A5066625089- Prenatal Screening and Diagnostics
- BRCA gene mutations in cancer
- Fetal and Pediatric Neurological Disorders
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Ethics in Clinical Research
- Parvovirus B19 Infection Studies
- Congenital Anomalies and Fetal Surgery
- Cancer Genomics and Diagnostics
- Digestive system and related health
- PI3K/AKT/mTOR signaling in cancer
- Assisted Reproductive Technology and Twin Pregnancy
- Autopsy Techniques and Outcomes
- CRISPR and Genetic Engineering
- Cancer-related Molecular Pathways
- Genomic variations and chromosomal abnormalities
- Ethics and Legal Issues in Pediatric Healthcare
- Advanced Breast Cancer Therapies
- TGF-β signaling in diseases
- Cardiac Fibrosis and Remodeling
- Spacecraft and Cryogenic Technologies
- Aerospace Engineering and Energy Systems
- Cystic Fibrosis Research Advances
- Cryptography and Residue Arithmetic
- Advanced Steganography and Watermarking Techniques
Russian Medical Academy of Continuous Professional Education
2020-2023
Ministry of Health of the Russian Federation
2023
First Pavlov State Medical University of St. Petersburg
2019
Research Institute of Medical Genetics of Russian Academy of Medical Sciences
2016
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov of the Ministry of Healthcare of the Russian Federation
2016
Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful sharing relies on public support, which requires attention whether people around world are willing donate their that then subsequently shared with others for research. However, studies such perceptions geographically limited do not enable comparison. This paper presents results from a very large survey attitudes toward sharing. Data 36,268 individuals 22...
Abstract Background Public trust is central to the collection of genomic and health data sustainability research. To merit trust, those involved in collecting sharing need demonstrate they are trustworthy. However, it unclear what measures most likely this. Methods We analyse ‘Your DNA, Your Say’ online survey public perspectives on including responses from 36,268 individuals across 22 low-, middle- high-income countries, gathered 15 languages. examine how participants perceived relative...
Malignant neoplasms, including pancreatic cancer and melanoma, are major global health challenges. This study investigates melanoma syndrome, a rare hereditary tumor syndrome associated with CDKN2A gene mutations. mutations contribute to lifetime risk of ranging from 28% 67%. reports the clinical features six individuals identifies recurrent alterations such as c.307_308del, c.159G>C c.71G>C. It highlights need for mutation testing in suspected cases familial atypical multiple mole melanoma....
The aim of this study was to determine how attitudes toward the return genomic research results vary internationally.We analyzed "Your DNA, Your Say" online survey public perspectives on data sharing including responses from 36,268 individuals across 22 low-, middle-, and high-income countries, these were gathered in 15 languages. We participants responded when asked whether (RoR) would motivate their decision donate DNA or health data. examined variation countries compared other with those...
A fast adoption of a non-invasive prenatal testing (NIPT) in clinical practice is global tendency last years. Firstly, Russia according new regulation it was possible to perform widescale pregnant women chromosomal abnormality risk. The aim the study-to assess efficiency using NIPT as second-line first trimester screening test Moscow.Based on combined results 12,700 were classified high-risk (cut-off ≥ 1:100) and an intermediate-risk 1:101 - 1:2500) groups followed by whole genome NIPT....
More than 275 million people in the world are carriers of a heterozygous mutation CFTR gene, associated with cystic fibrosis, most common autosomal recessive disease among Caucasians. Some recent studies assessed association between variants and some pathologies, including cancer risk. The aim this study is to analyze landscape germline pathogenic patients diagnosed malignant neoplasms. For first time Russia, we evaluated frequency by whole-genome sequencing 1800 compared frequencies control...
Cutaneous symptoms in some patients with clinical picture of Schimmelpenning-Feuerstein-Mims syndrome can include a speckled lentiginous nevus, also known as nevus spilus. Recent investigations show that somatic heterozygous HRAS mutations are present the sebaceous and tissues combination two nevi.
The objective — To assess the effectiveness of including NIPT in structure prenatal diagnostics Moscow. Material and Methods Totally 5,181 pregnancies undergoing screening for fetal trisomy using during period from 01.04.2020 to 30.09.2020 Russia. According results biochemical blood test, patients were divided into two groups: group high risk (cut-off ≥1:100) (n=208) intermediate 1:101 – 1:2500) (n=4,973). Patients at high-risk cell-free DNA (cfDNA) offered an invasive procedure, followed by...
Currently, a significant part of research in the fields human and medical genetics is carried out using tissue samples, genealogical, population, personal data. Their use particular relevance “genome era”, since only joint analysis genomic data health status population crucial for understanding how genes are associated with disease. Genetic studies adults without symptoms diseases to obtain on possible predisposition multifactorial diseases, establish carrier autosomal recessive mutations as...
Russia and other countries report an increase in the incidence of malignant neoplasms, approximately 10 % all oncological cases have hereditary background. Molecular genetic testing patients with diagnosed neoplasms a suspected factor will help to select effective modern methods treatment prevention development localizations.
 According study, 12,6 had cancer syndrome, which allowed administer molecular tests patients’ relatives. Consequently, it becomes possible detect risk factors,...
Полногеномное и полноэкзомное секвенирование имеет общепризнанную клиническую значимость для диагностики орфанных заболеваний. Вследствие развития технологии секвенирования последующего снижения затрат на тестирование, данные методы все чаще используются не только в клинических целях, но качестве инструмента скрининга здоровых индивидов. При проведении исследования по поводу подозрения генетическое заболевание семье при тестировании здорового человека «по желанию» могут быть выявлены...
Objective . Metabolic syndrome (MS) increases the risk of atrial fibrillation (AF). The probability incident AF in case fibrosis and remodeling. Transforming growth factor beta 1 (TGF-β1, encoding gene TGFB1) induces myocardial fibrosis, particular, atria. We analyzed distribution CC, CG GG genotypes G/C+915 polymorphism TGFB1 patients with MS AF. Design methods included 426 subjects (30–65 years old): 222 MS, including 115 paroxysmal permanent control group 209 healthy individuals without...
The article describes an acardiac fetus in a patient with monochorionic diamniotic twin pregnancy reversed arterial perfusion syndrome at 30 weeks' gestation. It gives postmortem fetal computed tomographic and pathoanatomic data. Microarray of tissues revealed that there was deletion chromosome 19 - arr [hg19] 19p13.3q11 (260,911-23,005,001) x1; size, 23 Mbp; the signal level about 30% tissue cells containing deletion.Представлено описание плода-акардиуса у пациентки с монохориальной...
Congenital malformations, chromosomal and monogenic disease play a significant role in perinatal mortality child disability. According to the early prenatal screening results Russian Federation 2018, overall ratio of anomaly prevalence is 1:250–1:300. Currently aneuploidy risk calculated by using indirect biochemical ultrasound markers, that have low sensitivity specificity which can cause false positives negative leading unreasonable invasive procedures or missing anomalies. It well known...
Introduction: Vulto-van Silfhout-de Vries Syndrome (VSVS; OMIM#615828) is a rare hereditary disease associated with impaired intellectual development and speech, delayed psychomotor development, behavioral anomalies, including autistic traits poor eye contact. To date, 27 patients VSVS have been reported in the literature. Materials Methods: We describe 23-year-old male patient autism spectrum disorder (ASD) who was admitted to gastroenterological hospital signs of pseudomembranous colitis....
Non-invasive prenatal testinging (NIPT) is a relatively new method aimed at detecting fetal chromosomal aneuploidies by analyzing extracellular fetoplacental DNA in the blood of pregnant woman. NIPT has high sensitivity and specificity, many professional communities now recommend its use as screening method. Since introduction into clinical practice Hong Kong 2011, expanded rapidly around world. The experience various countries organizing non-invasive testing described this article. Key...
The modern definition of the genetic counselling and its history as well general approach estimate efficiency are shown in this review. It is emphasized role counselors' psychological pedagogical skills important for efficiency counseling. Also it necessary to attract professional psychologists in genetics educational process.
The article presents our experience with the method of array comparative genomic hybridization (aCGH) during examining fetuses increasing nuchal translucency and normal karyotype in I trimester pregnancy. On basis recommended algorithms pathogenic likely copy number variation (CNV) were identified 8.3% cases. One CNV was presented as a rare 13q deletion syndrome. Pregnancy this syndrome terminated due to association severe malformations fetus. CGH can be applied an essential complement...