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Aniridia FoundationMeeting Details

Aniridia and Beyond: PAX6, Eye Deficits, and Effects on Metabolic Disease  

A conference on aniridia and related congenital eye disorders: for patients and their families, clinicians and research investigators


Patient-oriented Sessions July 31-August 2, 2013
Research and Clinical Symposia August 2-4, 2013
UVAUniversity of Virginia
Charlottesville, VA

Registration deadline July 20, 2013

Visit our Registration page for registration information and details.

Area Information

Meeting history, context and information about the Charlottesville environment (restaurants, local sights, etc.)

Research and Clinical Symposia Schedule

August 2, Morning, Clinical Session I:  Discussion of therapies for patient participants

  • Peter Netland, University of Virginia “Aniridia Foundation International medical registry and UVa gene bank”
  • Juan Alveraz de Toledo, Centro de Oftalmología Barraquer “Treatment of cataract and keratopathy in congenital aniridia: where are we now?”
  • John Freeman, University of Tennessee Health Science Center “Boston Kpro for treatment of corneal pannus in aniridia patients”
  • Kristiana Neff, Carolina Cataract & Laser Center “Cataract surgery and use of artificial iris implants in aniridia”
  • Christopher Riemann, Cincinnati Eye Institute “Aniridia retinal issues and Aniridia Fibrosis Syndrome (AFS)”
  • Melinda Duncan, University of Delaware “Preliminary laboratory studies on Aniridia Fibrosis Syndrome”

August 2, Afternoon, Research session I:  Gene Regulation in disease and development

Lunch Keynote Speaker:  Veronica van Heyningen, University of Edinburgh  “Lessons from aniridia: eyeing up the future, glancing back”

  • Robert Grainger, University of Virginia “Insights from the amphibian Xenopus: a powerful model for studies of human congenital eye gene mutations”
  • Robert Chow, University of Victoria “MicroRNA regulation of Pax6 expression”
  • Ruth Ashery-Padan, Tel Aviv University “Pax6: a multi-level regulator of eye development”
  • Willian Klein, MD Anderson Cancer Center “Transcriptome of Atoh-7-expressing retinal progenitor cells identifies new regulatory genes for retinal ganglion cell development”
  • James Lauderdale, University of Georgia “New insights into aniridia”
  • Elizabeth Simpson, University of British Columbia “Towards aniridia gene therapy”
  • Melinda Duncan, University of Delaware “The role of Smad interacting protein 1 (Sip1) gene in regulating genes associated lens formation”
  • Cheryl Gregory-Evans, University of British Columbia “Delving into regulation of foveal development in aniridia”
  • Friday Evening Keynote Speaker: Tom Glaser, University of California, Davis “Retinoid pathway defects in hereditary eye malformations”

August 3, Morning, Clinical session II:  Patient care for challenging aniridia cases

  • Peter Netland, University of Virginia “Glaucoma update in aniridia”
  • Victor Baum, University of Virginia “Anesthetic management of children and adults with genetic and metabolic syndromes”
  • Juan Alveraz de Toledo, Centro de Oftalmología Barraquer “Surgical approaches in aniridia keratopathy: our experience and future trends”
  • John Freeman, University of Tennessee Health Science Center “The Boston Kpro: A viable solution for corneal keratopathy in those with Aniridia”
  • Kristiana Neff, Carolina Cataract & Laser Center “Cataract surgery and use of artificial iris implants in aniridia”
  • Christopher Riemann, Cincinnati Eye Institute “Aniridia - A vitreoretinal perspective”

August 3, Afternoon, Research session II:  Congenital eye disorders: PAX6 eye deficits and effects on metabolic disease

  • Cheryl Gregory-Evans, University of British Columbia “Pre-clinical development of ‘START’ therapy in a mouse model of aniridia”
  • Kevin Gregory-Evans, University of British Columbia “START therapy, a multicenter clinical trial of a novel therapy for aniridia”
  • Anthony Moore, University of Georgia “Genetic modification, expansion, and transplant of limbal stem cells as a possible treatment option for aniridic keratopathy”
  • Ruth Ashery-Padan, Tel Aviv University “The role of Pax6 in pancreas development and disease” Michael Thorner, University of Virginia “Ghrelin and other enteroendocrine factors regulating obesity”
  • Michael Menaker, University of Virginia “The role of circadian pacemakers in coordinating metabolism”
  • Satchidananda Panda, Salk Institute “Light, clock and meal timing in healthy living”
  • Joan Han, National Institutes of Health “Hormones and Metabolism in PAX6 haploinsufficiency”

August 4, Morning session:  student and postdoctoral fellow presentations, informal discussion period for speakers and meeting participants

Opportunities for students and postdocs to present posters or short talks.  CME credit available for August 3 morning session.

Registration deadline July 20, 2013


Send all inquiries to aniridia@virginia.edu.