck Institutes, it also hosts Helmholtz Center Munich, a world‑class hub for biomedical research. The research team of Prof. Niessing operates one of its two laboratories on this campus and is delighted to offer a guided tour.

When will the visit take place? Sunday afternoon, following the official closing of the Annual PURA Conference.

Where will it take place? The tour will be held at Helmholtz Center Munich, located in the northern part of the city. Participants will travel there by shuttle bus.

What will you experience? Helmholtz Center Munich is home of about 2,500 employees working across a diverse range of biomedical research programs. Your visit will begin with an introduction from our PURA researcher, who will share insights into current PURA‑related scientific work.

Afterward, you will join a guided tour in small groups, giving you an inside look at active laboratories where real PURA research is conducted. The tour continues to the Biobank facility, which houses several thousand patient samples — including biosamples from the PURA Biobank. You will have time to ask questions, connect with our local PURA scientists, and gain a deeper understanding of the research environment. Following the tour, the shuttle bus will return you to the conference venue.