Rare genetic diseases are often neglected by both society and pharmaceutical industry due to low numbers of those affected, which makes the development of the treatment highly unprofitable. One of such diseases is phenylketonuria (PKU), a rare genetically inherited condition, which is defined by the inability of an organism to break down amino acid phenylalanine. As a result, excess phenylalanine accumulates in the brain of the patient, affecting its function and causing severe mental retardation. The only available treatment nowadays is a strict low-protein diet and powdered phenylalanine-free meal which is very limited in taste and form.
This year, an iGEM team from Vilnius, Lithuania, is determined to help the ones suffering from this rare genetic condition. The treatment we propose is a probiotic, which would either take in excess phenylalanine or break it down in the gut of the patient, preventing the symptoms of the disease. The final product will be presented in the form of a gastro-resistant pill, which would be accessible and easy to use.