Symposium Presentations

2024 Symposium Presentations

Welcome and introduction

Rachel Powers RD – Nutricia, Denise Kolivoski and Sandy Bulcher

Driving Research For MSUD

Karen Dolins, RD, EdD

Investigating Liver and Brain Gene Therapy Strategies for MSUD

John Counsell PhD

Drug Discovery for Maple Syrup Urine Disease

Max Wynn PhD

Changing the Trajectory of MSUD Research with the CoRDS Registry

Ben Fored, MDB and Karen Dolins, RD, EdD

Brain hemodynamics in patients with MSUD using fNIRS

Kosar Khaksari PhD

Novel models to study chronic neurological sympytoms in branched chain amino acid disorders

Rebecca Ahrens-Nicklas MD

MSUD incidence estimates from publicly available datasets

Rebecca Ahrens-Nicklas MD

Medical Management of MSUD

Nicholas Ah Mew MD

2018 Symposium Presentations

Welcome to the 2018 MSUD Symposim in Pittsburgh, PA

Sandy Bulcher, RN, MSUD Symposium Coordinator

MSUD Cooking Demonstration

Chef Neil, Vitaflo International

Uncovering the Metabolic and Nutrient Sensing Dysfunction in MSUD

Arvind Ramanathan, PhD, Buck Institute

Medical Management of MSUD

Nicholas Ah Mew MD, Children’s National Health System

Nutrition Management of MSUD

Rani Singh PhD, RD, Emory University

Genetic Therapies For MSUD

James Wilson, MD, PhD, UPenn Orphan Disease Center

Gene Editing and Cell Transplantation for the Treatment of Liver Disease

Steven Strom, PhD, Karolinska Institute

Using Patient-Derived Cells to Discover New Treatments for MSUD

Brian Wamhoff, PhD, HemoShear Therapeutics

MSUD Teen and Adult Panel

MSUD Teen and Adult Panel

MSUD Professional Panel

Dr. Ah Mew, Dr. Singh, and Dr. Bjoraker discuss life with MSUD and treatment for MSUD in a Q&A format.

Advocacy for the MSUD Community

Dr. Karen Reznik Dolins, EdD, RD, CSSD, CDN

Advocacy for the MSUD Community

Chad Farquharson, MSUD Parent

2016 Symposium Presentations

Beyond Survival – What do we mean by Successful Treatment?

Dr. Holmes Morton MD Pediatrician, Central Pennsylvania Clinic Belleville, Pennsylvania

MSUD – A sense of Progress 1986-2016 Part II

Dr. Holmes Morton MD Pediatrician, Central Pennsylvania Clinic Belleville, Pennsylvania

Phenylbutyrate Therapy for MSUD

Brendan Lee, MD, PhD Department of Molecular and Human Genetics Baylor College of Medicine

Gene replacement and genome editing in the treatment of liver metabolic diseases

James M. Wilson, MD, PhD Director, Orphan Disease Center Director, Gene Therapy Program Medicine and Pediatrics, Perelman School of Medicine, University of Pennsylvania

Developing Therapeutics for the Treatment of (Ultra) Orphan Diseases

Robert D. Steiner, MD, CMO – Acer Therapeutics Clinical Professor, University of Wisconsin

2016 Symposium – MSUD Patients

MSUD patients speaking about their experiences.

2016 Symposium – MSUD Parents

Parents of MSUD children speaking about their experiences.