In April 2024, the NUCDF Family Conference “Legacy of Hope” welcomed 54 families from the U.S., Puerto Rico, Brazil, Peru, El Salvador, and Canada, as well as nearly 40 medical professionals focused on improving the lives of people affected by urea cycle disorders. The “Legacy of Hope” conference theme guided the program as attendees honored the past and looked to the future. Presentation videos and downloadable slides appear below:
Friday, April 5 Presentations
A tribute to Cindy Le Mons. The life and legacy of longtime NUCDF executive director Cindy Le Mons was celebrated at an opening reception. This video features a compilation of photos and memories as well as a memorial lecture by Brendan Lee, M.D., Ph.D., of Baylor College of Medicine.
UCD impacts on daily lives, learning processes and educational challenges. Featuring Marifi Escobar, "momvocate" and UCD parent. Download slides.
Transition to adulthood. Featuring Kristy McCracken, adult patient.
Saturday, April 6 Presentations
Keynote Address: Legacy of Hope. Sandesh C.S. Nagamani, MBBS, M.D., Baylor College of Medicine. Highlights the history of research into urea cycle disorders, prevalence data, current findings, and challenges to advancing research and clinical care. Download slides.
Emerging knowledge from MRI imaging studies: Is ammonia control enough? Andrea Gropman, M.D., Children's National Hospital. Provides an overview of Dr. Gropman's neuroimaging research with the Urea Cycle Disorders Consortium. Download slides.
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New insights on liver disease. Linday Burrage, M.D., Ph.D., Baylor College of Medicine. Examines chronic liver disease in urea cycle disorders, providing an overview of what's known so far, a look at new research, and tips for staying as healthy as possible. Download slides.
Panel Discussion with Sandesh Nagamani, MBBS, M.D., (Baylor College of Medicine), Andrea Gropman, M.D. (Children's National Hospital), Linday Burrage, M.D., Ph.D. (Baylor College of Medicine).
Improving diagnosis with the awesome power of yeast genetics. Aimee Dudley, Ph.D., Pacific Northwest Research Institute. Highlights work to generate faster and more informative diagnosis from genetic testing using a method based on yeast genetics. Download slides.
A long-term perspective on liver transplant decision making in UCDs. George Mazariegos, MD, University of Pittsburgh Medical Center. Offers a long-term perspective on liver transplant decision making in urea cycle disorders from a physician who, along with his team, has performed numerous liver transplants in patients with UCDs. Download slides.
Making the choice between medical management and liver transplant. Nicholas Ah Mew, M.D., Children’s National Hospital. Shares findings from the recent study that focused on the family experience in making the choice between medical management and liver transplantation. Download slides.
Panel discussion on liver transplants. The Dinon family (Michelle, Jack, Sophia) joined George Mazariegos, M.D. (University of Pittsburgh Medical Center), Nicholas Ah Mew, M.D. (Children's National Hospital) and Aimee Dudley, Ph.D. (Pacific Northwest Research Institute).
Tribute to Debra Hook, Ph.D., R.D. Tresa Warner, NUCDF president, and Amanda Sonntag, NUCF Board member and family advocate, present a tribute to dietician Debra Marie Geary (Hook), MPH, PhDc, RD, FAND. Deb worked closely with NUCDF for many years providing support and guidance.
Fork in the road: Improving your UCD diet. Erin MacLeod, Ph.D., R.D., L.D., Children’s National Hospital. Focuses on diet management for people with urea cycle disorders.
Gene therapy: Is it the new frontier? Shawn McCandless, M.D., Children's Hospital of Colorado. Provides an overview of current efforts to develop gene therapy for urea cycle disorders. Download slides.
Hope happens here: Understanding and participating in clinical trials. Susan Berry, MD, University of Minnesota Medical School. Outlines key points patients and families should understand when considering participating in a clinical drug trial. Download slides.
Panel Discussion with Shawn McCandless, M.D. (Children's Hospital of Colorado), Susan Berry, M.D. (University of Minnesota Medical School), Erin MacLeod, R.D., Ph.D. (Children's National Hospital).
