Getting to the Heart of the Matter: Lysosomal Storage Diseases That Manifest a Cardiac Phenotype
AbstractPurpose of ReviewThe lysosomal storage diseases (LDs) are a group of over 70 inherited metabolic conditions caused by deficiencies in one or more lysosomal enzymes affecting degradation pathways, transportation mechanisms, or other key mechanisms that hamper lysosomal functioning. LDs are individually rare but collectively common with a combined incidence of 1 in 4000 to 13,000 individuals. FDA-approved therapies exist for several of the conditions. Timely treatment of patients with LDs has been hampered by significant diagnostic delays. For many LDs, cardiac manifestations can provide a diagnostic clue to identify...
Source: Current Genetic Medicine Reports - June 1, 2018 Category: Genetics & Stem Cells Source Type: research
The Interplay Between the Microbiome and Cardiovascular Risk
AbstractPurpose of ReviewThe microbiome, defined as the community of microorganisms that live on or in the human body, is involved in a variety of physiological processes. This review summarizes evidence that human microbial communities influence risk of cardiovascular disease (CVD) and place the microbiome in context of other –omic data layers.Recent FindingsThe most robust evidence implicating the microbiome in CVD pathogenesis involves trimethylamine-N-oxide, a moiety synthesized by gut bacteria that has been compellingly linked to the increased risk of adverse CVD events. In addition, many cross-sectional association...
Source: Current Genetic Medicine Reports - June 1, 2018 Category: Genetics & Stem Cells Source Type: research
Mitochondrial Genomics: A Complex Field Now Coming of Age
AbstractPurpose of ReviewThe groundwork for mitochondrial medicine was laid 30 years ago with identification of the first disease-causing mitochondrial DNA (mtDNA) mutations in 1988. Three decades later, mutations in nearly 300 genes involving every possible mode of inheritance within both nuclear and mitochondrial genomes are now recognized to collectively comprise the larg est class of inherited metabolic disease, affecting at least 1 in 4300 individuals across all ages. Significant progress has been made in recent years to improve understanding of mitochondrial biology and disease pathophysiology.Recent FindingsMarked...
Source: Current Genetic Medicine Reports - June 1, 2018 Category: Genetics & Stem Cells Source Type: research
Mitochondrial Disease: Advances in Clinical Diagnosis, Management, Therapeutic Development, and Preventative Strategies
AbstractPurpose of ReviewPrimary mitochondrial disease encompasses an impressive range of inherited energy deficiency disorders having highly variable molecular etiologies as well as clinical onset, severity, progression, and response to therapies of diverse multi-system manifestations. Significant progress has been made in primary mitochondrial disease diagnostic approaches, clinical management, therapeutic options, and preventative strategies that are tailored to major mitochondrial disease phenotypes and subclasses.Recent FindingsThe extensive phenotypic pleiotropy of individual mitochondrial diseases from an organ-base...
Source: Current Genetic Medicine Reports - June 1, 2018 Category: Genetics & Stem Cells Source Type: research
Nutritional Genomics of Cardiovascular Disease
AbstractPurpose of ReviewCardiovascular disease (CVD) is the leading cause of death in the USA and globally. There is significant evidence implicating genetic and dietary factors in the development and progression of CVD and its risk factors. Nutritional genomics is a comparatively new field of science that focuses on the relationship of individual genetic variation with response to nutrition. The purpose of this review is to summarize recent progress, in the field of nutritional genomics as it relates to cardiovascular disease.Recent FindingsEvidence from recent studies has shown significant effects of gene-diet interacti...
Source: Current Genetic Medicine Reports - June 1, 2018 Category: Genetics & Stem Cells Source Type: research
Patient Care Situations Benefiting from Pharmacogenomic Testing
This report reviews a variety of patient care situations in which evidence is emerging to show patient benefit from pharmacogenomic (PGx) testing.Recent FindingsPreemptive PGx testing minimizes delays in treatment, reducing costs and time to therapeutic effect; however, preemptive testing is currently not feasible in all healthcare settings. Therefore, specific patient care situations that could benefit from PGx testing to be prioritized include medications requiring PGx testing, adverse drug reactions, therapeutic failures, polypharmacy, special populations, and specialty care settings such as cardiology, oncology, and ps...
Source: Current Genetic Medicine Reports - June 1, 2018 Category: Genetics & Stem Cells Source Type: research
Genetics of Epilepsy in the Era of Precision Medicine: Implications for Testing, Treatment, and Genetic Counseling
AbstractPurpose of ReviewEpilepsy is among the most common neurological diseases, affecting 65 million people worldwide. Recent revisions to the classification of epilepsies by the International League Against Epilepsy (ILAE) reflect a growing awareness of genetic contributions to epilepsy. Research in epilepsy genetics has begun to look beyond gene discovery to the horizon of genotype-driven precision medicine.Recent FindingsDuring the past 5 years, the advent of next-generation sequencing has led to exponential growth in the discovery of epilepsy-related genes. The yield of clinically available genetic tests for patien...
Source: Current Genetic Medicine Reports - June 1, 2018 Category: Genetics & Stem Cells Source Type: research
How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review
AbstractPurpose of ReviewCascade testing, or screening, is the process of stepwise, systematic genetic testing of at-risk relatives for a genetic variant originally identified in a proband. Cascade testing effectively identifies at-risk relatives who would benefit from early screening and/or medical intervention, and can potentially lead to early diagnoses and disease prevention. However, recent studies highlight the need for additional resources to enhance family communication and improve the cascade testing process. In this mini-review of cascade testing, we discuss various factors that influence the effectiveness of com...
Source: Current Genetic Medicine Reports - June 1, 2018 Category: Genetics & Stem Cells Source Type: research
Hereditary Lung Cancer Risk: Recent Discoveries and Implications for Genetic Counseling and Testing
AbstractPurpose of ReviewMost lung cancer risk is attributed to environmental factors such as cigarette smoke. Family history also impacts lung cancer risk and as smoking rates decrease, the importance of understanding hereditary risk factors will increase. The goal of this paper is to review recent literature on germline variants that affect lung cancer risk, particularly in non-smokers.Recent FindingsGermlineEGFR T790M mutations have been identified in several families with a high density of lung cancer. Individuals withEGFR T790M appear to be predisposed to multifocal lung cancer and ground glass opacities. Other varian...
Source: Current Genetic Medicine Reports - June 1, 2018 Category: Genetics & Stem Cells Source Type: research
Using High-Throughput Animal or Cell-Based Models to Functionally Characterize GWAS Signals
We describe how these strategies have been successfully used to functionally characterize the genes in GWAS-defined risk loci. In the future, these strategies should help to translate GWAS data into knowledge and treatments. (Source: Current Genetic Medicine Reports)
Source: Current Genetic Medicine Reports - May 29, 2018 Category: Genetics & Stem Cells Source Type: research
Hereditary Lung Cancer Risk: Recent Discoveries and Implications for Genetic Counseling and Testing
AbstractPurpose of ReviewMost lung cancer risk is attributed to environmental factors such as cigarette smoke. Family history also impacts lung cancer risk and as smoking rates decrease, the importance of understanding hereditary risk factors will increase. The goal of this paper is to review recent literature on germline variants that affect lung cancer risk, particularly in non-smokers.Recent FindingsGermlineEGFR T790M mutations have been identified in several families with a high density of lung cancer. Individuals withEGFR T790M appear to be predisposed to multifocal lung cancer and ground glass opacities. Other varian...
Source: Current Genetic Medicine Reports - May 11, 2018 Category: Genetics & Stem Cells Source Type: research
Getting to the Heart of the Matter: Lysosomal Storage Diseases That Manifest a Cardiac Phenotype
AbstractPurpose of ReviewThe lysosomal storage diseases (LDs) are a group of over 70 inherited metabolic conditions caused by deficiencies in one or more lysosomal enzymes affecting degradation pathways, transportation mechanisms, or other key mechanisms that hamper lysosomal functioning. LDs are individually rare but collectively common with a combined incidence of 1 in 4000 to 13,000 individuals. FDA-approved therapies exist for several of the conditions. Timely treatment of patients with LDs has been hampered by significant diagnostic delays. For many LDs, cardiac manifestations can provide a diagnostic clue to identify...
Source: Current Genetic Medicine Reports - May 3, 2018 Category: Genetics & Stem Cells Source Type: research
Mitochondrial Genomics: A Complex Field Now Coming of Age
AbstractPurpose of ReviewThe groundwork for mitochondrial medicine was laid 30 years ago with identification of the first disease-causing mitochondrial DNA (mtDNA) mutations in 1988. Three decades later, mutations in nearly 300 genes involving every possible mode of inheritance within both nuclear and mitochondrial genomes are now recognized to collectively comprise the larg est class of inherited metabolic disease, affecting at least 1 in 4300 individuals across all ages. Significant progress has been made in recent years to improve understanding of mitochondrial biology and disease pathophysiology.Recent FindingsMarked...
Source: Current Genetic Medicine Reports - May 2, 2018 Category: Genetics & Stem Cells Source Type: research
Mitochondrial Disease: Advances in Clinical Diagnosis, Management, Therapeutic Development, and Preventative Strategies
AbstractPurpose of ReviewPrimary mitochondrial disease encompasses an impressive range of inherited energy deficiency disorders having highly variable molecular etiologies as well as clinical onset, severity, progression, and response to therapies of diverse multi-system manifestations. Significant progress has been made in primary mitochondrial disease diagnostic approaches, clinical management, therapeutic options, and preventative strategies that are tailored to major mitochondrial disease phenotypes and subclasses.Recent FindingsThe extensive phenotypic pleiotropy of individual mitochondrial diseases from an organ-base...
Source: Current Genetic Medicine Reports - May 2, 2018 Category: Genetics & Stem Cells Source Type: research
Nutritional Genomics of Cardiovascular Disease
AbstractPurpose of ReviewCardiovascular disease (CVD) is the leading cause of death in the USA and globally. There is significant evidence implicating genetic and dietary factors in the development and progression of CVD and its risk factors. Nutritional genomics is a comparatively new field of science that focuses on the relationship of individual genetic variation with response to nutrition. The purpose of this review is to summarize recent progress, in the field of nutritional genomics as it relates to cardiovascular disease.Recent FindingsEvidence from recent studies has shown significant effects of gene-diet interacti...
Source: Current Genetic Medicine Reports - April 30, 2018 Category: Genetics & Stem Cells Source Type: research
