A recent CureARS and CHOC research symposium convened leading experts in rare disease research, showcasing significant advancements in the field.
The event drew participants from representatives of eight children’s hospitals, 15 organizations, and a total of 200 attendees representing 20 states and four countries.
Held virtually on Feb. 7, 2025, the event focused on promoting collaboration and sharing knowledge among clinicians, researchers, families, industry leaders, and advocates. Discussions highlighted the need for innovative approaches to tackle the challenges faced by families affected by rare diseases.
Families who have received care for rare diseases at CHOC — some of them for ultra-rare conditions — provided perspectives that contribute to the dialogue surrounding rare disease research and treatment options. Their involvement underscores the importance of patient experience in shaping research priorities and advancing therapeutic strategies.
CureARS, a nonprofit that supports families living with ultra-rare mitochondrial aminoacyl t-RNA synthetase (mtARS) disorders, joined the CHOC Research Institute in organizing the symposium to connect families and foster a communication network to empower parents to advocate more effectively for their children’s needs.
This initiative is crucial, as many families can face limited resources.
Featured speakers
Among the featured speakers was CHOC’s Dr. Jose Abdenur, who is nationally recognized for his expertise in pediatric rare genetic disorders. Dr. Abdenur delivered the welcome and opening remarks.
Dr. Jennifer Yang, assistant clinical professor of neurosciences at Rady Children’s Hospital in San Diego, provided the closing remarks, sharing insights on “Patient Engagement in Mitochondrial Disease Research.” Dr. Yang’s emphasis on engaging patients in the research process resonated deeply with attendees, underscoring the importance of their perspectives.
The symposium also showcased important contributions from leaders at CHOC including Lois Sayrs, PhD, director of biostatistics at CHOC, who addressed “Informatics and Statistics Research Activation in Clinical Studies in Rare Disease.”
Dr. Sayrs highlighted the essential role of robust research design and statistical analysis in advancing the understanding of rare diseases.
Additionally, Dr. Neda Zadeh, a pediatric genetics specialist at CHOC, shared her insights on “Thoughts on the Future of Genetic Testing,” sparking discussions on the evolving landscape of genetic diagnostics.
Prominent figures from the rare disease industry also attended, including Ethan Perlstein, PhD, chief scientist and CEO of Perlara PBC; and Sundeep Dugar, PhD, CEO of Blue Oak Nutraceuticals, Inc.
The symposium fostered discussions on innovative research methodologies, study design, patient engagement programs, and the future of genetic testing. By sharing groundbreaking ideas and forming connections, the insights gained from the symposium will undoubtedly guide future initiatives.
To register for the 4th Annual CHOC & UCI Rare Disease Symposium and Family Conference, scheduled for Friday, Feb. 28, 2025, please visit this link.
Learn more about metabolic rare disease research at CHOC
