CHOC and UCI Rare Disease Symposium & Family Conference
Several hundred rare disease advocates, researchers, clinicians, students and families will gather for CHOC and UCI’s 3rd Annual Rare Disease Symposium and Family Conference to share their research, knowledge and experiences. This conference will feature the latest developments in diagnosis and treatment of rare diseases in ophthalmology, sexual differentiation, endocrinology, cardiology and hematology, and will include presentations by families affected by rare diseases. The March 7 Rare Diseases Scientific, Patient Presentations and Poster Session will be held in person at UCI Sue Gross Auditorium, 856 Health Sciences Rd, Irvine CA 92617. All other panels and discussions will be offered virtually.
Dates: March 6 – 8, 2023
- Wednesday, March 6 – CHOC Ground Rounds (Virtual): 8:00 AM – 9:05 AM
- Thursday, March 7 – Rare Diseases Scientific, Patient Presentations and Poster Session (In Person): 1:30 PM – 7:00 PM
- Friday, March 8 – Rare Disease Symposium Day 3 (Virtual): 8:45 AM – 1:00 PM
Presenters: Various medical, research and academic professionals. Click here for the full roster of presenters.
Audience:
- Medical professionals
- Researchers
- Healthcare industry professionals
- Individuals interested in learning about the latest advancements in medical research and treatments.
Objectives:
- Share the latest research and advancements in diagnosis and treatment of rare diseases.
- Connect advocates, researchers, clinicians, students, and affected families to build a supportive network.
- Discuss and develop new treatments, therapies, and care guidelines for rare diseases.
- Foster collaboration among various stakeholders to innovate and improve research and care.
- Address challenges in accessing care for rare disease patients and explore solutions.
- Raise awareness about rare diseases within the medical community and the public.
Zoom link and materials: More information will be sent to you via email once you register for these events.
Symposium Agenda
More information will be sent to you via email once you register for these events.
CHOC Grand Rounds for this event will be Virtual on Zoom.
To join, please connect on March 6th at 8:00 AM (PT) here: https://chocchildrens.zoom.us/webinar/register/WN_PiKTlSPwRhC_rZCmewFHLw
Moderator: Jose Abdenur, MD
- Rare Scientific Poster Viewing and Networking | 1:30 PM – 2:30 PM
- Welcome | 2:30 PM – 2:36 PM
- Jose Abedenur, MD, CHOC
- Virginia Kimonis, MD, UCI
- Fabiola Quintero–Rivera, MD, UCI
- Opening | 2:36 PM – 2:43 PM
- Pramod Khargonekar, PhD, UCI
- Introduction to Stanley F. Nelson, MD | 2:45 PM – 2:50 PM
- Fabiola Quintero–Rivera, MD, UCI
- Topic TBD | 2:50 PM – 3:20 PM
- Stanley F. Nelson, MD, Professor and Vice Chair of Human Genetics and Professor of Psychiatry, David Geffen School of Medicine, UCLA
Moderator: Fabiola Quintero–Rivera, MD, CHOC
- Posters and Awards | 3:20 PM – 5:20 PM
- The Patient's Voice in Rare | 5:30 PM – 6:10 PM
- Reception | 6:10 PM – 7:00 PM
- Session One: Rare Diseases and Endocrinology (Virtual) | 8:45 AM – 10:20 AM
- Introductions | 8:45 AM – 9:10 AM
- Jose Abdenur, MD, CHOC
- Virginia Kimonis, MD, UCI
- Rare Disease & Disorders of Sexual Differentiation | 9:10 AM – 9:40 AM
- Eric Vilain, MD, PhD, UCI
- Rare Disease & Endocrinology | 9:40 AM – 10:05 AM
- Siri Atma White Greeley, MD, PhD, University of Chicago
- Questions/Discussion | 10:05 AM – 10:20 AM
- Moderated by Nikta Forghani, MD, CHOC
- Mark W. Daniels, MD, CHOC
- Introductions | 8:45 AM – 9:10 AM
- Session Two: The Impact of Bioinformatics in Rare Diseases (Virtual) | 10:20 AM – 11:30 AM
- Moderator: Lois Sayrs, PhD, CHOC
- Wei Li, PhD, CHOC | 10:20 – 10:45 AM
- Anthony Chang, MD, MBA, CHOC | 10:45 – 11:15 AM
- Questions/Discussion | 11:15 – 11:30 AM
- Moderator: Lois Sayrs, PhD, CHOC
- Short Break | 11:30 AM – 11:40 AM
- Session Three: Rare Diseases and Ophthalmology (Virtual) | 11:40 AM – 12:50 PM
- Moderator: Maria Del Valle Estopinal, MD, UCI
- New Treatments for Rare Eye Diseases | 11:40 – 12:10 PM Krzysztof Palczewski, PhD, Donald Bren Professor, Gavin Herbert Eye Institute Ophthalmology Irving H. Leopold Chair, Gavin Herbert Eye Institute
- TBD | 12:10 – 12:35 PM Christina M. Kenney, MD, PhD, Director of Mitochondrial Research, Gavin Hebert Eye Institute Ophthalmology, Professor, Gavin Herbert Eye Institute Ophthalmology, UCI
- Questions/Discussion | 12:35 – 12:50 PM
- Moderator: Maria Del Valle Estopinal, MD, UCI
