Orphan diseases in Russia
The level of development of medical genetics in our country corresponds to the global
This was written by the press center of the Ministry of Education and Science of the Russian Federation - he knows better.
The transition to personalized medicine, high–tech healthcare and health-saving technologies is one of the priorities of the scientific and technological development of the country. In 2021, a progressive tax is being introduced in Russia – the personal income tax rate will increase from 13 to 15% for citizens whose income exceeds 5 million rubles a year. Part of the proceeds, on behalf of President Vladimir Putin, will be directed to the trust fund for the treatment of children with orphan (rare) diseases. There are only a few research centers and laboratories in Russia where orphan diseases and gene pathologies are studied. We tell about three of them in our material.
Laboratory "Molecular Medicine and Human Genetics" NEFU
On the basis of the Medical Institute of the Northeastern Federal University named after M.K. Ammosov, the laboratory "Molecular Medicine and Human Genetics" was created, where the causes and mechanisms of the development of orphan and multifactorial diseases are studied, as well as ways to diagnose and prevent them. According to Polina Golikova, a senior researcher at the laboratory, a special place in the work is occupied by the study of genetic diseases characteristic of representatives of the Yakut ethnic group. Among them are SOPH syndrome, which leads to stunting with optic nerve atrophy, the 3rd syndrome, the so-called "Yakut stunting syndrome", congenital deafness of the first A type, hereditary methemoglobinemia and mucopolysaccharidosis-plus syndrome.
The laboratory "Molecular Medicine and Human Genetics" works in close cooperation with the National Center of Medicine of the Republic of Sakha (Yakutia). All NEFU developments – new methods of diagnosis and treatment – are immediately introduced into practical healthcare.
Currently, the possibilities of genetic engineering are reaching a qualitatively new level. Treatment of diseases at the genetic level reduces the severity of the severity of diseases and prolongs the life of patients in many ways. However, there is a problem that all industry specialists and patients face – the very high cost of treatment. Grant support, including in the field of studying the specifics of genetic diseases, according to Polina Golikova, is more necessary and important than ever.
One of the main tasks facing the laboratory "Molecular Medicine and Human Genetics" of NEFU is the prevention of children's genetic and hereditary diseases. The laboratory is developing new accurate diagnostic methods and test systems, promising young employees with international medical experience are involved in the work. In the near future, the laboratory plans to expand – within the framework of the State Task, departments of genomic editing and proteomics will be opened to study the mechanisms of development of orphan diseases and search for new approaches to their treatment.
Medical and Genetic Research Center named after Academician N.P. Bochkov
MGNC im. Academician N.P. Bochkova also specializes in the study of orphan diseases. The Center became the coordinator of the Russian segment of the international Orphanet network (www.orpha.net ). The Orphanet Consortium was established in 1997 in France as one of the projects of the EU program to support patients with orphan (rare) diseases. In 2000, the Orphanet network opened an information portal dedicated to rare diseases and orphan drugs. Today it is the largest consortium that provides information in eight world languages.
Employees of the Center study the specifics and are engaged in the prevention of the spread of hereditary pathologies in the regions. In 2019, the specialists of the MGNC carried out a consultative reception of 11 thousand patients and conducted over 13 thousand genetic studies within the framework of the state task. The Center is the first in Europe in terms of the number of hereditary diseases diagnosed and the only organization in Russia that performs high-tech genetic tests on a budget basis in such volume.
The Center develops new unique methods of diagnosing diseases. In the laboratory of functional genomics, splicing and other mechanisms are being investigated, failures in which lead to the development of orphan diseases. A new, unique method of functional analysis is being developed for each individual patient. Last year, the genome editing laboratory became the first in Russia to work with stem cells of patients with cystic fibrosis. The laboratory staff is studying somatic cells, skin cells whose genome changes will not affect the likely descendants of the patient. First, the cells of the skin epithelium of patients with cystic fibrosis are reprogrammed into stem cells and then researchers conduct experiments – they try to "cut out" the mutation.
"The level of development of medical genetics in our country corresponds to the global one. In Russia today, there are opportunities to apply all modern approaches to the diagnosis and prevention of hereditary diseases. Genome-wide studies, chromosome analysis, approaches to the prevention of hereditary and congenital pathology are developing. At the same time, the technologies owned by doctors in the Russian Federation do not differ from the technologies used in developed countries. Today our paradigm is changing: we are no longer talking about symptomatic, but about pathogenetic treatment, about the development of modern technologies such as gene therapy. We have come very close to obtaining medicines for the treatment of a number of hereditary diseases. Joint work with the international Orphanet consortium will allow us to take further steps in this direction," said Sergey Kutsev, Director of the MGNC, Chief freelance specialist in medical genetics of the Ministry of Health of Russia.
Laboratory of Orphan Diseases Therapy at MIPT
The Phystech laboratory is developing gene therapy for the treatment of rare hereditary human diseases. Within the framework of joint work with the National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation, laboratory specialists are working on the creation of therapy for congenital dysfunction of the adrenal cortex – a group of diseases caused by a violation of steroidogenesis as a result of deficiency of one of the enzymes involved in the synthesis of cortisol. The therapy strategy proposed by the laboratory is based on the integration of a normal copy of the gene into the genome of the adrenal cortex stem cells to ensure a lifelong therapeutic effect, which will become an alternative to hormone therapy currently used. The project uses the CRISPR/Cas9 genomic editing system and vectors based on adeno-associated viruses. At the moment, scientific experiments are being conducted to verify the operability of the chosen strategy and evaluate its effectiveness.
In addition, the laboratory of genomic engineering at MIPT, commissioned by the company "Artyom", is developing a gene therapy for cone dystrophy of the retina with an altered rod response. This is an autosomal recessive orphan disease of the retina caused by a gene mutation that leads to progressive blindness. Laboratory specialists have determined that the use of adeno-associated vectors is effective and safe in the development of therapy for congenital diseases of various organs. In case of successful testing, the proposed therapy will stop the loss of vision in people with a mutation in this gene, and will also help restore vision to patients who have already gone blind due to hereditary pathology.
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