More than 100 advocates, researchers, clinicians, students, and families will gather to share research, knowledge, and experience on rare diseases at the second-annual CHOC and UCI Rare Disease Symposium & Family Conference on March 10, 2023.
For more information and to register for the event, please click here.
At last year’s inaugural rare diseases symposium, participants struck a common theme of hope.
The annual event was created after CHOC and the University of California, Irvine (UCI) Health were designated a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD).
The designation highlights CHOC’s emergence as a growing pediatrics leader in rare disease in the clinical genetics field. It now is part of a highly select group of 31 medical centers seeking to expand access and advance care and research for rare disease patients in the United States.
“We are eager to push the rare disease field forward by collaborating to develop new care guidelines, improve medical and family education, create safe and effective referral pathways, and innovate around new treatments, therapies, and research,” says Dr. Jose E. Abdenur, chief, Division of Metabolic Disorders, and director, Metabolic Laboratory, at CHOC.
This year’s symposium will feature a grand rounds session at 8 a.m. on March 8 with speaker Curtis R. Coughlin II, PhD, MS, MBE from the Department of Pediatrics and the Center for Bioethics and Humanities at Children’s Hospital Colorado.
Dr. Coughlin’s research focuses on inborn errors of metabolism that result in neurologic dysfunction. To register for the March 8 session, click here.
CHOC-UCI Rare Diseases Symposium full schedule for March 10:
9:30 – 9:40 AM | Welcome & Introductions
9:40 – 10 AM | Rare Disease & Hematology: Curative Therapies for Hemoglobin Disorders
Mark Walters, MD, Interim Division Chief, Hematology-Oncology, UCSF Benioff Children’s Hospital Oakland, pediatric hematologist-oncologist, bone marrow transplant specialist
10 – 10:20 AM | Rare Diseases and Hematology: Rare Bleeding and Clotting Factor Deficiencies
Diane J. Nugent MD, Chief, Division of Hematology, CHOC; Clinical Professor, Department of Pediatrics UCI, Principal Investigator: Region IX MCHB Hemophilia Treatment Program
10:20 – 10:30 AM | Discussion
With Mark Walters, MD and Diane Nugent, MD
10:30 – 10:55 AM | Rare Diseases and Neurology: Deep Brain Stimulation for Treatment of Movement Disorders in Children
Terence Sanger MD, Ph.D., Chief Scientific Officer, CHOC; Professor of Electrical Engineering and Computer Science, UCI Samueli School of Engineering and Vice Chair for Research, Dept of Pediatrics, UCI School of Medicine
10:55 – 11:20 AM | Rare Diseases and Neurology: Using Computational Phenotyping to Improve the Management of Infantile Spasms and Lennox-Gastaut Syndrome
Daniel W. Shrey, MD, FAES, FACNS Division of Pediatric Neurology, CHOC, Assistant Clinical Professor, UCI
11:20 – 11:45 AM | New Treatments for Rare Neurological Diseases: Personalized Antisense Oligonucleotides for the Treatment of Rare Diseases
Scott Younger, Ph.D. Director, Disease Gene Engineering, Genomic Medicine Center Assistant Professor of Pediatrics University of Missouri-Kansas School for Medicine
11:45 – 12:00 PM | Panel Take Away + Q&A
12:00 – 12:30 PM | Lunch Break
12:30 – 12:50 PM | Parents’ Stories
The Power of Advocacy Desiree Magee Founder, CureARS
12:50 – 1:50 PM | Parents’ Stories
Our Family’s Journey with a Rare Disease with Caroline Marley, CHOC Parent
1:05 – 1:35 PM | Posters and Awards
Moderated by Fabiola Quintero-Rivera, MD
1:35 – 2:00 PM | Improving Policy for Rare Disease Families National Organization for Rare Disorders (NORD)
Marybeth McAfee, MA, Associate Director, Centers of Excellence, National Organization for Rare Disorders
Corinne Alberts, MPP, Associate Director for Policy, National Organization for Rare Disorders
2:00 – 2:35 PM | Research and Innovation in New ASO Treatments for Spinal Cerebellar Ataxia Type 7
Albert LaSpada, MD, PhD
2:35 – 2:50 PM | Closing Remarks
For more information and to register for the event, please click here.
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