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 - April 28, 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 - April 28, 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 - April 24, 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 - April 19, 2018 Category: Genetics & Stem Cells Source Type: research
Mitochondria and Alzheimer ’s Disease: the Role of Mitochondrial Genetic Variation
AbstractPurpose of ReviewAlzheimer ’s disease (AD) is the most common form of dementia, affects an increasing number of people worldwide, has a rapidly increasing incidence, and is fatal. In the past several years, significant progress has been made towards solving the genetic architecture of AD, but our understanding remains incom plete and has not led to treatments that either cure or slow disease. There is substantial evidence that mitochondria are involved in AD: mitochondrial functional declines in AD, mitochondrial encoded gene expression changes, mitochondria are morphologically different, and mitochondrial fusion...
Source: Current Genetic Medicine Reports - March 1, 2018 Category: Genetics & Stem Cells Source Type: research
Genetic Modifiers in Neurodegeneration
AbstractPurpose of ReviewTo review the evidence for genetic modifier effects in the neurodegenerative diseases: Huntington ’s disease (HD), frontotemporal lobar degeneration (FTLD), Alzheimer’s disease (AD), and Parkinson’s disease (PD).Recent FindingsIncreasingly, we understand human disease genetics less through the lens of single-locus/single-trait effects, and more through that of polygenic contributions to disease risk. In addition, specific examples of genetic modifier effects of the chromosome 7 geneTMEM106B on various target genes including those causal for Mendelian classes of FTLD —GRN andc9orf72—have e...
Source: Current Genetic Medicine Reports - February 5, 2018 Category: Genetics & Stem Cells Source Type: research
Copy Number Variation Disorders
AbstractPurpose of ReviewCopy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications, or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively large (> 1 Mb) and often recurrent CNVs. CNVs have also been implicated in the etiology of neuropsychiatric disorders including autism and schizophrenia as well as other common complex diseases. Thus, CNVs have a significant impact on human health ...
Source: Current Genetic Medicine Reports - October 14, 2017 Category: Genetics & Stem Cells Source Type: research
Genomics of Human Pulmonary Tuberculosis: from Genes to Pathways
In conclusion, we advocate for novel approaches to the study of host genetic analysis of TB that extend traditional association approaches. (Source: Current Genetic Medicine Reports)
Source: Current Genetic Medicine Reports - October 12, 2017 Category: Genetics & Stem Cells Source Type: research
Primary Open-Angle Glaucoma Genetics in African Americans
AbstractPurpose of ReviewIndividuals of African descent are at highest risk for developing primary open-angle glaucoma (POAG), a devastating disease and major contributor of blindness worldwide. Currently, there is a large dearth of knowledge in this area despite a critical need for better understanding the underlying genetic and environmental factors afflicting this population. Here, we highlight the current literature exploring the genetics of POAG in African Americans.Recent FindingsCurrent studies have yet to replicate European POAG index variants (i.e.,CDKN2B-AS1 andSIX1/SIX6) in African Americans or to definitely exc...
Source: Current Genetic Medicine Reports - October 11, 2017 Category: Genetics & Stem Cells Source Type: research
Overarching Concepts and Mechanisms Affecting Phenotypes of Ocular Genetic Conditions
This article describes recent advances in the understanding of cellular and molecular mechanisms that underlie genetic eye diseases.Recent FindingsDiscoveries at the molecular level, including autophagy and nonsense suppression, improve understanding of overall eye development and open avenues for therapies designed to modify molecular expression, resulting in a different phenotype. Continued research of ciliopathies demonstrates the wide and variable expression of these disorders. This translates into the clinical setting when seemingly nonsyndromic eye disorders may be multisystemic due to ciliary dysfunction, requiring ...
Source: Current Genetic Medicine Reports - October 6, 2017 Category: Genetics & Stem Cells Source Type: research
From Prognostication to Personalized Medicine: Classification of Tumors of the Central Nervous System (CNS) Using Chromosomal Microarrays
AbstractPurpose of ReviewGenomic profiling has led to a transformation in our understanding, and clinical management, of many tumors of the central nervous system (CNS). This has led to a paradigm shift in diagnostic evaluation of these tumors and necessitated an integrative approach that requires evaluation of both histological and molecular characteristics. Herein, we review the utility of chromosomal microarrays (CMAs) as a tool for improving diagnosis and prognosis in CNS tumors.Recent FindingsClinical laboratories around North America perform CMA analysis as part of routine diagnostic evaluation. By example this inclu...
Source: Current Genetic Medicine Reports - August 12, 2017 Category: Genetics & Stem Cells Source Type: research
New in Newborn Screening
AbstractPurpose of ReviewSince the nationwide implementation of the expanded newborn screen in 2006, five conditions have been added to the core screening panel. Three of these are rare classical inborn errors of metabolism, a traditional focus of newborn screening, namely Pompe disease, Hurler syndrome, and X-linked Adrenoleukodystrophy (XALD). This review will describe first experiences with screening for these conditions and will also critically appraise newborn screening for Krabbe disease which was implemented in some states.Recent FindingsThere is 1 –3 years of experience with state-wide newborn screening for Pomp...
Source: Current Genetic Medicine Reports - August 1, 2017 Category: Genetics & Stem Cells Source Type: research
Advances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders
AbstractPurpose of ReviewThis review focuses on advances made in the past 3 years with regards to understanding the mitochondrial fatty acid oxidation (FAO) pathway, the pathophysiological ramifications of genetic lesions in FAO enzymes, and emerging therapies for FAO disorders.Recent FindingsFAO has now been recognized to play a key energetic role in pulmonary surfactant synthesis, T-cell differentiation and memory, and the response of the proximal tubule to kidney injury. Patients with FAO disorders may face defects in these cellular systems as they age. Aspirin, statins, and nutritional supplements modulate the rate o...
Source: Current Genetic Medicine Reports - July 25, 2017 Category: Genetics & Stem Cells Source Type: research
Human Genomics of Mycobacterium tuberculosis Infection and Disease
AbstractPurpose of ReviewThe study of the genetic basis of tuberculosis pathogenesis has benefited from powerful technological innovations, a more structured definition of latent and clinical manifestations of the disease, and the application of functional genomic approaches. This short review aims to summarize recent advances and to provide a link with results of previous human genetic studies of tuberculosis susceptibility.Recent FindingsTranscriptomics has been shown to be a useful tool to predict progression from latency to clinical disease while functional genomics has traced the molecular events that link pathogen-tr...
Source: Current Genetic Medicine Reports - July 25, 2017 Category: Genetics & Stem Cells Source Type: research
Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition
AbstractPurpose of ReviewThis manuscript reviews developments in the diagnosis and treatment of cystic fibrosis (CF) and addresses the impact on families.Recent FindingsOnce the classic example of a single-gene, autosomal recessive, life-shortening condition, CF and related disorders are now known to form a phenotypic spectrum with genetic etiology rooted in more than 2000 known variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This spectrum encompasses asymptomatic newborns and adult-diagnosed individuals in addition to classically diagnosed infants and children. Advances in variant-specific...
Source: Current Genetic Medicine Reports - May 20, 2017 Category: Genetics & Stem Cells Source Type: research
