High-performance DNA sequencing to identify genetically determined diseases in pediatric practice

Воинова, В. Ю.; Николаева, Е. А.; Shcherbakova, Natalia; Яблонская, М И

doi:10.21508/1027-4065-2019-64-1-103-109

Cited by 4 publications

(2 citation statements)

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“…Обоснованная уверенность в клиническом диагнозе, как правило, позволяет назначать таргетную диагностику с анализом конкретного гена. В случае недостаточной специфичности клинических проявлений и необходимости дифференцирования со многими схожими заболеваниями предпочтительно применение технологии секвенирования нового поколения -NGS (Next-Generation Sequencing) [9,10]. При этом во многих случаях целесообразно использовать генетическую панель, включающую несколько десятков или сотен генов, мутации которых могут вызывать заболевания, фенотипически сходные с болезнью пробанда.…”

Section: результаты и обсуждениеunclassified

“…Для интерпретации данных, полученных методом NGS, проводится биоинформатический анализ, который в трудных ситуациях требует пересмотра. Следует учитывать, что экзомное секвенирование имеет ряд ограничений, не позволяя, в частности, выявлять делеции >10-50 пар нуклеотидов [4,10]. Если генетическое подтверждение диагноза по-прежнему не получено, в каждой конкретной ситуации индивидуально решается вопрос о возможном продолжении молекулярно-генетических исследований другими методами, например путем использования хромосомного микроматричного анализа [11].…”

Section: результаты и обсуждениеunclassified

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The structure of hereditary diseases in children hospitalized in a specialized clinic

Николаева

Боченков

Данцев

et al. 2019

Ross. vestn. perinatol. pediatr.

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Purpose: to analyze the structure of hereditary pathology and the results of genetic studies in children in a specialized clinic.Results.1045 children from 79 regions of the Russian Federation were examined and treated in the pediatric department of congenital and hereditary diseases in 2018. There were 25% of patients from Moscow and Moscow region and 75% from other territories. After examination all patients were divided into 2 large cohorts: patients with hereditary diseases diagnosed by clinical and laboratory data (737 children; 70%) and patients with undifferentiated pathological conditions with unclear genesis at the time of discharge from the hospital (308 children; 30%). In the cohort of hereditary diseases there were the most numerous (about 100 children in each) groups of patients with Ehlers–Danlos syndrome, imperfect osteogenesis and rare heterogeneous genetic syndromes. The groups of rickets- like diseases, chromosomal syndromes and Rett syndrome included 50-70 patients. Other groups were smaller. Half of the hospitalized patients required genetic analysis. The highest percentage of molecular genetically / cytogenetically confirmed diagnoses was found in the groups of chromosomal diseases, rare genetic syndromes of lysosomal and mitochondrial diseases, Rett syndrome, and aminoacidopathy. It is worth mentioning that a primary diagnosis was not established during a genetic study in 57 children (18%) children from the general cohort of patients with hereditary diseases, so the researchers used other methods of analysis or bioinformatic revision of the results.Conclusion: The authors found a large variety of genetic diseases in children requiring examination and treatment in a specialized hospital. 1/5 of the examined children require additional genetic testing or repeated bioinformatic interpretation of the data.

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Section: результаты и обсуждениеunclassified

The structure of hereditary diseases in children hospitalized in a specialized clinic

Николаева

Боченков

Данцев

et al. 2019

Ross. vestn. perinatol. pediatr.

Self Cite

View full text Add to dashboard Cite

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Application of modern approaches in the screening and early diagnosis programs for the orphan diseases

Gayduk¹,

Vlasov²,

Smirnova³

2022

Z. nevrol. psikhiatr. im. S.S. Korsakova

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Hereditary lung diseases and modern possibilities of genetic testing

Avdeev

Kondratyeva

Namazova-Baranova

et al. 2023

Pulʹmonologiâ (Mosk.)

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The European Respiratory Society website gives the following criterion for the disease to be classified as rare (orphan) - the disease occurs in 1 person per 2 000. One of the well-studied rare lung diseases is cystic fibrosis (CF), which is often considered a medical care model for patients with other orphan diseases. However, effective diagnostics and therapies have not yet been developed for many other rare diseases. Moreover, their true prevalence remains unknown because these diseases often go undiagnosed. One of the problems in diagnosing rare diseases is the lack of knowledge among physicians.The aim of this review is to provide a brief clinical and genetic description of rare hereditary lung diseases and to show modern genetic diagnostics to raise awareness among physicians. Data from 95 articles on hereditary lung diseases were used.Results. The results of the analysis of lung diseases associated with bronchiectasis, fibrosis, pneumothorax, and hereditary storage diseases are presented. Genetics and diagnostics, including the three-step molecular genetic testing for cystic fibrosis, are considered in detail. The diagnosis has been developed for both neonatal screening and clinical manifestations. The emergence of targeted therapy based on genetic diagnosis makes neonatal screening even more relevant and leads to an increase in life expectancy. A patient registry was established within 10 years. A detailed analysis of the diagnosis of primary ciliary dyskinesia (PCD) is given, taking into account the absence of a single “golden” standard for the diagnosis of PCD. The genetic basis of the most common hereditary diseases and modern possibilities of their diagnosis are discussed, including sequencing of genes responsible for the development of orphan diseases using standard Sanger sequencing methods and next-generation sequencing, and creating multigene panels.Conclusion. New molecular diagnostic methods will help to understand the nature of orphan lung diseases, study their epidemiology, and develop new diagnostic algorithms. The study of the genetic causes of rare diseases may serve as a basis for the development of targeted therapy.

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High-performance DNA sequencing to identify genetically determined diseases in pediatric practice

Cited by 4 publications

References 25 publications

The structure of hereditary diseases in children hospitalized in a specialized clinic

The structure of hereditary diseases in children hospitalized in a specialized clinic

Application of modern approaches in the screening and early diagnosis programs for the orphan diseases

Hereditary lung diseases and modern possibilities of genetic testing

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