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1st In-Person NRXN1 Research and Family Conference

Posted On: March 03, 2026

The ASPE Team is grateful to have had the opportunity to connect with families and fellow researchers at the 1st In-Person NRXN1 Research and Family Conference, held February 20–22 in Philadelphia.

Nearly 40 ASPE trainees, PIs, and staff attended the Conference. Several ASPE PIs participated in the roundtable session, contributing to engaging discussions with fellow researchers and families.  ASPE Co-Directors also shared updates from ASPE during the conference.

Maja Bucan, PhD presented in Session 1: Human Genetics and Phenotyping, on genetic analyses of families with NRXN1 deletions.

Edward S. Brodkin, MD spoke during the Human Phenotyping Studies session, highlighting recent findings and research participation opportunities here at the Autism Spectrum Program of Excellence (ASPE).

During the Poster Reception, 10 ASPE members showcased their latest research:
  • Joanna Medina — Bridging the translational gap between preclinical and clinical studies of autism
  • Kate Titus — Three-dimensional chromatin architecture at NRXN1 deletion sites during iPSC-derived neural lineage commitment
  • Jamie Galanaugh — Striatal neuromodulatory dysfunction in Neurexin1-alpha mutant mice
  • Brielle Gehringer — Needs assessment of families with NRXN1 (2p16.3) variants
  • Shriya Kunatharaju — Dissecting variable penetrance and expressivity in NRXN1 deletion families through molecular and phenotypic characterization
  • Ellie Tarlow — Loss of Neurexin-1 impacts energy metabolism in Drosophila melanogaster
  • Will Haury –– Allele-specific rescue of neurexin behavioral phenotypes by monoamine-targeting compounds
  • Thaise Carnero — Impact of NRXN1 deletions on isoform expression in iPSC-derived neurons
  • Emily Colón — Bridging the gap: Meaningful community outreach and interactive recruitment in autism research
  • Amanda Friedman — Unique and overlapping behavioral effects of isoform-specific NRXN1 deletions across development

Beyond the sessions, we were inspired by the thoughtful conversations and personal stories shared by families, researchers, caregivers, and clinicians. Hearing directly from those affected by NRXN1 reminded us of the power of partnership and community in advancing meaningful research. We were also pleased to recruit several participants and families into our study during the conference.

ASPE returns energized and grateful. A heartfelt thank-you to the organizers and all who made these important conversations possible — and special thanks to our Advisory Board Member, Marissa Mitchel, M.S., CCC-SLP, Founder of the NRXN1 Network, for including us in this special event.

 

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