However, it is not currently known whether gene therapy needs to be targeted to the brain as part of a curative strategy. 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. Even then, patients remain at risk of brain damage during periods of illness, normally due triggered by infections. MSUD patients are at risk of life-threatening brain damage unless they have their diet carefully managed from birth. 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. Immediate monitoring of amino acids is especially crucial in the developmental phase of people (i.e. In addition, neonates are routinely scanned for amino acid levels, and the novel technology can supply immediate results. This will enable real-time diet recommendations and forgo the need for a weekly hospital visit. We propose to develop a technology based on bioelectrochemistry, which combines optimization of protein function with synthetic biology tools in order to create accurate and specific sensors for immediate monitoring of the relevant amino acids. Currently, the amino acid levels of children with MSUD are monitored weekly at the hospital, and the results arrive only after several days. Children with MSUD must remain on a special diet that restricts the consumption of those three amino acids. The disease is more common in Ashkenazi Jews, and in the Bedouin population in the South region of Israel. Blood tests show high levels of three amino acids (leucine, isoleucine and valine), that can lead to life-threatening cerebral oedema and dysmyelination in affected individuals. MSUD is a serious genetic condition caused by a deficiency or a mutation in the enzyme keto-acid-dehydrogenase. The project aims at developing a non-invasive home test for immediate monitoring of the orphan condition Maple Syrup Urine Disease (MSUD).
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