In 2016, the Research Centre for Medical Genetics together with the professional non-profit organization Association of Medical Geneticists initiated the project «Audit of medical care for patients with orphan diseases». JSC «Aston Consulting» was chosen as a technical operator, which has extensive experience in creating and maintaining clinical databases. JSC «Aston Consulting» has a long-term partnership with the Association of Medical Genetics and provides technical support from the very beginning of the project, and also has the rights of an exclusive supplier of analytical reports based on the Audit data. The project has been actively expanded and currently includes patients suffering from phenylketonuria, mucopolysaccharidoses, Niemann-Pick disease, Fabry disease, Pompe disease, spinal muscular atrophy, Duchenne myodystrophy, familial Mediterranean fever and other hereditary orphan diseases. As a result of the work of a multidisciplinary team a unique database of patients with hereditary orphan diseases is being formed. The database has a great scientific and practical importance, as it allows to summarize the available data on the prevalence of hereditary diseases, the effectiveness of diagnostics and treatment of patients. The first pilot program was the «Audit of newborn screening and medical care for patients with phenylketonuria and other types of hyperphenylalaninemia», which resulted in the «Registry of patients with phenylketonuria and other types of hyperphenylalaninemia in the Russian Federation: 2021» published in this issue.