2nd Annual Southern California Rare Disorders Symposium

The 2nd Annual Southern California Rare Disorders Symposium brings together rare disorder advocates from researches and physicians to company executives who have a wide range of experience in the field. We aim to connect community members, students, and experts in the joint effort to raise awareness for rare disorders along with the methods used to study, diagnose, and treat them. We invite everyone to join! Physicians and all healthcare professionals, researchers, students, all interested community members, and advocates are encouraged to join.

Friday, March 19, 2021
1 p.m. to 5 p.m. PT
Free Virtual Event

Register Here    View Speaker Line-Up 

Agenda & Speakers

NOTE: All times on this agenda are Pacific Daylight Time (PDT)

Time(PDT) Topic Speaker
12:30 - 1:00p.m. Online Poster Session
1:00 - 1:10p.m. Opening Remarks and Introduction Virginia Kimonis, MD, MRCP, Dan M. Cooper, MD, Yasamin Fazeli, Aneesah Akbar, and Linda Beqaj
1:10 - 1:45p.m. Delivering on the Clinical Promise of CRISPR: From N=1 to N=All Fyodor Urnov, PhD
1:45 - 2:00p.m. Cornelia de Lange, Related Disorders, and the Cohesin Complex Anne L. Calof, PhD
2:00 - 2:20p.m. Converging Pathways in Neurodegeneration: From Genetics to Mechanisms Albert La Spada, MD, PhD
2:20 - 2:35p.m. Using Zebrafish Models to Understand Rare Developmental Defects Thomas Schilling, PhD
2:35 - 2:45p.m. Break [Posters available and sponsors present at virtual booths]
2:45 - 3:05p.m. First-in-Human Autologous Transplantation of Gene-Modified Hematopoietic Stem Cells for Cystinosis: Update on the Phase I/II Clinical Trial Stephanie Cherqui, PhD
3:05 - 3:20p.m. Wearing MANY the hats: From Impossible to Possible; From Parent Advocate, to CSO of a Non-Profit, to Co-Founder of a Biotherapeutic Company: A Personal Journey of Drug Development Allyson Berent, DVM, DACVIM
3:20 - 3:35p.m. Early Experience with an Investigational ASO for Disease-Directed Treatment of Angelman Syndrome Elizabeth Berry-Kravis, MD, PhD
3:35 - 3:50 p.m. Human Neural Stem Cells Differentiate and Integrate, Innervating the Striatum of Implanted Huntington’s Disease Mice Jack Reidling, PhD
3:50 - 4:05 p.m. Abstract Presentations
4:05 - 4:15 p.m. Break[Posters available and sponsors present at virtual booths]
4:15 - 4:30 p.m. Encountering Hypophosphatasia (HPP): The Random Walk Toward Illumination Mark Nunes, MD
4:30 - 4:45 p.m. Molecular Mimicry: How Common Infections Can Trigger Neuropsychiatric and Behavioral Disorders Craig Shimasaki, PhD, MBA
4:45 - 5:00 p.m. Patient Advocacy and the Pandemic Nathan Peck, MBA
5:00 - 5:05 p.m. Advocacy for Rare Diseases Global Genes (TBA)
5:05 - 5:15 p.m. Closing Remarks and Raffle Fabiola Quintero-Rivera, MD, FACMG



  • Sanofi Genzyme
  • Perkin Elmer
  • Perkin Elmer Genomics
  • UCI Rare Diseases Clinical Research
  • NORD Students for RARE
  • Co-host

  • UCI School of Medicine Division of Genetics and Genomics, Department of Pediatrics
  • National Organization for Rare Disorders (NORD) Student Chapter at UCI
  • Contact Us

    For more information, please contact program co-chair Yasamin Fazeli at yfazeli@uci.edu