The MSUD Family Support group held its first ever Translational Science Summit on August 5, 2022 in Lancaster, PA. This meeting was conceived by our Scientific Advisory Board (SAB). Dr. Kevin Strauss, medical director of the Clinic of Special Children, and Karen Dolins, MSUD FSG Research Lead, planned the program. The entire SAB as well as the entire MSUD Family Support Group Board of Directors was invited to attend.

Most likely, never before has so much expertise and knowledge of MSUD been assembled together for an entire day to discuss MSUD. The meeting brought together in a single room many of the world’s most knowledgeable scientists on this disease. Attending the meeting were:

Richard “Max” Wynn, PhD, University of Texas Southwestern Medical Center

Kevin Strauss, MD, The Clinic for Special Children

Jessica Gold, MD, PhD, Children’s Hospital of Philadelphia

Rebecca Ahrens-Nicklas, MD, PhD, Children’s Hospital of Philadelphia

Karlla Brigatti, MS, CGS, The Clinic for Special Children

Vincent Carson, MD, The Clinic for Special Children

George Mazariegos, MD, UPMC Children’s Hospital, Pittsburg

Kyle Soltys, MD, UPMC Children’s Hospital, Pittsburg

Jenny Greig, PhD, University of Pennsylvania

James Wilson, MD, PhD, University of Pennsylvania

Jiaming Wang, PhD, University of Massachusetts Chan Medical School

Dan Wang, PhD, University of Massachusetts Chan Medical School

Karen Dolins, EdD, RDN, MSUD Family Support Group

Andrea Gropman, MD, Children’s National Hospital

Kosar Khaksari, PhD , Children’s National Hospital

Also attending were members of the MSUD Family Support Group Board of Directors.

Topics covered during the one-day session included:

• A history of the therapeutics of MSUD
• The medical structure of MSUD and the potential for developing drug treatments.
• The effect of MSUD on the brain.
• Clinical trial readiness of MSUD treatments
• Liver transplantation as a mitigation strategy for MSUD
• AAV and mRNA gene therapy treatments for MSUD

“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”.