Development of neuroprotective gene therapy for MSUD
Awardee: John R Counsell
Institution: UCL
Grant Amount: $71,985.00
Funding Period: February 1, 2023 - January 31, 2024
Summary:
We are seeking to develop a treatment for a severe metabolic disease called Maple Syrup Urine Disease (MSUD) that results from an inability to break down substances that most of us consume daily, when following a normal diet. MSUD patients are at risk of life-threatening brain damage unless they have their diet carefully managed from birth. Even then, patients remain at risk of brain damage during periods of illness, normally due triggered by infections. At University College London, we are developing a potential cure for MSUD using a technique called gene therapy, whereby a set of genes that are defective in MSUD can be restored in relevant parts of the body. However, it is not currently known whether gene therapy needs to be targeted to the brain as part of a curative strategy. Therefore, our research team aim to investigate this, using a mouse model of the disease, with our hypothesis being that brain cells will need to be targeted in order to fully restore healthy brain development during in early childhood.