Gene Therapy Treatments For MSUD

Principle Investigator: Dr John Counsell, Associate Professor, University College London Researchers at UCL are working on two promising gene therapy treatments for MSUD. The first method uses an optimised gene delivery technology to treat the liver, with the aim of permanently restoring functional metabolism in liver cells for the rest of the patient’s life. The […]

An Electrochemical Biosensor for BCAA Monitoring

Princ. Investigator: Lital Alfonta of Ben Gurion University of the Negev, Israel Orna Staretz-Chacham, Metabolic Physician The goal of this project is to develop an electrochemical biosensor that can be used for non-invasive BCAA monitoring to provide quick and accessible results for timely treatment decisions. This biosensor will utilize amino acid-specific enzymes to ensure specificity […]

Adeno-Associated Viral Vector-Mediated BCKDHA Gene Replacement Therapy In A Bovine Model Of Classical Maple Syrup Urine Disease

Princip. Investigator: Kevin A. Strauss; Medical Director, Clinic For Special Children Senior Investigator: Gaungping Gao, University of Massachusetts School of Medicine’s Horae Gene Therapy and Li Wiebo Institute for Rare Diseases Research and the Clinic for Special Children     The goal of this project is to test an adeno-associated viral vector (AAV) gene therapy […]

Neurocognitive Outcomes and Quality of Life in Adults with MSUD

Neurocognitive Outcomes and Quality of Life in Adults with MSUD Dr. Jessica Gold Children’s Hospital of Philadelphia   Thanks to medical advances like newborn screening people with MSUD are living longer and healthier lives. Patients are now reaching previously unobtainable milestones. Many desire to live independently, have a job, and start a family. While the […]

Using a Yeast Model of MSUD to Understand Pathology

Using a Yeast Model of MSUD to Understand Pathology Dr. Ehud Gazit Tel Aviv University   MSUD affects metabolism in many ways. Improved understanding of the mechanisms by which MSUD affects physical and mental health is an essential step in developing improved treatments. To this end, Dr. Ehud Gazit has developed a model of MSUD […]

NBS Connect

NBS Connect Dr. Rani Singh Associate Professor and Director, Division of Medical Genetics, Nutrition Section, Emory School of Medicine   This project led to the development of NBS Connect, an internet-based registry and support network for parents and individuals with inborn errors of metabolism. The site was managed by staff from Emory University Department of […]

Mouse Model

Mouse Model Dr. Susan Hutson Wake Forest University   Dr. Hutson and colleagues developed a mouse model of Classic MSUD with the aim of understanding the molecular basis for the effects of MSUD on the central nervous system and body metabolism. They previously generated a mouse containing a knockout (KO) of the mitochondrial branched chain […]