About our organisation

In the footsteps of the first families

We honour the pioneering families who first brought BPTF-associated neurodevelopmental syndrome into focus – those who built connection from isolation and knowledge from uncertainty. BPTF Families continues in their footsteps, creating a community grounded in learning, support, and discovery. Though the global footprint is still small today, the future will bring growth. By laying the foundation now, we ensure that every family who follows finds a place already prepared for them. And by embedding research and outcome-driven collaboration into our mission, we aim not only to support families – but to transform their futures.

Mission statement

To connect and empower individuals and families impacted by the BPTF-associated neurodevelopmental syndrome – sharing knowledge, supporting early diagnosis and care, and advancing research through collective advocacy.

Vision statement

A global community grounded in empathy, expertise, and lived experience – where families and researchers collaborate to transform the recognition, treatment, and lifelong support of the BPTF-associated neurodevelopmental syndrome.

Objectives

BPTF Families will:

  • Build a global community and network of individuals and families impacted by the syndrome caused by BPTF gene mutations, improving wellbeing through connection, shared experience, and mutual support.

  • Advance understanding and education by developing and sharing accessible resources - including a website, publications, media, conferences, and events – for families, clinicians, educators and the broader community.

  • Contribute to patient registries by collecting, collating, and sharing information (with consent and confidentiality) about individuals living with BPTF gene mutations, both formally and informally.

  • Support and promote clinical and translational research that contributes to earlier recognition, deeper understanding, and potential interventions for this syndrome.

  • Foster cross-condition collaboration and shared learning, particularly with other rare neurodevelopmental disorders, to broaden collective knowledge across diagnostic, therapeutic, and care pathways.

  • Ensure lived experience informs priorities across all stages of discovery and care – helping shape how BPTF haploinsufficiency is understood, identified, and responded to in both research and clinical settings.

BPTF Families Limited (‘BPTF Families') is in its establishment phase as a not‑for‑profit Patient Advocacy Organisation (PAO) representing the small‑but‑growing group of families worldwide who are touched by the BPTF‑associated neurodevelopmental disorder or syndrome, also known as ‘NEDDFLʼ.

We are registered with the Australian Securities and Investments Commission (ASIC) as a Company Limited by Guarantee, a structure commonly used by nonprofits and charities. We are currently progressing registration with the Australian Charities and Not‑for‑profits Commission (ACNC), the national charity regulator.

Although our legal footing is in Australia, our leadership spans multiple countries, and we uphold a global mandate to serve and represent all families affected by BPTF‑associated neurodevelopmental syndrome, worldwide.