Connections 2025

SHARED NEEDS, UNIQUE EXPERIENCES

About the Conference

Connections 2025: Shared Needs, Unique Experiences brought together researchers, clinicians, and families for a focused two-hour virtual gathering designed to deepen understanding of SYT1 Syndrome. The conference opened with educational sessions that established a shared foundation on genetics, SYT1 function, and overlapping mechanisms across related disorders.

Leading scientists shared concise research updates spanning clinical mapping, biological models, and cellular studies, complemented by insights from the GAA team’s natural history efforts.

Family stories highlighted lived experiences and diverse perspectives, followed by interactive audience engagement through polls and Q&A. The session closed by reflecting on collective themes—what was shared and what was distinct—and explored opportunities for continued collaboration and progress.

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Speakers

  • Portrait of a young blonde woman with blue eyes smiling, wearing a gray shirt, in an indoor setting with blurred background.

    Sarah Waters

    As the Founder and President of the Baker-Gordon Syndrome Foundation, Sarah Waters brings both professional dedication and personal experience as the mother of a daughter with SYT1-1. She is committed to building a supportive, informed, and connected community for families around the world.

  • A woman with curly hair and glasses outdoors with trees and grass in the background.

    Dr. Kate Baker

    Kate is a Programme Leader at the MRC Cognition and Brain Sciences Unit, University of Cambridge. She is also Assistant Professor of Clinical Genetics in the Department of Pathology, Honorary Consultant in Clinical Genetics at Cambridge University Hospital, and an affiliate PI of the Academic Department of Genomic Medicine. 

  • Portrait of a smiling woman with brown hair tied back, wearing a blue floral sleeveless blouse, standing indoors next to a window with blurred background.

    Dr. Sarah Gordon

    Dr. Gordon’s work, at the Neurodegeneration group at The Florey, focuses on determining how dysfunction in presynaptic proteins (including alpha-synuclein) contributes to the pathogenesis of neurodegenerative and neurodevelopmental conditions.

  • A smiling man outdoors with trees in the background, wearing a dark sweater and collared shirt.

    L. Niels Cornelisse

    Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Department of Clinical Genetics, VUmc, Neuroscience Campus Amsterdam (NCA), VU University (VUA) and VU University Medical Center (VUmc), Amsterdam, The Netherlands

  • A portrait of an older man with gray hair and a beard, wearing a blue checkered shirt and a gray blazer, standing indoors with a neutral background.

    J. Troy Littleton, M.D., Ph.D.

    Menicon Professor of Neuroscience
    Department of Biology
    Department of Brain and Cognitive Sciences
    The Picower Institute for Learning & Memory
    Massachusetts Institute of Technology

  • A man with short blonde hair wearing a dark suit, blue shirt, and patterned tie against a gray background.

    W. David Arnold, MD

    Executive Director of the NextGen Precision Health initiative

    Professor of Physical Medicine and Rehabilitation, Neurology and Medical Pharmacology and Physiology, School of Medicine

  • Professional headshot of a man in a suit and tie smiling at the camera against a gray background.

    Daniel J. Davis, PhD

    Associate Research Professor Assistant Director, MU Animal Modeling Core (AMC)

    My research interests include genetic engineering, molecular genetics, CRISPR-Cas technology, and creating animal models to study human diseases.

  • A smiling young man with dark curly hair and a beard, wearing a light-colored blazer over a white shirt, standing outdoors with green trees in the background.

    Sam Norwitz

    MD-PhD student at Harvard-MIT (HST) & University of Cambridge | Gates Cambridge Scholar & NIH OxCam Scholar

Connections 2025: Shared Needs, Unique Experiences

AGENDA

Introduction

Sarah Waters
Founder & President

Shared Stories

Spotlight on 2 Children

Education Foundation

Dr. Kate Baker and Dr. Sarah Gordon
Understanding Genes/Variants, How Syt-1 works,
Phenotype based on variant, and our Next Questions

Patient Centered Research Update

Sam Norwitz
Clinical & Symptom Mapping

BRAINMODEL consortium
EEG profiles of Syt1 patients

Genetic Autism Alliance
Natural History Study Updates

Interactive Poll

Model Centered Research Update

Dr. Troy Littleton
MIT
Using Drosophila to model Synaptotagmin Function

Dr. David Arnold
University of Missouri
Mouse Models

Dr. Sarah Gordon
Florey Center
Biological Models & Comparative Research

Dr. Niels Cornelisse
Amsterdam UMC
Cellular Work in Human Neurons

Closing