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Results of the first month of the Tuberous Sclerosis Diagnostic Program

On February 14, 2022, a press conference was held at the press center of “Izvestia” multimedia information center and highlighted the topic of “The Launch of the Tuberous Sclerosis Diagnostic Program”.

The conference was attended by:

  • Sergey Kutsev, Director of the Research Centre for Medical Genetics, Chief external expert in medical genetics of the Russian Ministry of Healthcare;
  • Vladimir Strelnikov, Head of the Laboratory of Epigenetics of the Research Centre for Medical Genetics, Professor of the Department of Genetics and Medical Genetics of the Pirogov Russian National Research Medical University;
  • Marina Dorofeeva, Leading Researcher, Department of Psychoneurology and Epileptology of the Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University;
  • Ekaterina Ostrovskaya, Medical Director of “Novartis Oncology”

The All-Russian program for the diagnosis of tuberous sclerosis was launched at the Research Centre for Medical Genetics in January 2022. During this period, the laboratory of epigenetics received 80 calls, 36 samples have already been analyzed by today, and the diagnosis was confirmed in 22 cases.    

“The problem of orphan diseases is relevant for Russia, as well as for the whole world. The issue of identifying diseases with an existing pathogenetic treatment is particularly iminent. Currently, there are approaches to the treatment of more than 300 diseases, and tuberous sclerosis is among them. The most important thing today is the alertness of doctors and the availability of molecular research,” according to Sergey Kutsev, Director of the Research Centre for Medical Genetics, Chief external expert in medical genetics of the Russian Ministry of Healthcare, Corresponding Member of the Russian Academy of Sciences.

Experts inform that here may be more confirmed cases of the disease among the samples already received by the laboratory of epigenetics. The protocol of the study was designed at the Research Centre for Medical Genetics and consists of two stages. At the moment only the first stage has been carried out. In cases where DNA sequencing did not reveal a mutation, an additional study is carried out using the MLPA method, which makes it possible to determine large deletions. Repeated sampling of the biomaterial is not necessary.

“From 2013 to the present, we have performed more than 700 molecular genetic studies for patients with clinical signs of tuberous sclerosis. Thus, we have gained a unique experience in this area. Study of the nature of the observed mutations showed a high frequency of mosaic cases - when the mutation is not inherited from the parent, but occurs at an early stage of embryo development and is not present in all cells of an adult. This situation is fraught with a false negative diagnostic result, since, for example, in a blood sample, which is most often used for DNA diagnostics, the proportion of cells with mutations can be very small. In such cases, exome and genomic DNA sequencing may not be effective, and only very deep sequencing of just two tuberous sclerosis genes, TSC1 and TSC2, can identify the molecular cause of the disease. These tests are carried out in our laboratory and in combination with specially developed data analysis software it leads to reliable results,” says Vladimir Strelnikov, Ph.D., Head of the Laboratory of Epigenetics.

Tuberous sclerosis is a multisystem disease. Patients can be observed by doctors of different specialties: neurologists, cardiologists, pediatricians. Marina Dorofeeva, neurologist-epileptologist, doctor of the highest category, Ph.D., Leading Researcher of the Department of Psychoneurology and Epileptology of the Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, President of the Interregional Charitable Public Foundation for Helping Patients with Epilepsy “Sodruzhestvo”, emphasized that tuberous sclerosis is one of the most common disease among rare diseases.

“Tuberous sclerosis can be suspected already in utero.  Heart tumors that can be detected in the fetus from the 20th week of pregnancy are the first sign of the disease. Hypopigmented macules may be present at birth. These two features make it possible to clinically diagnose tuberous sclerosis. However, genetic studies can reveal the deeper causes of the disease, determine which gene function is turned out and brought to the development of the disease. In addition to the correct and timely choice of therapy, these studies are also important for further family planning, in order to be sure that the birth of a child with tuberous sclerosis will not happen again in this family,” pointed Marina Dorofeeva.

The diagnostic program makes molecular testing available to patients under the age of 18 throughout Russia: they do not need to pay for testing, nor do they need to come to the diagnostic center. Doctors can contact the hotline at 8-800-100-31-87 from 4:00 to 19:00 Moscow time. The operator accepts the application, informs the patient's unique code and coordinates the date, time, and place of the courier's departure with the doctor. The program is supported by Novartis.