2019 ASXL Conference - DRAFT AGENDA

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Friday, July 19th

Family Day at the Hilton Garden Inn, Ann Arbor

  • Meet & Greet - Opportunities to connect with other ASXL families

  • Informational Workshops ( e.g. Augmentative Communication, Special Needs Trust & Conservatorship)

  • Parent Panel

  • Equipment & Therapy Exhibits

  • ASXL Family Dinner at the hotel

Professional Day (for Scientists and Researchers; Families are optional) at the Biomedical Science Research Building, University of Michigan, Ann Arbor Campus

  • Clinical features of BRS

  • Epigenetic factors of the developing neocortex

  • RING1 inhibitors

  • The genetic mechanisms of ASXL variants

  • DNA methylation signatures of developmental disorders, primarily ASXL1

  • Polycomb complexes in development and disease 

  • PRC1 regulation in differentiation and disease

  • Seizure pathogenesis of variants in genes that encode components of chromatin modifying complexes

  • Asx, Bap1 and the enigmatic role of histone H2A monoubiquitination

  • Sleep cycle disturbances associated with developmental disorders

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Saturday, July 20th

Medical Research & Family Day at the Hilton Garden Inn, Ann Arbor

Guest Presentations with Medical Specialists and Q&A sessions:

  • ASXL 1 - Dr. Bianca Russell

  • ASLX 2 - Dr. Loren Pena

  • ASXL 3 - Dr. Wendy Chung

  • Sleep Issues & Sleep Apnea - Dr. Hassan

  • Neurology - Dr. Leber & Dr. Parent

  • CBD / Cannabis 101 - Dr. Kevin Takakuwa

  • Gastroenterology Issues, Feeding, & Growth - Dr. George Zacur

  • Ears, Nose, & Throat - Dr. Green

  • Palliative Care - Dr. Kenneth Pituch

  • Endocrinology - Dr. Inna Thomas

  • Precious Puberty - Dr. Elizabeth Quint

  • Pulmonology - TBD

Special Guests - THERAPY DOGS!

Biobanking & Registries

  • Simons VIP & ASXL Registry - sample collection

  • Registry enrollment


  • Catered lunch for families and professionals

  • ASXL Family Dinner at Revel & Roll

    • Wheelchair accessible transportation and food will be provided at no charge

    • Adaptive Bowing & Arcade!


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Sunday, July 21st


  • Fun activities for families in the park

  • BBQ Lunch

Preliminary List of Professional Day Speakers:

Wendy Chung (Columbia - New York)

Rob Hevner (UCSD - California)

Tomek Cierpicki (University of Michigan - Michigan)

Kirin Nistala (Regeneron - New Jersey)

Rosanna Weksberg (Hospital of Sick Kids, Toronto - Canada)

Elena Ezhkova (Icahn School of Medicine at Mount Sinai - New York)

Rob Klose (University of Oxford - UK)

Gemma Cavill (Northwestern - Chicago)

Jürg Müller (Max Planck Institute of Biochemistry, Germany)

Jonathan Lipton (Harvard)

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