Research Centre for Medical Genetics
1 Moskvorechye St,
Moscow 115522, Russian Federation
Mo-Fr: 9:00 - 17:00

Sergey Kutsev Said: «The Aim of Geneticists Today - «To Set a Trap», to Identify Patients With Suspicion of Hereditary Diseases and to Make the Right Diagnosis»

The conference was hosted by the Association of Medical Geneticists, co-hosted by the Russian Society of Medical Geneticists and the Research Centre for Medical Genetics.

The conference attracted more than two thousand participants.

The experts discussed the international and Russian experience of neonatal screening, evaluation of patients in the case of orphaned neuromuscular diseases by magnetic resonance imaging (MRI), scales and imaging of muscles, rare cases of differential diagnostics in neurology, new opportunities in the treatment of spinal muscular atrophy, «weird» patients in the practice of nephrologists, neurologists and cardiologists, as well as orphaned diseases hidden under the mask of cerebral palsy.

Professor, Holder of an advanced doctorate in Medical Sciences, Sergey Kutsev, the Director of the Research Centre for Medical Genetics, Chief external expert in medical genetics of the Ministry of Healthcare of the Russian Federation, corresponding member of the Russian Academy of Sciences, opened the plenary session «Hereditary metabolic diseases and neonatal screening» with his speech and report «Neonatal screening in the diagnostics of hereditary diseases». He noted the following:

“New technologies allow to make neonatal screening more effective. It is worth noting tandem mass-spectrometry which is an effective method allowing you to obtain many indicators quickly from a small amount of blood sample and to form a risk group for hereditary metabolic diseases. The method can detect about forty metabolic disorders of amino-acids, organic acids, fatty acids oxidation disorders, fifteen lysosomal accumulation diseases, fifteen peroxisome diseases. I would like to mention separately the methods of DNA analysis for immunodeficiency, spinal muscular atrophy and the use of new generation methods of sequencing for most hereditary diseases in the future”.

In addition, the plenary session of the conference featured presentations highlighting various aspects of neonatal screening by:

- Professor , Holder of an advanced doctorate in Medical Sciences, Vera Izhevskaya, Chairman of the Russian Society of Medical Geneticists, Deputy Director for Scientific Work of the Research Centre for Medical Genetics, «International View on Screening: General Questions». The problems of neonatal screening concerning ethics, social and legal issues were highlighted. Vera Izhevskaya noted that the screening of newborns is not just a testing, it is a public healthcare strategy used to identify certain diseases in the first days of life and promoting early treatment before symptoms appear. There is such a concept as «Parens patriae». It is the legal doctrine giving the right to the state to take the responsibility to protect the interests of children who cannot to defend themselves yet. It is very important to consider the type of disease and the object of research, the possibility of hyper-diagnostics (appearance of false positive results) and the information that the society and parents receive about screening, the problem of data protection as well as the problem of screening´s fairness (proportionality of economic costs and potential benefits)

- Professor, Holder of an advanced doctorate in Medical Sciences, Ekaterina Zakharova, Head of the hereditary metabolic diseases laboratory at the Research Centre for Medical Genetics, «Hereditary metabolic diseases and new technologies: yesterday, today, tomorrow». She noted:

“21-st century screening for hereditary diseases in healthy newborns may include targeted metabolome (tandem mass-spectrometry method) and targeted exome for diseases for which treatment exists. It should be noted that screening is not only newborns. Today, there is a growing view of this problem in the world, especially for the diseases with delayed manifestation. Screening can be directed to any age group. For instance, a pilot project has been launched in Italy to test boys for Duchenne´s myopathy between the ages of six and forty two months (determination of the CFC biochemical activity level). Scientists are considering this approach to be more effective. Importantly, the family will be able to receive this information better with a raised child with minimal clinical symptoms of the disease”.

“In addition, screening for hipercholesterinemia in children and adolescents is of great interest,”- concluded Ekaterina Zakharova.

The reports of doctors and researchers of the scientific advisory department at the Research Centre for Medical Genetics were given within the section «Rare cases in neurology». Professor Galina Rudenskaya, chief researcher of scientific advisory department at RCGM, told about atypical and combined phenotypes of hereditary diseases. Aysulu Murtazina, the researcher of the scientific advisory department at RCMG, focused on the difficulties in differential diagnostics of rare variants of hereditary myopathy. Inna Sharkova, leading researcher of the scientific advisory department at RCMG, PhD, told about hereditary myasthenias which belong to the unique group of neuromuscular diseases. Artem Borovikov, researcher of the scientific advisory department at RCMG, told about cortical dysplasias which are a new group of diseases, their clinical manifestations and therapy.

According to Sergey Kutsev, the Government of the Russian Federation decided to expand screening from five to thirty six diseases in 2023: twenty nine metabolic diseases detected by the method of tandem mass-spectrometry, two hereditary metabolic diseases (galactosemia and deficiency of biotinidase), detected by fluorometric method, congenital hypothyroidism, cystic fibrosis and adreno-genital syndrome, detected by enzyme immunoassay (EIA) and two hereditary diseases which will be detected by molecular genetic methods - SMA and primary immunodeficiencies.

“The introduction of screening will help to reduce infant mortality by thirteen percent. Of course, this is a very cautious projection. It’s about ten thousand lives saved over ten years, ten thousand families that can plan childbirth. This is also a good result for the healthcare system because a large number of children will receive medical care with a clear diagnosis. And they will not go to this diagnosis for several years,” - concluded Sergey Kutsev.

More information about the conference can be found here

"Diagnosis and Treatment of Orphan Diseases", Symposium «Practices for Practitioners»

"Diagnosis and Treatment of Orphan Diseases", plenary session «Hereditary Metabolic Diseases and Neonatal Screening»

"Diagnosis and Treatment of Orphaned Diseases", Section «Rare Cases in Neurology»

"Diagnosis and Treatment of Orphan Diseases", Symposium «Evaluation of the Condition of Orphaned Neuromuscular Diseases: Clinical Scales and Imaging of Muscles»