Author: Josh

We have published a new summary of findings from the POU3F3/SNiBFiS family survey, based on responses from 37 families across Europe, North America, South America, Oceania, and the Middle East.

The survey adds an important family-reported perspective to the published literature. It highlights the wide range of outcomes seen in POU3F3-related disorder, while also showing several common themes across families, including sleep difficulties, gastrointestinal symptoms, constipation, sensory differences, motor challenges, and behavioral or emotional regulation issues.

It also reinforces an important point for families and clinicians alike: a genetic diagnosis can provide explanation, but it still does not reliably predict future abilities, medical course, communication profile, educational needs, or level of independence. At the same time, many families reported meaningful developmental progress over the years, underscoring that this is not a static condition.

The summary also includes findings related to therapies, medications, educational placement, and the kinds of day-to-day issues that can have a major impact on quality of life but are often underrepresented in the published literature.

You can read the full summary here: What We Have Learned From the POU3F3/SNiBFiS Family Survey.

We hope this resource helps families feel less alone, supports more informed conversations with clinicians and educators, and contributes to a stronger foundation for future natural history research.

We are pleased to share that the POU3F3 Foundation has joined CombinedBrain and Global Genes.

Becoming part of these organizations is an important step in strengthening our connection to the broader rare-disease community. These networks help create opportunities for collaboration, shared learning, advocacy, and visibility across rare neurodevelopmental and genetic conditions.

For the families and individuals affected by POU3F3-related conditions, we believe these relationships will help expand awareness, support community-building, and open additional pathways for research partnerships and long-term progress.

We are grateful to be part of this wider effort and look forward to learning from and contributing to the work being done across the rare-disease landscape.

We are pleased to share that the POU3F3 Foundation has officially received recognition as a tax-exempt public charity under Section 501(c)(3) of the Internal Revenue Code.

This milestone is an important step for our organization and for the families, researchers, and supporters working alongside us. 501(c)(3) status strengthens our ability to raise funds, build partnerships, and expand the work needed to support research, family resources, education, awareness, and long-term progress for individuals affected by POU3F3-related conditions.

It also means that eligible donations made to the foundation may be tax deductible in the United States, subject to applicable law and each donor’s individual tax situation.

We are grateful to everyone who has supported this effort and helped bring us to this point. We look forward to continuing to grow the foundation’s impact and advancing our mission with the community beside us.

We are pleased to share that Leticia Pías Peleteiro, MD, and Encarna Guillén Navarro, MD, PhD, have joined the Scientific Advisory Board of POU3F3.org.

Dr. Pías Peleteiro is a neuropediatrician at Hospital Sant Joan de Déu Barcelona with expertise in genetics and rare diseases. She brings direct clinical experience caring for children with complex neurodevelopmental and genetic conditions, adding valuable perspective to our work to support children and families affected by Snijders Blok-Fisher syndrome and other POU3F3-related conditions.

Dr. Guillén Navarro is a pediatrician and medical geneticist who serves as Head of the Genetics Area and Strategic Director of Únicas SJD at Hospital Sant Joan de Déu Barcelona. She leads work in genomic medicine and rare diseases and brings deep experience in clinical genetics, translational research, and rare-disease strategy that strengthens our foundation’s scientific direction.

We are honored to welcome both of them and grateful for their willingness to contribute their time, knowledge, and guidance to this effort. Their involvement will help strengthen our organization’s scientific foundation as we work to support research, family resources, education, collaboration, and long-term progress toward meaningful therapies.

We are pleased to share that Alison Schonwald, MD, FAAP, and Jae W. Lee, PhD, have joined the Scientific Advisory Board of POU3F3.org.

Dr. Schonwald is a nationally recognized leader in developmental and behavioral pediatrics with deep experience in early diagnosis, developmental screening, and care for children with neurodevelopmental conditions. Her clinical and educational leadership adds important perspective to our work to support children and families affected by Snijders Blok-Fisher syndrome.

Dr. Lee is a professor whose research focuses on gene regulation, developmental biology, and the molecular pathways that shape the developing brain. His scientific expertise strengthens our commitment to rigorous research and to building a stronger path toward future therapies for children affected by POU3F3-related disorder.

We are honored to welcome both of them and grateful for their willingness to contribute their time, knowledge, and guidance to this effort. Their involvement will help strengthen our organization’s scientific foundation as we work to support research, family resources, education, collaboration, and long-term progress toward meaningful therapies.

We are pleased to announce the establishment of POU3F3.org.

This site is being developed to support and advance research related to the POU3F3 gene and associated disorders, provide education and resources for affected individuals and families, promote awareness and understanding, and encourage collaboration among researchers, clinicians, and other stakeholders.

POU3F3.org is intended to grow into a trusted hub for information, updates, and connection. Over time, we hope to expand the site with research updates, family resources, opportunities for collaboration, and other materials that help strengthen this community.

We are grateful to everyone who cares about this work and look forward to building this effort together.