Research and Counseling Department
The research work of the Department aims at increasing effectiveness of medical genetic counseling (MGC) of families burdened with hereditary diseases. The focus is on improving the methods of diagnosing any monogenic diseases and chromosomal syndromes, accompanied by symptoms of the nervous system impairment. The research is closely related to practical work of the Counseling and Outpatient Department and is conducted in collaboration with other laboratories of RCMG (laboratories of DNA-diagnostics 1 and 2, Hereditary Metabolic Diseases Laboratory, Molecular Cytogenetic Laboratory, etc.), as well as a number of other medical institutions undertaking molecular genetic diagnosis of hereditary diseases.
- Markova Tatyana Vladimirovnaleading research scientist
- Rudenskaya Galina EvgenievnaChief scientific officer
- Sharkova Inna Valentinovnaleading research scientist
- Semenova Natalia AlexandrovnaSenior Researcher
- Vasiliev Petr AndreevichResearcher
- Borovikov Artem OlegovichResearcher
- Akimova Irina AlekseevnaResearcher
The research work has had several main areas over the years
- The study of clinical and genetic characteristics, etiopathogenesis, algorithms for diagnosis and prevention of various monogenic diseases and chromosomal syndromes, accompanied by the nervous system abnormalities. The main groups of monogenic neurological diseases that are in the scientific interests of the Department are motor-sensory neuropathies, progressive muscular dystrophy, spinal muscular atrophy, epilepsy, nonspecific mental retardation and spastic paraplegia. Based on the analysis of clinical and genetic characteristics of the examined disease groups, and in collaboration with colleagues from the DNA- Diagnostics Laboratory, diagnostic algorithms for heterogeneous groups of neuromuscular diseases, hereditary epilepsy and spastic paraplegia have been developed. The use of these algorithms in the practical work of a geneticist can reduce the time and economic costs for expensive molecular genetic diagnostics and increase the effectiveness of preventing the repeated cases of the disease in burdened families. Based on a unique in volume and nosological spectrum sample of patients with verified cases of rare hereditary diseases and syndromes caused by the previously unidentified mutations in genes, a description of clinical and genetic characteristics and mechanism analysis is made. The research focuses on hereditary syndromes, accompanied by mental retardation and seizures. In collaboration with the Molecular Cytogenetics Laboratory, studies are conducted on the analysis of mechanisms and clinical manifestations of microchromosomal syndromes diagnosed using microchromic micromatrix analysis. The obtained results allow us to improve the calculations of the risk of repeated birth of a child with chromosomal abnormality in burdened families.
- Over the past year, the team of the Research and Counseling Department took part in the studies analyzing the effectiveness of pathogenetic therapy of certain hereditary diseases - adrenoleukodystrophy, mucopolysaccharidosis 1 and 2 types, Duchenne muscular dystrophy, neuronal ceroid lipofuscinosis 2, Gaucher disease.
- For several years, the team of the Research and Counseling Department have conducted a research on evaluating the MGC effectiveness based on the analysis of some specially created questionnaires, in-person or in absentia survey of some categories of consulting families at different stages of counseling. As a result of the research we assessed the effectiveness of counseling pregnant women from a risk group for the occurrence of chromosomal abnormality and congenital fetal malformations according to the data of early prenatal screening. Based on the analysis of the attitude of parents of children with phenylketonuria to prenatal diagnosis before the consultation, immediately after it and as time passed, the recommendations were developed to improve the effectiveness of medical and genetic counseling for families with autosomal recessive diseases that undergo therapeutic correction. Today, the development of this research area has been completed.
- The long-term participation of the team of the Research and Counseling Department in genetic and epidemiological studies of hereditary diseases in Russian populations in collaboration with the Genetic Epidemiology Laboratory is an important aspect of scientific work. Based on the diagnostic work of the team of the Research and Counseling Department, they managed to obtain data on the nosological spectrum and frequencies of various groups of hereditary diseases of the nervous system and monogenic syndromes in the populations of Tatarstan, Udmurtia, Mari El, Bashkortostat, Karachay-Cherkessia, etc.