Rare Disease Day

Orphan diseases in the Russian Federation include nosologies with a prevalence of less than 10 per 100,000. According to the Orphanet website, 71.9% of rare diseases are genetic, and 69.9% which are exclusively pediatric onset. Rare diseases can also be of infectious, autoimmune or toxic origin. About 2 million people in the Russian Federation suffer from rare diseases.

The Research Centre for Medical Genetics is a key link in the chain of patient help in the domain of orphan diseases. More than 90% of diagnoses of hereditary diseases in Russia are made here. More than 67,000 studies have been performed at the Research Centre for Medical Genetics in 2021, specialists of the centre have received more than 11,000 patients.

Ekaterina Zakharova, Chairman of the Expert Board of the Russian Society of Orphan Diseases, Member of the Expert Council on Rare Diseases under the of the State Duma Healthcare Committee, Head of the Laboratory of Hereditary Metabolic Diseases of the Research Centre for Medical Genetics, Holder of an Advanced Doctorate (Doctor of Science) notes: “From the point of view of laboratory technologies around the world and here in Russia, of course, there has been a huge breakthrough. A very accurate diagnostic method has appeared - new generation sequencing, which means that in one analysis we can look at some group of genes or all human genes. Thanks to biochemical examination methods, such as tandem mass spectrometry, it is possible to look at hundreds of metabolites in one analysis. This gives us the opportunity to apply these tests in a small amount of newborn blood. As for the stage of clinical diagnostics, there has also been a positive shift. More and more people started talking about orphan diseases, holding more events and seminars. Of course, doctors have become better at recognizing these pathologies.”

Ekaterina Zakharova also added: “It is very important that there is a day dedicated to talk about rare diseases and the problems of patients with these diseases. Orphan diseases form a very complex area of medicine, on the one hand, and a difficult task for the healthcare system, on the other. In order to improve the quality of help to these patients, - an early diagnosis, scientific research, registries and, of course, the provision of rather expensive drug supply are needed.”