Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities

Sayson, Bryan; Popurs, Marioara Angela Moisa; Lafek, Mirafe; Berkow, Ruth; Stöckler‐Ipsiroglu, Sylvia

doi:10.1016/j.ymgme.2015.03.001

Cited by 14 publications

(11 citation statements)

References 30 publications

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“…In Canada, a series of rare disease gene discovery projects, including FORGE (Finding of Rare Disease Genes) ( Beaulieu et al 2014 ), Care4Rare ( Sawyer et al 2016 ), IGNITE (Identifying Genes and Novel Therapeutics to Enhance Treatment), Omics2TreatID ( Tarailo-Graovac et al 2016 ), and TIDE BC ( Sayson et al 2015 ; Tarailo-Graovac et al 2016 ), led to the identification of >300 disease genes over the past 5 years. A complementary national project was established to expedite collaboration between basic scientists and clinicians for model organism-based functional studies of rare disease gene variants, and for the development of new therapeutic strategies using model systems.…”

Section: Model Organisms and Medical Diagnosismentioning

confidence: 99%

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

et al. 2017

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Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene function, and an inability to predict the impact of genetic variation on the encoded protein function. Diagnostic challenges posed by undiagnosed diseases have solutions in model organism research, which provides a wealth of detailed biological information. Model organism geneticists are by necessity experts in particular genes, gene families, specific organs, and biological functions. Here, we review the current state of research into undiagnosed diseases, highlighting large efforts in North America and internationally, including the Undiagnosed Diseases Network (UDN) (Supplemental Material, File S1) and UDN International (UDNI), the Centers for Mendelian Genomics (CMG), and the Canadian Rare Diseases Models and Mechanisms Network (RDMM). We discuss how merging human genetics with model organism research guides experimental studies to solve these medical mysteries, gain new insights into disease pathogenesis, and uncover new therapeutic strategies.

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Section: Model Organisms and Medical Diagnosismentioning

confidence: 99%

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

et al. 2017

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“…They suggested a two-tiered metabolic screen to detect these treatable conditions at a cost of approximately £350. Retrospective analysis of this protocol demonstrated a reduction in the time to diagnosis, which is potentially very significant to the child and their family 4. The first-line investigations proposed by Mithyantha et al 2 are similar to the first-tier investigations suggested by van Karnebeek 3.…”

mentioning

confidence: 54%

Investigation of developmental delay

2018

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“…Os erros inatos do metabolismo (EIM) também se situam entre as principais causas genéticas de DI 2,[34][35][36] . Esse grupo de doenças compreende mais de 700 distúrbios metabólicos hereditários, transmitidos em sua maioria de forma autossômica recessiva.…”

Section: B) Causas Genéticasunclassified

“…No sangue deve ser feita cromatografi a de aminoácidos e perfi l de acilcarnitinas, além de dosagem de amônia e lactato, homocisteína, cobre e ceruloplasmina. Exames alterados indicam a necessidade de investigação complementar específi ca adicional [34][35][36] .…”

Section: (E) Análise Cromossômica Por Microarrayunclassified

Investigação etiológica nas situações de deficiência intelectual ou atraso global do desenvolvimento

Melo

Pilotto

Rodrigues

et al. 2018

SDH

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Objetivos: Examinar estudos sobre diagnóstico etiológico nas situações de deficiência intelectual ou atraso global do desenvolvimento, racionalizando o processo de investigação causal em um fluxograma aplicável na prática clínica. Método: Revisão não sistemática da literatura nas bases de dados PubMed e SciELO, sem restrições de tempo ou idioma, com seleção de artigos relevantes, análise crítica e síntese dos resultados. Resultados: Causas ambientais de deficiência devem ser consideradas na história clínica, identificando-se fatores de risco pré, peri e pós-natais. A história familiar e os exames físico, dismorfológico e neurológico podem sugerir a etiologia e orientar a investigação. Para investigar causas genéticas, a análise cromossômica por microarray é indicada como teste de primeira linha, associada à pesquisa de erros inatos do metabolismo e à testagem para síndrome do X-frágil. Exames de neuroimagem são importantes em pacientes selecionados, assim como a investigação de outros genes localizados no cromossomo X. Há uma discussão emergente sobre o papel do sequenciamento completo do exoma nessa investigação. Conclusões: A frequência de definição etiológica tem aumentado com a incorporação de novas tecnologias genéticas na investigação da deficiência intelectual. Afora a investigação etiológica, a abordagem clínica deve considerar diferentes demandas e permitir a construção de um plano terapêutico individualizado.

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Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities

Cited by 14 publications

References 30 publications

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Investigation of developmental delay

Investigação etiológica nas situações de deficiência intelectual ou atraso global do desenvolvimento

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