Application of Next Generation Sequencing for personalized medicine for sudden cardiac death

Morini, Elena; Sangiuolo, Federica; Caporossi, Daniela; Novelli, Giuseppe; Amati, Francesca

doi:10.3389/fgene.2015.00055

Cited by 20 publications

(13 citation statements)

References 27 publications

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“…The technology of NGS is now emerging as a powerful approach to comprehensively explore genetic mutations in a wide range of human pathologies [ 36 , 55 ]. In this study, we used targeted resequencing to identify novel genetic variations associated with three inherited cardiomyopathies, namely HCM, DCM, and ARVC, which are common causes of mortality before the fifth decade of life.…”

Section: Discussionmentioning

confidence: 99%

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

et al. 2017

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Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC), with higher morbidity and mortality. These diseases are genetically diverse and associated with rare mutations in a large number of genes, many of which overlap among the phenotypes. To better investigate the genetic overlap between these three phenotypes and to identify new genotype–phenotype correlations, we designed a custom gene panel consisting of 115 genes known to be associated with cardiomyopathic phenotypes and channelopathies. A cohort of 38 unrelated patients, 16 affected by DCM, 14 by HCM and 8 by ARVC, was recruited for the study on the basis of more severe phenotypes and family history of cardiomyopathy and/or sudden death. We detected a total of 142 rare variants in 40 genes, and all patients were found to be carriers of at least one rare variant. Twenty-eight of the 142 rare variants were also predicted as potentially pathogenic variants and found in 26 patients. In 23 out of 38 patients, we found at least one novel potential gene–phenotype association. In particular, we detected three variants in OBSCN gene in ARVC patients, four variants in ANK2 gene and two variants in DLG1, TRPM4, and AKAP9 genes in DCM patients, two variants in PSEN2 gene and four variants in AKAP9 gene in HCM patients. Overall, our results confirmed that cardiomyopathic patients could carry multiple rare gene variants; in addition, our investigation of the genetic overlap among cardiomyopathies revealed new gene–phenotype associations. Furthermore, as our study confirms, data obtained using targeted next-generation sequencing could provide a remarkable contribution to the molecular diagnosis of cardiomyopathies, early identification of patients at risk for arrhythmia development, and better clinical management of cardiomyopathic patients.

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Section: Discussionmentioning

confidence: 99%

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

et al. 2017

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“…We believe that such a base characterization can then be used to tailor individual treatment approaches, as the task battery will specifically identify areas of weakness that can then be targeted for more directed improvement. Such a personalized or precision approach to ASD treatment would mimic contemporary advances that are being made in cardiovascular health and cancer therapy (Morini et al, 2015; Santos et al, 2015). …”

Section: Plasticity and Remediation Therapies In Asdmentioning

confidence: 99%

Behavioral, perceptual, and neural alterations in sensory and multisensory function in autism spectrum disorder

Baum

Stevenson

Wallace

2015

Progress in Neurobiology

299

267

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Although sensory processing challenges have been noted since the first clinical descriptions of autism, it has taken until the release of the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) in 2013 for sensory problems to be included as part of the core symptoms of autism spectrum disorder (ASD) in the diagnostic profile. Because sensory information forms the building blocks for higher-order social and cognitive functions, we argue that sensory processing is not only an additional piece of the puzzle, but rather a critical cornerstone for characterizing and understanding ASD. In this review we discuss what is currently known about sensory processing in ASD, how sensory function fits within contemporary models of ASD, and what is understood about the differences in the underlying neural processing of sensory and social communication observed between individuals with and without ASD. In addition to highlighting the sensory features associated with ASD, we also emphasize the importance of multisensory processing in building perceptual and cognitive representations, and how deficits in multisensory integration may also be a core characteristic of ASD.

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“…Jedną z trudności jest identyfikacja osoby narażonej na ryzyko, ponieważ nagły zgon jest zazwyczaj pierwszym objawem choroby. W tym kontekście istotnego znaczenia nabiera wykrywanie za pomocą testów genetycznychjeszcze przed wystąpieniem objawów -osób będących nosicielami wariantu genetycznego predysponującego do wystąpienia SCD [37]. Testy tego typu mogłyby też identyfikować potencjalny mechanizm sercowy oraz ustalać przyczynę i rodzaj zgonu [38].…”

Section: Archiwum Medycyny Sądowej I Kryminologii Archives Of Forensiunclassified

“…One of the difficulties is to identify the person at risk where the sudden death is most of the times the first manifestation. Identifying pre-symptomatic persons carrying genetic variant that predisposes them to SCD by genetic tests are very important [37]. They could also display a potential cardiac mechanism and declare the cause of death and mode of death [38].…”

Section: Cause Of Death Molecular Markersmentioning

confidence: 99%

Next generation sequencing (NGS): a golden tool in forensic toolkit

Aly¹,

Sabri²

2015

amsik

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StreszczenieAnaliza DNA stanowi fundament współczesnych nauk kryminalistycznych. Technologie sekwencjonowania DNA są skutecznymi narzędziami, które przyczyniają się do rozwoju nauk molekularnych. Dotychczas główną techniką sekwencjonowania była metoda Sangera. Dziś coraz większego znaczenia w naukach kryminalistycznych nabiera tzw. sekwencjonowanie nowej generacji (NGS). Metoda ta umożliwia rozwój i rozszerzanie zastosowań metod molekularnych w naukach kryminalistycznych dzięki eliminacji pułapek, które wiążą się z konwencjonalnymi metodami sekwencjonowania. Głównymi zaletami NGS w porównaniu z metodą konwencjonalną jest jednoczesne wykorzystywanie dużej liczby markerów genetycznych o wysokiej rozdzielczości danych genetycznych. Przyczyni się to niewątpliwie do rozwiązania kilku istotnych problemów, takich jak analiza mieszanin i badanie znikomych ilości materiału dla zdegradowanych próbek. Na bazie nowych technologii możliwa jest analiza wielu markerów w celu określenia istotnych cech biologicznych, np. wieku, pochodzenia geograficznego, typu tkanek i zewnętrznych cech fizycznych oraz identyfikacji bliźniąt monozygotycznych. Możliwe jest również uzyskanie danych dotyczących mikroorganizmów, owadów, roślin i gleby, które mają bardzo istotne znaczenie dla celów medyczno-sądowych. Mimo wielu badań z wykorzystaniem NGS dla celów sądowych rutynowe stosowanie tej technologii w sprawach kryminalistycznych wymaga jeszcze spełnienia określonych wymogów. Z tego względu niezbędne są dalsze badania analizujące efektywność zastosowania tych technik. W tym kontekście w niniejszej pracy omówiono najważniejsze zastosowania NGS w naukach kryminalistycznych w erze masowego sekwencjonowania równoległego.Słowa kluczowe: sekwencjonowanie nowej generacji, nauki kryminalistyczne, sekwencjonowanie metodą Sangera. AbstractThe DNA analysis is a cornerstone in contemporary forensic sciences. DNA sequencing technologies are powerful tools that enrich molecular sciences in the past based on Sanger sequencing and continue to glowing these sciences based on Next generation sequencing (NGS). Next generation sequencing has excellent potential to flourish and increase the molecular applications in forensic sciences by jumping over the pitfalls of the conventional method of sequencing. The main advantages of NGS compared to conventional method that it utilizes simultaneously a large number of genetic markers with high-resolution of genetic data. These advantages will help in solving several challenges such as mixture analysis and dealing with minute degraded samples. Based on these new technologies, many markers could be examined to get important biological data such as age, geographical origins, tissue type determination, external visible traits and monozygotic twins identification. It also could get data related to microbes, insects, plants and soil which are of great medico-legal importance. Despite the dozens of forensic research involving NGS, there are requirements before using this technology routinely in forensic cases. Thus, there is a ...

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Application of Next Generation Sequencing for personalized medicine for sudden cardiac death

Cited by 20 publications

References 27 publications

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

Behavioral, perceptual, and neural alterations in sensory and multisensory function in autism spectrum disorder

Next generation sequencing (NGS): a golden tool in forensic toolkit

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