Recent advances have expanded research and treatment possibilities for urea cycle and metabolic disorders, yet gaps remain in awareness, diagnosis, and care.
Urea Cycle Disorders: The Rhythm of Progress Symposium, set for Friday, July 17, 2026, convenes leading investigators, clinicians, and translational scientists to examine the current landscape, emerging discoveries, and future directions in urea cycle disorder (UCD) research and care.
Hosted by Dr. Andrea Gropman, MD, of the St. Jude Children’s Research Hospital Pediatric Translational Neuroscience Initiative (PTNI), in collaboration with the Urea Cycle Disorders Consortium (UCDC) and the National Urea Cycle Disorders Foundation (NUCDF), this inaugural symposium highlights innovative research, novel diagnostics, and evolving therapeutic strategies. Featuring experts across metabolism, cancer biology, and rare disease therapeutics, this event fosters cross-disciplinary collaboration, training, and mentorship to accelerate translational science and advance meaningful progress for individuals living with UCDs.
Register to Attend Virtual Symposium
Date: Friday, July 17, 2026
Format: Virtual for external participants (with a limited in-person audience)
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Agenda
| Time All times in Central Time (CT) |
Session/Event | Speaker |
|---|---|---|
| 8:00 a.m. | Meeting link opens | |
8:30 a.m.–12:15 p.m. |
Research Session: Innovations in Urea Cycle Disorders (UCDs) and Rare Disease |
|
8:30–8:45 a.m. |
Welcome and Introductions | |
8:45–9:05 a.m. |
A Consortium Approach to Advancing Clinical Research and Clinical Care in UCDs |
Sandesh Nagamani, MD |
9:05–9:25 a.m. |
Noninvasive Biomarkers of Liver Disease in UCDs |
Lindsay Burrage, MD |
9:25–9:45 a.m. |
Deciphering the UCD Brain: Structural, Functional, and Metabolic Signatures of Urea Cycle Dysfunction |
Andrea Gropman, MD |
9:45–10:05 a.m. |
When Two Wrongs Make a Right: Genetic Insights from Yeast Functional Assays |
Aimee Dudley, PhD |
10:05–10:25 a.m. |
Q&A Panel with Speakers 1–4 |
|
10:25–10:40 a.m. |
Break |
|
10:40–10:45 a.m. |
Introductions |
|
10:45–11:30 a.m. |
Unraveling the Brain Pathophysiology of Arginase Deficiency |
Gerald Lipshutz, MD |
11:30 a.m.–12:15 p.m. |
Therapeutic Gene Editing for Urea Cycle Disorders |
Rebecca Ahrens-Nicklas, MD, PhD |
| 12:15-1:30 p.m. | Break | |
1:30–4:00 p.m. |
Clinical Session: UCD Care and Management |
|
1:30–1:35 p.m. |
Introductions |
|
1:35–1:55 p.m. |
Their Muted Genes Were Supposed to Be Harmless: “Carriers” of Certain Genetic Diseases, Who Have Just One Affected Gene, Can Have Symptoms Too |
Greta Wilkening, PhD |
1:55–2:25 p.m. |
UCD 101 |
Lindsay Burrage, MD |
2:25–2:45 p.m. |
Diet Management & Importance of Protein Management |
Erin MacLeod, PhD, RD, LD |
2:45–3:00 p.m. |
Break |
|
3:00–3:05 p.m. |
Introductions |
|
3:05–3:35 p.m. |
Medical Management in UCD |
Laura Konczal, MD |
3:35–3:55 p.m. |
Cerebral Metabolism in UCDs: Quantifying Changes in MRS and fNIRS |
Puneet Bagga, PhD Kosar Khaksari, PhD |
3:55–4:00 p.m. |
Closing Remarks |
Andrea Gropman, MD |
Event hosts
Continuing Medical Education (CME) Information
Educational Objectives
After participating in this symposium, learners will be able to:
- Recognize and diagnose urea cycle disorders across the lifespan, integrating clinical presentation, biochemical testing, and genetic evaluation to reduce time to diagnosis and improve outcomes.
- Explain the underlying pathophysiology of urea cycle disorders, including ammonia toxicity, metabolic network disruption, and effects on brain development and function, and apply these concepts to patient management.
- Apply evidence-based strategies for acute and long-term management of UCDs, including dietary therapy, nitrogen scavengers, neurocognitive monitoring, and transition of care.
- Evaluate new and emerging therapies for urea cycle disorders, including gene-based, enzyme replacement, and precision medicine approaches, and discuss their implications for future clinical practice and research.
Accreditation Statement
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of St. Jude Children’s Research Hospital and the Urea Cycle Disorders Consortium. St. Jude Children’s Research Hospital is accredited by the ACCME to provide continuing medical education for physicians.
Credit Designation Statement
St. Jude Children’s Research Hospital designates this live activity for a maximum of 4 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
About the St. Jude Pediatric Translational Neuroscience Initiative
St. Jude Children’s Research Hospital is committed to transforming the treatment landscape for children living with catastrophic pediatric neurological disorders through its Pediatric Translational Neuroscience Initiative (PTNI). Launched in 2020, PTNI serves as a formalized mechanism for translational neuroscience that extends from fundamental bench science to experimental neurotherapeutics with an emphasis on working closely with stakeholders across multiple sectors, including other researchers and institutions, patient and community groups, industry, and policymakers.
Through collaborations and thought partnership, PTNI engages thought leaders to identify promising paths forward in the pediatric neuroscience space, convening scientists, clinicians, patient advocates, and others to address the unmet needs of children with these disorders.
