Publication date: 22 july 2020
Over the past five years, Aston Health in collaboration with Medical Genetics Center and the Association of Medical Geneticists has been involved in the project "Audit of neonatal screening and care delivery to patients with orphan diseases".
The project is focused on the challenges related to diagnosis and treatment of phenylketonuria in Russia. During the online conference "New Technologies in the Diagnosis and Treatment of Hereditary Diseases " held on July 21-22, 2020 the data from the Audit was presented Sergey Kutsev, Chief Specialist for Medical Genetics in his report "PKU Registry: Efficient Resource in Developing Diagnostic and Treatment Strategy".