Subject(s)
Coronavirus Infections/epidemiology , Genetic Counseling/organization & administration , Genetics, Medical/organization & administration , Pandemics , Pneumonia, Viral/epidemiology , Software , Telemedicine/organization & administration , Betacoronavirus/pathogenicity , COVID-19/virology , Coronavirus Infections/virology , Genetics, Medical/instrumentation , Genetics, Medical/methods , Health Services Accessibility/ethics , Health Services Accessibility/organization & administration , Healthcare Disparities/ethics , Humans , Pneumonia, Viral/virology , Quality Assurance, Health Care , SARS-CoV-2 , Telemedicine/instrumentation , Telemedicine/methodsABSTRACT
Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review summarizes the current knowledge of cancer predisposition syndromes in pediatric oncology and provides essential information on clinical situations in which a childhood cancer predisposition syndrome should be suspected.
Subject(s)
Genetic Predisposition to Disease , Hematologic Neoplasms/diagnosis , Mutation , Neoplasm Proteins/genetics , Neoplasms/diagnosis , Adolescent , Child , Focus Groups/methods , Gene Expression , Genetic Counseling/ethics , Genetic Testing/methods , Genetics, Medical/history , Genetics, Medical/instrumentation , Genetics, Medical/methods , Hematologic Neoplasms/genetics , Hematologic Neoplasms/pathology , History, 21st Century , Humans , Neoplasms/genetics , Neoplasms/pathology , Societies, Medical/history , SyndromeSubject(s)
Precision Medicine/methods , Sequence Analysis, DNA/methods , Exome/genetics , Genetic Testing/economics , Genetic Testing/instrumentation , Genetic Testing/methods , Genetics, Medical/economics , Genetics, Medical/instrumentation , Genetics, Medical/methods , Genome, Human/genetics , Genomics/economics , Genomics/instrumentation , Genomics/methods , Humans , Precision Medicine/economics , Precision Medicine/instrumentation , Precision Medicine/trends , Sequence Analysis, DNA/economics , Sequence Analysis, DNA/instrumentation , Sequence Analysis, DNA/trends , SoftwareABSTRACT
Imaging genetics is an integrated research method that uses neuroimaging and genetics to assess the impact of genetic variation on brain function and structure. Imaging genetics is both a tool for the discovery of risk genes for psychiatric disorders and a strategy for characterizing the neural systems affected by risk gene variants to elucidate quantitative and mechanistic aspects of brain function implicated in psychiatric disease. Early studies of imaging genetics included association analyses between brain morphology and single nucleotide polymorphisms whose function is well known, such as catechol-Omethyltransferase (COMT) and brain-derived neurotrophic factor (BDNF). GWAS of psychiatric disorders have identified genes with unknown functions, such as ZNF804A, and imaging genetics has been used to investigate clues of the biological function of these genes. The difficulty in replicating the findings of studies with small sample sizes has motivated the creation of largescale collaborative consortiums, such as ENIGMA, CHARGE and IMAGEN, to collect thousands of images. In a genome-wide association study, the ENIGMA consortium successfully identified common variants in the genome associated with hippocampal volume at 12q24, and the CHARGE consortium replicated this finding. The new era of imaging genetics has just begun, and the next challenge we face is the discovery of small effect size signals from large data sets obtained from genetics and neuroimaging. New methods and technologies for data reduction with appropriate statistical thresholds, such as polygenic analysis and parallel independent component analysis (ICA), are warranted. Future advances in imaging genetics will aid in the discovery of genes and provide mechanistic insight into psychiatric disorders.
Subject(s)
Bipolar Disorder/genetics , Genetics, Medical/methods , Hippocampus/metabolism , Neuroimaging/methods , Schizophrenia/genetics , Bipolar Disorder/diagnosis , Bipolar Disorder/pathology , Bipolar Disorder/physiopathology , Brain-Derived Neurotrophic Factor/genetics , Brain-Derived Neurotrophic Factor/metabolism , Catechol O-Methyltransferase/genetics , Catechol O-Methyltransferase/metabolism , Chromosomes, Human, Pair 12/chemistry , Chromosomes, Human, Pair 12/ultrastructure , Cooperative Behavior , Gene Expression , Genetics, Medical/instrumentation , Genome-Wide Association Study , Genotype , Hippocampus/pathology , Hippocampus/physiopathology , Humans , Kruppel-Like Transcription Factors/genetics , Kruppel-Like Transcription Factors/metabolism , Neuroimaging/instrumentation , Phenotype , Polymorphism, Single Nucleotide , Schizophrenia/diagnosis , Schizophrenia/pathology , Schizophrenia/physiopathologyABSTRACT
No disponible
Subject(s)
Female , Humans , Male , Diagnosis , Genetics, Medical/instrumentation , Genetics, Medical/methods , Miller Fisher Syndrome/metabolism , Miller Fisher Syndrome/pathology , In Vitro Techniques/ethics , In Vitro Techniques/instrumentation , Genetics, Medical/classification , Genetics, Medical , Miller Fisher Syndrome/complications , Miller Fisher Syndrome/diagnosis , In Vitro Techniques/economics , In Vitro Techniques/methodsABSTRACT
Next-generation sequencing (NGS) has allowed a tremendous progress in the characterization of the molecular bases of genetic diseases and the last annual American Society of Human Genetics meeting has highlighted the implementation of whole exome sequencing in medical genetics. Several investigators suggest that it should be medically relevant for each individual to have the exome sequenced. These perspectives do not take into account the complexity of genetic variation interpretation and genetic determinism of human diseases: an important limiting step of targeted analyses of gene(s) involved in Mendelian diseases is already the interpretation of variants of unknown significance; most of the 20,000 single nucleotide variations present in each exome, even those having a very low allelic frequency, are not deleterious; the genetic determinism of the majority of human diseases involves either a combination of numerous genetic variations, each conferring a slightly increased risk, or rare genetic variations with a strong effect, but the demonstration of their involvement in diseases is particularly challenging. The challenge for the next generation of medical geneticists will be to integrate the technological power of NGS technologies, the complexity of genome interpretation, the importance of phenotyping before genotyping, and the guidelines of medical genetics raised in the pre-NGS era.
Subject(s)
Exome , Genetic Association Studies , Genetics, Medical/methods , Genome, Human , Polymorphism, Single Nucleotide , Alleles , Databases, Genetic , Gene Frequency , Genetics, Medical/instrumentation , Genotype , High-Throughput Nucleotide Sequencing , Humans , Phenotype , Sequence Analysis, DNASubject(s)
Genetic Testing/trends , Genetics, Medical/economics , Genetics, Medical/methods , Genomics/economics , Sequence Analysis, DNA/economics , Fertilization in Vitro/methods , Genetic Testing/economics , Genetic Testing/instrumentation , Genetics, Medical/instrumentation , Genetics, Medical/trends , Genomics/instrumentation , Genomics/trends , Humans , Laboratories , Metagenome , Sequence Analysis, DNA/instrumentationABSTRACT
A menudo se atribuye a Conrad Waddington (1905-1975) la acuñación del término epigenética en el año 1942 como la rama de la biología que estudia las interacciones causales entre los genes y sus productos que dan lugar al fenotipo. El campo de la epigenética intenta determinar cómo afectan a la función genómica, los mecanismos que regulan la manera en que los genes son procesados. Los factores epigenéticos incluyen tanto patrones espaciales, como la organización del ADN alrededor de las proteínas histónicas (cromatina), como la marcación bioquímica...
Subject(s)
Base Sequence , Genomics , Genes/genetics , Genetics, Medical/instrumentation , Genetics, Medical/methods , Genetics, Medical/trendsABSTRACT
A menudo se atribuye a Conrad Waddington (1905-1975) la acuñación del término epigenética en el año 1942 como la rama de la biología que estudia las interacciones causales entre los genes y sus productos que dan lugar al fenotipo. El campo de la epigenética intenta determinar cómo afectan a la función genómica, los mecanismos que regulan la manera en que los genes son procesados. Los factores epigenéticos incluyen tanto patrones espaciales, como la organización del ADN alrededor de las proteínas histónicas (cromatina), como la marcación bioquímica...(AU)
Subject(s)
Genes/genetics , Genetics, Medical/instrumentation , Genetics, Medical/methods , Genetics, Medical/trends , Base Sequence , GenomicsSubject(s)
Oligonucleotide Array Sequence Analysis/economics , Oligonucleotide Array Sequence Analysis/instrumentation , Sequence Analysis, DNA/economics , Sequence Analysis, DNA/instrumentation , Genetics, Medical/economics , Genetics, Medical/instrumentation , Genetics, Medical/trends , Genome, Human/genetics , Genotype , Humans , Oligonucleotide Array Sequence Analysis/trends , Sequence Analysis, DNA/trendsABSTRACT
The purpose of this article is to describe proteomics, to discuss the importance of proteomics, to review different methods for protein measurement, and to illustrate how knowledge of proteomics might improve patient care. Among common laboratory determinations are those involving enzymatic (protein) function. Although the presence or activity of proteins may be seen clinically as incidental, proteins represent the engines through which critical life processes ensue. A selected review of the literature is presented to define and explain proteomics and to review the various techniques to measure proteins. A case-study approach is used to illustrate how proteomics can be utilized for detecting and monitoring disease. The human genome has been completely sequenced and proteomics has emerged as a way to unravel the biochemical and physiological mechanisms of diseases at the functional level. This review includes the recent discoveries regarding proteomics and its importance in the detection and treatment of disease.
Subject(s)
Genetics, Medical/methods , Genome, Human/genetics , Proteomics/methods , Chromosome Mapping , Electrophoresis, Gel, Two-Dimensional , Gene Expression Regulation/genetics , Genetic Markers/genetics , Genetic Research , Genetics, Medical/instrumentation , Human Genome Project , Humans , Mass Spectrometry , Pneumonia, Bacterial/complications , Pneumonia, Bacterial/diagnosis , Pneumonia, Bacterial/drug therapy , Protein Array Analysis , Protein Interaction Mapping , Proteomics/instrumentation , Respiratory Distress Syndrome/microbiology , Sequence Analysis, ProteinSubject(s)
Male , Female , Humans , Genetics, Medical/instrumentation , Genetics, Medical/methods , Genetics, Medical/standardsSubject(s)
Male , Female , Humans , Genetics, Medical/instrumentation , Genetics, Medical/methods , Genetics, Medical/trendsSubject(s)
Humans , Male , Female , Genetics, Medical/instrumentation , Genetics, Medical/methods , Genetics, Medical/standardsSubject(s)
Humans , Male , Female , Genetics, Medical/instrumentation , Genetics, Medical/methods , Genetics, Medical/trendsSubject(s)
Sequence Analysis, DNA/instrumentation , Sequence Analysis, DNA/methods , Animals , Biotechnology/instrumentation , Biotechnology/trends , Genetics, Medical/instrumentation , Genetics, Medical/trends , Genome, Human , Genomics/instrumentation , Genomics/trends , Hominidae/genetics , Humans , Male , Sequence Analysis, DNA/trends , Time FactorsSubject(s)
Equipment and Supplies , Genomics/instrumentation , Equipment and Supplies/standards , Gene Expression Profiling/instrumentation , Gene Expression Profiling/standards , Genetics, Medical/instrumentation , Genetics, Medical/trends , Genomics/standards , Genomics/trends , Oligonucleotide Array Sequence Analysis/methods , Oligonucleotide Array Sequence Analysis/standards , United States , United States Food and Drug AdministrationABSTRACT
No disponible
No disponible