ASXL Research Symposium program

About the Symposium

Thursday, July 18 - Friday, July 19, 2024

Kennedy Krieger Institute Ashland Outpatient Center
Arnold J. Capute, MD, MPH Conference Center – 8th Floor
1741 Ashland Avenue
Baltimore, MD

The ASXL Research Symposium is a deeply scientific program intended for basic scientists, clinicians, and other research professionals. The program is all day Thursday, July 18 and the morning of Friday, July 19. The program includes platform talks, discussion, a poster session, and the opportunity to meet with families living with ASXL-related disorders.

All ASXL Research Symposium attendees are welcome and strongly encouraged to plan their itinerary to attend the ASXL Community Dinner with ASXL families on Friday, July 18 and stay for the ASXL Family Conference program on Saturday, July 20 and Sunday, July 21.

Schedule at a glance

Thursday, July 18

  • Regulation of gene expression

  • Systems biology approach to ASXL-related disorders

  • Pathogenesis of ASXL-related disorders

  • Panel discussions: Polycomb biology in various model systems

  • Poster session

Friday, July 19

  • Clinical updates in ASXL-related disorders

  • Clinical outcome measures in ASXL-related disorders

  • Collaboration and funding opportunities in ASXL-related disorders

  • Afternoon/evening: Transition to ASXL Family Conference, including ASXL community dinner

Program and speaker details

Thursday, July 18

Welcome
8:30-9:00am

  • Laura Badmaev

    ARRE Foundation

    Welcoming remarks

  • Stephanie Bielas

    University of Michigan

    Overview of ASXL-related disorders

Regulation of gene expression
9:00-10:30am

Moderator: El Bachir Affar, PhD (University of Montreal)

  • Stephanie Bielas, PhD

    University of Michigan

  • Haruhiko Koseki

    RIKEN Center for Integrative Medical Sciences

    Polycomb in development and homeostasis

  • Eric Conway

    University College Dublin

    Histone H2A ubiquitination in chromatin structure, transcription and health

Systems biology approach to ASXL-related disorders
11:00am-12:30pm

Moderator: Bianca Russell, MD (UCLA)

  • Valerie Arboleda, MD, PhD

    UCLA

    Metabolic dependencies of ASXL1 mutations

  • Zain Awamleh, PhD

    University of Toronto

    Methylation signatures in ASXL-related disorders

  • Jill Fahrner, MD

    Johns Hopkins University

    ASXL-related disorders in an epigenetics clinic

Pathogenesis of ASXL-related disorders
1:30-3:00pm

Moderator: Stephanie Bielas, PhD (University of Michigan)

  • Rob Illingworth

    University of Edinburgh

    Balancing histone ubiquitination in brain growth and development

  • Abby Dickinson

    UCLA

    Neural signatures of neurodevelopmental disorders: Insights from EEG spectral analysis

  • Additional speaker to be announced

Polycomb biology in model systems
3:30-5:00pm

  • Christina Roca

    University of California San Francisco

    Using frogs to dissect ASXL-related disorders

  • Arneet Saltzman

    University of Toronto

    Polycomb Repressive Complex 1 and histone H2A monoubiquitylation in C. elegans neuronal development

  • Joey Zuijdervelt

    Leiden Academic Centre for Drug Research

    A holistic zebrafish model for Bohring-Opitz Syndrome: The gateway to high-throughput compound screening

Poster session
5:30-6:30pm

Friday, July 19

Welcome and Clinical Phenotyping Keynote
8:15-9:00am

  • Natasha Ludwig

    Kennedy Krieger Institute and Johns Hopkins School of Medicine

    Deep phenotyping: Data collection efforts at ASXL Family Conference

  • Audrey Thurm, PhD

    National Institute of Mental Health

    Behavioral phenotyping for clinical trial readiness

Clinical updates in ASXL-related disorders
9:00-10:30am

Moderator: Wen-Hann Tan, BMBS (Boston Children’s Hospital)

  • Bianca Russell

    UCLA

    Updates from the ASXL Patient Registry and EEG study

  • Vandana Shashi

    Duke University

    Updates from an expanded Shashi-Pena Syndrome cohort

  • Emily Woods

    Sheffield Children’s Hospital

    Updates from one year of an ASXL3 natural history study

Clinical outcome measures
11:00-12:30pm

Moderator: Natasha Ludwig, PhD (Kennedy Krieger Institute and Johns Hopkins School of Medicine)

  • Rujuta Wilson

    UCLA

    Motor phenotyping in genetic neurodevelopmental conditions

  • Mary Wojnaroski

    Nationwide Children’s Hospital

    The Inchstone Project: Caregiver survey of parent priorities

  • Isabelle Lecreps

    University of Newcastle

    Results from an ASXL3 family quality of life and disease concept study

Symposium Program Committee

  • Stephanie Bielas, PhD

    University of Michigan

  • Natasha N. Ludwig, PhD

    Kennedy Krieger Institute and Johns Hopkins University School of Medicine

  • Bianca Russell, MD

    UCLA

  • Wen-Hann Tan, BMBS

    Boston Children’s Hospital