Following the success of our inaugural Science Summit in 2022, the MSUD Family Support Group (FSG) proudly hosted the second MSUD Translational Science Summit on June 27, 2024. This day-long event brought together world-renowned researchers, both in person and virtually, to share cutting-edge developments in Maple Syrup Urine Disease (MSUD) research.

“This science summit enables scientists and medical professionals to interact and piece together a more complete and deeper understanding of the impact of MSUD on the body and on the brain. This will help us to better understand what potential treatments and drugs might improve the day to day lives of those with MSUD as well as point us to potential cures of the disease” said Karen Dolins, Research Lead of the MSUD Family Support Group.  “The discussions and information that was exchanged during the summit will be used to set the MSUD Family Support Group’s research priorities and guide us toward selecting future research projects.  We are grateful to all presenters and attendees for their contributions and dedication and we look forward to reconvening at the next MSUD Science Summit in 2026!”

Participants in the 2024 science summit included members of our Scientific Advisory Board, the MSUD FSG Board of Directors, and prominent scientists working on innovative therapies and diagnostics aimed at improving outcomes for individuals with MSUD.

Featured Presentations:

Dr. Lital Alfonta, Ben Gurion University of the Negev, Israel – Development of an electrochemical amino acid monitor

Drs. Maneul Schiff & Clement Pontoizeau, Institut Imagine, Paris – AAV gene therapy in neonatal MSUD mouse models

Dr. John Counsell, University College, London – Liver and brain-directed gene therapy strategies for MSUD

Dr. Kevin Strauss, Clinic for Special Children, PA – Gene therapy research in a bovine model of MSUD

Drs. Brad Pentelute & Francisco Alvarez Morphy, MIT, Boston – Application of mRNA therapeutics to MSUD

Dr. Jessica Gold, Northwell Health, NY – Neurocognitive outcomes and executive functioning in individuals with MSUD

Dr. Rebecca Ahrens-Nicklas, Children’s Hospital of Philadelphia – Mouse models of branched-chain amino acid disorders in the brain

Drs. Kosar Khaksari & Andrea Gropman, St. Jude Children’s Research Hospital, Memphis – Examining brain function in MSUD using functional near-infrared spectroscopy (fNIRS)

Dr. George Mazariegos, UPMC Children’s Hospital, Pittsburgh – Liver transplantation: outcomes and ongoing challenges

Dr. Max Wynn, University of Texas Southwest Medical Center, Dallas – The branched-chain ketoacid dehydrogenase complex and potential for kinase inhibitors