Advances in Hereditary Colorectal Cancer: Opportunities and Challenges for Clinical Translation
AbstractPurpose of ReviewOver the last decade, tremendous progress has been made in our understanding, clinical evaluation, and management of hereditary colorectal cancer (CRC). This review provides an overview of recent developments and highlights opportunities and future challenges for clinical translation.Recent FindingsNovel genes have been identified associated with predisposition to CRC and polyposis including,POLE,POLD1,NTHL1,MSH3, andRNF43. Genetic testing has transitioned from phenotype-specific single-gene testing to multigene panels, and universal screening programmes for Lynch syndrome (LS) have been widely imp...
Source: Current Genetic Medicine Reports - April 3, 2020 Category: Genetics & Stem Cells Source Type: research

Genetic Testing for Cancer Predisposition Syndromes in Adolescents and Young Adults (AYAs)
AbstractPurpose of ReviewAdolescents and young adults (AYAs) represent a unique patient cohort, straddling the realms of paediatric and adult medicine. AYA cancers may include traditionally “paediatric” cancers occurring at older than expected ages, or conversely, adult-onset cancers occurring at unusually young ages. Cancer incidence in AYAs (aged 15–39) is increasing, and disappointingly, survival data are worse than those in paediatric or older adult settings. Early recognitio n of underlying cancer predisposition syndromes (CPS) in AYAs may facilitate individualised therapies, initiation of tumour sur...
Source: Current Genetic Medicine Reports - March 24, 2020 Category: Genetics & Stem Cells Source Type: research

An Update on the Role of Common Genetic Variation Underlying Substance Use Disorders
AbstractPurpose of the ReviewSample size increases have resulted in novel and replicable loci for substance use disorders (SUDs). We summarize some of the latest insights into SUD genetics and discuss next steps for the field.Recent FindingsGenome-wide association studies have substantiated the role of previously known variants (e.g., rs1229984 inADH1B for alcohol) and identified several novel loci for alcohol, tobacco, cannabis, opioid, and cocaine use disorders. SUDs are genetically correlated with psychiatric outcomes, while liability to substance use is inconsistently associated with these outcomes and more closely ass...
Source: Current Genetic Medicine Reports - March 17, 2020 Category: Genetics & Stem Cells Source Type: research

Ethical Issues in Genetic Testing for Inherited Cancer Predisposition Syndromes: the Potentially Conflicting Interests of Patients and Their Relatives
AbstractPurpose of ReviewThis review uses clinical cases to highlight some of the ethical dilemmas currently faced by oncologists, geneticists and others who request genetic testing for inherited cancer disorders.Recent FindingsRecent ethical guidance supports clinicians in testing patients when other family members decline similar testing, even when such testing will reveal those family members ’ genetic status. And increasingly there is acknowledgement that when a patient declines to share genetic results with family members, cliniciansmay have an ethical duty to breach patient confidentiality in order to inform at...
Source: Current Genetic Medicine Reports - March 17, 2020 Category: Genetics & Stem Cells Source Type: research

Recent Advances in Genetic Studies of Alcohol Use Disorders
AbstractPurpose of ReviewAlcohol use disorder (AUD) is a complex genetic disorder with very high heritability. Not only does this polygenic disorder result in increased morbidity and mortality, but it is also a substantial social and economic burden on families and the nation. For the past three decades, several genetic studies were conducted to identify genes and pathways associated with AUD. This review aims to summarize past efforts and recent advances in genetic association studies of AUD and related traits.Recent FindingsInitial genetic association studies achieved limited success and suffered from low power due to sm...
Source: Current Genetic Medicine Reports - March 17, 2020 Category: Genetics & Stem Cells Source Type: research

Alzheimer ’s Disease Genetics: Review of Novel Loci Associated with Disease
AbstractPurpose of the ReviewThe amyloid cascade hypothesis has shaped the Alzheimer ’s disease (AD) research field for the last 30 years. Originally hinged on mutations in theAPP pathway, its linearity has become limited to explain all the disease subtypes and features. The understanding of the disease has evolved significantly, now being viewed as a polygenic disease, with more and more risk genes uncovered by several approaches, namely, by genome-wide association studies. Here we reviewed the literature for the latest loci reported to be associated with Alzheimer ’s disease using genome-wide association...
Source: Current Genetic Medicine Reports - February 4, 2020 Category: Genetics & Stem Cells Source Type: research

Network Analysis for Complex Neurodegenerative Diseases
AbstractPurpose of ReviewBiomedicine is witnessing a paradigm shift in the way complex disorders are investigated. In particular, the need for big data interpretation has led to the development of pipelines that require the cooperation of different fields of expertise, including medicine, functional biology, informatics, mathematics and systems biology. This review sits at the crossroad of different disciplines and surveys the recent developments in the use of graph theory (in the form of network analysis) to interpret large and different datasets in the context of complex neurodegenerative diseases. It aims at a professio...
Source: Current Genetic Medicine Reports - January 17, 2020 Category: Genetics & Stem Cells Source Type: research

Application of Genomics to Clinical Practice in Haematological Malignancy
AbstractPurpose of ReviewThe usual abundance of fresh cells and high-quality DNA derived from bone marrow aspirate and peripheral blood mean haematological malignancies are at the forefront of the application of genomics to malignancy. This review evaluates where genomics is routinely used in clinical care and where opportunities for further application exist.Recent FindingsThe 2016 revision of the WHO classification of tumours of haematopoietic and lymphoid tissues increased the number of disease entities defined by, or whose diagnosis was strongly supported by, a specific genetic change. Increasingly combinations of muta...
Source: Current Genetic Medicine Reports - December 2, 2019 Category: Genetics & Stem Cells Source Type: research

Opportunities for Artificial Intelligence in Advancing Precision Medicine
AbstractPurpose of ReviewWe critically evaluate the future potential of machine learning (ML), deep learning (DL), and artificial intelligence (AI) in precision medicine. The goal of this work is to show progress in ML in digital health, to exemplify future needs and trends, and to identify any essential prerequisites of AI and ML for precision health.Recent FindingsHigh-throughput technologies are delivering growing volumes of biomedical data, such as large-scale genome-wide sequencing assays; libraries of medical images; or drug perturbation screens of healthy, developing, and diseased tissue. Multi-omics data in biomedi...
Source: Current Genetic Medicine Reports - December 1, 2019 Category: Genetics & Stem Cells Source Type: research

von Hippel-Lindau Disease: an Update
AbstractPurpose of ReviewIn this review, we discuss the key molecular and clinical developments in VHL disease that have the potential to impact on the natural history of the disease and improve patient outcomes.Recent FindingsIdentifiable mutations inVHL underlie most cases of VHL and define clear genotype-phenotype correlations. Detailed clinical and molecular characterisation has allowed the implementation of lifelong screening programmes that have improved clinical outcomes. Functional characterisation of the VHL protein complex has revealed its role in oxygen sensing and the mechanisms of tumourigenesis that are now b...
Source: Current Genetic Medicine Reports - November 28, 2019 Category: Genetics & Stem Cells Source Type: research

Advances in Epigenetics and Epigenomics in Chronic Lymphocytic Leukemia
AbstractPurpose of ReviewThe development and progression of chronic lymphocytic leukemia (CLL), a highly heterogenous B cell malignancy, are influenced by both genetic and environmental factors. Environmental factors, including pharmacological interventions, can affect the epigenetic landscape of CLL and thereby determine the CLL phenotype, clonal evolution, and clinical outcome. In this review, we critically present the latest advances in the field of CLL epigenomics/epigenetics in order to provide a systematic overview of to-date achievements and highlight the potential of epigenomics approaches in light of novel treatme...
Source: Current Genetic Medicine Reports - November 27, 2019 Category: Genetics & Stem Cells Source Type: research

An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A & gt;G (p.Ile1234Val) in Qatar
AbstractPurpose of ReviewCystic fibrosis (CF) is a monogenic recessive disease with multisystem involvement. The cause is a mutation in the gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The aim is to review the literature involving the CFTR I1234V mutation and to provide recommendations for future research activities.Recent FindingsThe prevalence rates of CFTR mutations vary across the globe. The CFTR I1234V mutation is the most common mutation in Qatar, and one of the most common in the Arabian Gulf region.SummaryAreas for future research include testing of the CFTR transcript a...
Source: Current Genetic Medicine Reports - November 22, 2019 Category: Genetics & Stem Cells Source Type: research

DNA Methylation and Type 2 Diabetes: the Use of Mendelian Randomization to Assess Causality
AbstractPurpose of ReviewThis review summarises recent advances in the field of epigenetics in order to understand the aetiology of type 2 diabetes (T2D).Recent FindingsDNA methylation at a number of loci has been shown to be robustly associated with T2D, includingTXNIP,ABCG1,CPT1A, andSREBF1. However, due to the cross-sectional nature of many epidemiological studies and predominant analysis in samples derived from blood rather than disease relevant tissues, inferring causality is difficult. We therefore outline the use of Mendelian randomisation (MR) as one method able to assess causality in epigenetic studies of T2D.Summ...
Source: Current Genetic Medicine Reports - November 15, 2019 Category: Genetics & Stem Cells Source Type: research

Laboratory Stewardship for Clinical Genetic Testing
AbstractPurpose of ReviewGenetic test stewardship programs are increasingly common within hospital and reference laboratories, as are genetic test optimization efforts by individual practitioners. Genetic counselors play a critical role in guiding providers to medically appropriate genetic tests. This short review aims to summarize the impact of genetic counselors and targeted stewardship interventions that improve genetic test utilization.Recent FindingsA variety of stewardship interventions exist that collectively help to eliminate unnecessary tests, support coordination of necessary tests, reduce order errors, and integ...
Source: Current Genetic Medicine Reports - November 6, 2019 Category: Genetics & Stem Cells Source Type: research

Multigene Cancer Panels: Implications for Pre- and Post-test Genetic Counseling
AbstractPurpose of ReviewThe availability of multigene cancer panel testing (MCPT) has revolutionized the care of individuals and families at risk for hereditary cancer. This review discusses fundamental components of genetic counseling, test selection, result interpretation, and follow-up related to MCPT.Recent FindingsRoutine use of MCPT increases the diagnostic yield for major hereditary cancers such as breast, ovarian, and colon, with the identification of pathogenic variants in high- and moderate-penetrance genes. In addition, the larger the panel, the more likely one or more variants of uncertain significance will be...
Source: Current Genetic Medicine Reports - November 4, 2019 Category: Genetics & Stem Cells Source Type: research

Biobanks in the Era of Genomic Data
AbstractPurpose of ReviewBiobank research brings together participants, their samples and data, and researchers to provide a productive and efficient resource that advances discovery, prevention, diagnosis, and treatment. This mini-review addresses the importance of governance issues regarding consent, privacy and confidentiality, data sharing, and return of results in biobanks that utilize genomic sequencing data.Recent FindingsWith the availability of genomic sequencing data, there is renewed attention to the value of biobank research. Governance components of consent, data sharing, privacy protections, and disclosure of...
Source: Current Genetic Medicine Reports - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Spinal Muscular Atrophy (SMA) in the Therapeutic Era
AbstractPurpose of ReviewSpinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation in theSMN1 gene. It is relatively common worldwide, affecting approximately 1 in 11,000 live births, and about 1 in every 54 individuals is a carrier. The FDA-approved nusinersen (Spinraza) in December 2016 and onasmenogene abeparvovec (Zolgensma) in May 2019 for treatment of SMA after clinical trials showed slowed progression, improved motor function, and improved survival in treated infants and children. This review is aimed at educating medical professionals to facilitate a better understanding of SMA genetics,...
Source: Current Genetic Medicine Reports - July 16, 2019 Category: Genetics & Stem Cells Source Type: research

Molecular Autopsy for Sudden Cardiac Death: Current State and Considerations
AbstractPurpose of ReviewThe study of the genetic basis of sudden cardiac death has been impacted by advances in sequencing technology, gene variant interpretation, and additional evaluation into the ideal clinical approach to assessing cause of death and the medical and psychological risks of surviving family members. This short review aims to summarize recent publications as well as provide context for future directions for the care of families faced with sudden cardiac death.Recent FindingsThe molecular autopsy is a critical method in determining cause of death, particularly in autopsy-negative sudden cardiac death. Alt...
Source: Current Genetic Medicine Reports - July 16, 2019 Category: Genetics & Stem Cells Source Type: research

Clinical Analysis of Whole Genome Sequencing in Cancer Patients
AbstractPurpose of ReviewWe discuss the current state of genomic testing for cancer in the UK, how this has been impacted by whole genome sequencing (WGS) and the 100,000 Genomes Project, along with approaches to reviewing whole genome analyses.Recent FindingsThe 100,000 Genomes Project has led to the development of new pathways for tissue handling and processing, variant interpretation and clinical reporting of cancer genomic testing. To our knowledge, this is the first paper discussing the recommended review process for WGS reports by the Genomics Tumour Advisory Board.SummaryThrough wider use of WGS and next-generation ...
Source: Current Genetic Medicine Reports - June 14, 2019 Category: Genetics & Stem Cells Source Type: research

Inherited Endocrine Neoplasia — A Comprehensive Review from Gland to Gene
AbstractPurpose of the ReviewThere has been a significant expansion in our knowledge of inherited endocrine neoplasia. This review describes syndromic and non-syndromic hereditary endocrine tumours, associated genetic testing, and progress in the management of the disease.Recent FindingsDisease-targeted genetic testing for endocrine neoplasia is routinely available, including recently identified endocrine tumour susceptibility genesGPR101,GCM2,DICER1, andARMC5. The recommendations for surveillance of those at risk of endocrine neoplasia are still evolving, as the evidence base is limited due to the rarity of these diseases...
Source: Current Genetic Medicine Reports - June 4, 2019 Category: Genetics & Stem Cells Source Type: research

Evaluating the Integration of Genomics into Cancer Screening Programmes: Challenges and Opportunities
AbstractPurpose of ReviewAs the costs of genomic testing have fallen, and our understanding of genetic susceptibility to cancers has grown, there has been increasing interest in incorporating testing for cancer susceptibility genes, and polygenic risk estimates, into population cancer screening. A growing body of evidence suggests that this would be both clinically and cost-effective. In this article, we aim to explore the frameworks used to evaluate screening programmes, evaluate whether population screening for cancer susceptibility can be assessed using these standards, and consider additional issues and outcomes of imp...
Source: Current Genetic Medicine Reports - May 18, 2019 Category: Genetics & Stem Cells Source Type: research

Breast Cancer Susceptibility —Towards Individualised Risk Prediction
AbstractPurpose of ReviewBreast cancer is the most common cancer among females in developed countries. Strategies such as early detection by breast cancer screening can reduce the burden of disease but have disadvantages including overdiagnosis and increased cost. Stratification of women according to the risk of developing breast cancer, based on genetic and lifestyle risk factors, could improve risk-reduction and screening strategies by targeting those most likely to benefit.Recent FindingsBreast cancer risk is partly determined by genetic factors including rare pathogenic variants in susceptibility genes and common low-r...
Source: Current Genetic Medicine Reports - May 17, 2019 Category: Genetics & Stem Cells Source Type: research

Cancer Genomics for Oncologists: Cancer Risk and Management of BRCA1 and BRCA2 Carriers
AbstractPurpose of ReviewThe rise of routine integration of genetic testing into oncological pathways, through initiatives such as mainstream testing, is making it increasingly important for oncologists to understand more about the wider implications of inherited mutations in cancer susceptibility genes. This is vital to facilitate accurate information-giving by oncologists, taking informed consent for testing, and to ensure they are referring patients appropriately for risk reduction strategies such as screening. In this review, the most relevant information for oncologists discussing and consenting patients will be discu...
Source: Current Genetic Medicine Reports - May 9, 2019 Category: Genetics & Stem Cells Source Type: research

The Changing Role of the Genetic Counsellor in the Genomics Era
AbstractPurpose of ReviewRapid advances in the scope, affordability and clinical utility of genetic testing have driven significant change and expansion of the genetic counselling profession. Increasing volume, complexity and diversity of patients and their genomic data present a challenge. To manage this, examination of how genetic counsellors can adapt and thrive in the genomics era is warranted.Recent FindingsDigital applications, web-based educational platforms and artificial intelligence are being harnessed to support and enhance genetic counselling delivery for patients and consumers. Genetic counsellors are also ide...
Source: Current Genetic Medicine Reports - May 2, 2019 Category: Genetics & Stem Cells Source Type: research

Management and Screening in Neurofibromatosis Types 1 and 2
AbstractPurpose of ReviewNeurofibromatosis types 1 and 2 (NF1& NF2) are complex genetic diseases that provide challenges in diagnosis, monitoring, clinical management and genetic counselling. This review highlights these challenges and provides insight into the general and specialist management considerations.Recent FindingsMultidisciplinary care with a focus on evidence based interventions and quality of life outcomes has benefited patients. Anti-VEGF therapy has recently altered the management paradigm for NF2. Other novel molecularly targeted therapies are being trialled in both NF1 and NF2. Improved understanding o...
Source: Current Genetic Medicine Reports - May 2, 2019 Category: Genetics & Stem Cells Source Type: research

Consent and Autonomy in the Genomics Era
AbstractPurpose of ReviewGenomic tests offer increased opportunity for diagnosis, but their outputs are often uncertain and complex; results may need to be revised and/or may not be relevant until some future time. We discuss the challenges that this presents for consent and autonomy.Recent FindingsPopular discourse around genomic testing tends to be strongly deterministic and optimistic, yet many findings from genomic tests are uncertain or unclear. Clinical conversations need to anticipate and potentially challenge unrealistic expectations of what a genomic test can deliver in order to enhance autonomy and ensure that co...
Source: Current Genetic Medicine Reports - May 2, 2019 Category: Genetics & Stem Cells Source Type: research

GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations
AbstractPurpose of ReviewNeurodegenerative diseases, neuropsychiatric disorders, and related traits have highly complex etiologies but are also highly heritable; identifying the causal genes and biological pathways underlying these traits may advance the development of treatments and preventive strategies. While many genome-wide association studies (GWAS) have successfully identified variants contributing to polygenic neurodegenerative and neuropsychiatric phenotypes including Alzheimer ’s disease (AD), schizophrenia (SCZ), and bipolar disorder (BPD) among others, interpreting the biological roles of significantly as...
Source: Current Genetic Medicine Reports - February 14, 2019 Category: Genetics & Stem Cells Source Type: research

Benefits and Challenges of Rare Genetic Variation in Alzheimer ’s Disease
AbstractPurpose of ReviewIt is well established that sporadic Alzheimer ’s disease (AD) is polygenic with common and rare genetic variation alongside environmental factors contributing to disease. Here, we review our current understanding of the genetic architecture of disease, paying specific attention to rare susceptibility variants, and explore some of the limitati ons in rare variant detection and analysis.Recent FindingsRare variation has been shown to robustly associate with disease. These include potentially damaging and loss of function mutations that are easily modelled in silico, in vitro and in vivo, and r...
Source: Current Genetic Medicine Reports - February 1, 2019 Category: Genetics & Stem Cells Source Type: research

Recent Advances in the Genetics of Frontotemporal Dementia
AbstractPurpose of ReviewIn this review, we highlight recent advances in the human genetics of frontotemporal dementia (FTD). In addition to providing a broad survey of genes implicated in FTD in the last several years, we also discuss variation in genes implicated in both hereditary leukodystrophies and risk for FTD (e.g.,TREM2,TMEM106B,CSF1R,AARS2,NOTCH3).Recent FindingsOver the past 5  years, genetic variation in approximately 50 genes has been confirmed or suggested to cause or influence risk for FTD and FTD-spectrum disorders. We first give background and discuss recent findings related toC9ORF72,GRN, andMAPT, th...
Source: Current Genetic Medicine Reports - January 30, 2019 Category: Genetics & Stem Cells Source Type: research

Protective Variants in Alzheimer ’s Disease
AbstractPurpose of ReviewOver the last decade, over 40 loci have been associated with risk of Alzheimer ’s disease (AD). However, most studies have either focused on identifying risk loci or performing unbiased screens without a focus on protective variation in AD. Here, we provide a review of known protective variants in AD and their putative mechanisms of action. Additionally, we recommend strateg ies for finding new protective variants.Recent FindingsRecent Genome-Wide Association Studies have identified both common and rare protective variants associated with AD. These include variants in or nearAPP,APOE,PLCG2,MS...
Source: Current Genetic Medicine Reports - January 24, 2019 Category: Genetics & Stem Cells Source Type: research

Sex Differences in the Genetic Architecture of Alzheimer ’s Disease
AbstractPurpose of ReviewSummarize sex-specific contributors to the genetic architecture of Alzheimer ’s disease (AD).Recent FindingsThere are sex differences in the effects of apolipoprotein E (APOE), genes along theAPOE pathway, and genes along the neurotrophic signaling pathway in predicting AD. Reported sex differences are largely driven by stronger associations among females. Evidence also suggests that genetic predictors of amyloidosis are largely shared across sexes, while sex-specific genetic effects emerge downstream of amyloidosis and drive the clinical manifestation of AD.SummaryThere is a lack of comprehe...
Source: Current Genetic Medicine Reports - January 21, 2019 Category: Genetics & Stem Cells Source Type: research

Polygenic Risk Scores in Neurodegenerative Diseases: a Review
AbstractPurpose of the ReviewThis review summarizes the current state of the art of polygenic risk scores (PRSs) in the assessment of risk for neurodegenerative diseases.Recent FindingsPolygenic risk scores have been used to identify the shared genetic architecture between comorbid complex traits, disease presentations, and disease endophenotypes.SummaryThe pathological and symptomatologic overlap between neurodegenerative diseases is strikingly high. In some cases, the diagnostic decision is arbitrary depending on the first appearance of symptomatology. Genetic studies have demonstrated that the genetic architecture of ea...
Source: Current Genetic Medicine Reports - January 17, 2019 Category: Genetics & Stem Cells Source Type: research

A Brief Synopsis on the Genetics of Alzheimer ’s Disease
(Source: Current Genetic Medicine Reports)
Source: Current Genetic Medicine Reports - October 30, 2018 Category: Genetics & Stem Cells Source Type: research

Tipping the Scale Towards Gastric Disease: a Host-Pathogen Genomic Mismatch?
AbstractPurpose of ReviewChronic infection withHelicobacter pylori infection is necessary but not sufficient to initiate development of intestinal-type gastric adenocarcinoma. It is not clear what additional factors tip the scale from commensal bacteria towards a pathogen that facilitates development of gastric cancer. Genetic variants in both the pathogen and host have been implicated, but neither alone explains a substantial portion of disease risk.Recent FindingsIn this review, we consider studies that address the important role of human and bacterial genetics and ancestry and their interactions in determining gastric d...
Source: Current Genetic Medicine Reports - October 10, 2018 Category: Genetics & Stem Cells Source Type: research

Admixture, Genetics and Complex Diseases in Latin Americans and US Hispanics
AbstractPurpose of the ReviewWe review population and epidemiological genetics studies in Latin Americans and US Hispanics/Latinos, who are product of admixture between Europeans, Africans, and Native Americans.Recent FindingsAdmixture studies identified a Southeastern-Africa/Bantu ancestry component more prevalent in Brazil. Contrasting dynamics of Native American introgression into admixed populations were inferred:>  400 years ago in Brazil, where Native American populations were decimated afterwards, and concentrated on the last 300 years in Peru, a predominantly indigenous country. Associations hav...
Source: Current Genetic Medicine Reports - September 29, 2018 Category: Genetics & Stem Cells Source Type: research

Micronuclei and What They Can Tell Us in Cytogenetic Diagnostics
AbstractPurpose of ReviewThe micronucleus (MN) assay is a validated method of genetic toxicology, widely used for human biomonitoring studies. This review summarizes and discusses current data regarding involvement of MN in pathogenesis of different diseases, potential of MN assay to be used as cytogenetic diagnostic technique, as well as highlights current achievements in studies concerning clinically relevant chromosomal instability using MN assay.Recent FindingsRecent studies suggested that MN are indicator of pathological events in affected as well as not affected “target” tissues of an organism. They can b...
Source: Current Genetic Medicine Reports - September 27, 2018 Category: Genetics & Stem Cells Source Type: research

Towards Cultural Competence in the Genomic Age: a Review of Current Health Care Provider Educational Trainings and Interventions
This article reviews the impact of cultural influences on the medical genomics and genetic counseling processes, as well as educational and interventional strategies available for health care professionals.Recent FindingsWhile cultural competence training and educational opportunities are available to most health care providers, there is limited published literature on the utilization and effectiveness of these interventions. Recent reviews acknowledge the equal importance of awareness, knowledge, and skills within cultural competence training and interventions; however, there is a lack of understanding of how a cultural c...
Source: Current Genetic Medicine Reports - September 26, 2018 Category: Genetics & Stem Cells Source Type: research

Conventional Cytogenetic Approaches —Useful and Indispensable Tools in Discovering Fish Biodiversity
AbstractPurpose of ReviewFishes exhibit the greatest biodiversity among extant vertebrates. In fact, about 34,000 fish species are currently estimated, of which ~  25% are living in Neotropical freshwaters. Currently, several leading-edge studies using molecular biology procedures have largely contributed to the investigation of the fish genomic architecture at the chromosomal level. In this review, we intend to demonstrate that conventional cytogenetics is also a powerful procedure to identify and clarify both individual and inter- or intrapopulational fish characteristics and to unveil their biodiversity.Recent Fi...
Source: Current Genetic Medicine Reports - September 25, 2018 Category: Genetics & Stem Cells Source Type: research

Fragile Sites as Drivers of Gene and Genome Evolution
AbstractPurpose of ReviewAlthough the detailed composition of the human genome is known base by base for its major part, the orchestration of and which elements exactly facilitate organization and flexibility of higher order gene and genome architecture, are poorly understood and scarcely studied.Recent FindingsThis review focuses on fragile sites (FSs). They are considered as regions of chromosome breakage with overlapping signatures for breakpoints observed repeatedly in tumor and constitutional rearrangements, and also in evolutionary conserved breakpoints. Thus, FSs are promising targets to study and get deeper insight...
Source: Current Genetic Medicine Reports - September 25, 2018 Category: Genetics & Stem Cells Source Type: research

Conventional Cytogenetic Approaches —Useful and Indispensable Tools in Discovering Fish Biodiversity
AbstractPurpose of ReviewFishes exhibit the greatest biodiversity among extant vertebrates. In fact, about 34,000 fish species are currently estimated, of which ~  25% are living in Neotropical freshwaters. Currently, several leading-edge studies using molecular biology procedures have largely contributed to the investigation of the fish genomic architecture at the chromosomal level. In this review, we intend to demonstrate that conventional cytogenetics is also a powerful procedure to identify and clarify both individual and inter- or intrapopulational fish characteristics and to unveil their biodiversity.Recent Fi...
Source: Current Genetic Medicine Reports - September 25, 2018 Category: Genetics & Stem Cells Source Type: research

Fragile Sites as Drivers of Gene and Genome Evolution
AbstractPurpose of ReviewAlthough the detailed composition of the human genome is known base by base for its major part, the orchestration of and which elements exactly facilitate organization and flexibility of higher order gene and genome architecture, are poorly understood and scarcely studied.Recent FindingsThis review focuses on fragile sites (FSs). They are considered as regions of chromosome breakage with overlapping signatures for breakpoints observed repeatedly in tumor and constitutional rearrangements, and also in evolutionary conserved breakpoints. Thus, FSs are promising targets to study and get deeper insight...
Source: Current Genetic Medicine Reports - September 25, 2018 Category: Genetics & Stem Cells Source Type: research

Human Molecular Neurocytogenetics
AbstractPurpose of ReviewDuring the last decade, genomics has delivered basic insight into somatic genome variations contributing to human neuronal diversity in health and disease. Here, we review research on somatic chromosomal mosaicism and chromosome instability in the developing and adult (normal and diseased) human brain, representing the emerging field of molecular neurocytogenetics.Recent FindingsChromosome instability and somatic chromosomal mosaicism were found to be involved in human brain development. Additionally, recent studies have highlighted the impact of neuronal aneuploidy and brain-specific chromosome in...
Source: Current Genetic Medicine Reports - September 19, 2018 Category: Genetics & Stem Cells Source Type: research

Significance of Cytogenetics in Leukemia Diagnostics
AbstractPurpose of ReviewDespite the rapid development of molecular techniques, cytogenetic analysis is still an indispensable tool in understanding the pathology of leukemia. The significance of cytogenetics in leukemia is reviewed in terms of its classification, diagnosis, prognosis, and risk stratification, which are all important to guide further treatments based on published clinical trials.Recent FindingsAccording to the 2016 revised World Health Organization (WHO) classification of leukemia, various well-known clinical practice guidelines in the routine diagnostic workup of leukemias and many large worldwide cohort ...
Source: Current Genetic Medicine Reports - September 18, 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 - September 1, 2018 Category: Genetics & Stem Cells Source Type: research

Genetics of Subclinical Coronary Atherosclerosis
AbstractPurpose of ReviewThis review highlights recent findings regarding genetics of coronary artery calcification (CAC), a marker of subclinical atherosclerosis burden, that is a precursor of clinical coronary artery disease.Recent FindingsCAC quantity is heritable. Genome-wide association studies of common single nucleotide polymorphisms have identified genomic regions explaining ~  2.4% of CAC heritability. Low-frequency and rare variants explain additional variation in CAC. Evidence suggests that there may be different genetic etiologies for variation in CAC progression than for cross-sectional measures of CAC....
Source: Current Genetic Medicine Reports - September 1, 2018 Category: Genetics & Stem Cells Source Type: research