scholarly journals Genomics and predictive medicine

2021 ◽  
Vol 36 (4) ◽  
pp. 14-28
Author(s):  
V. S. Baranov
Keyword(s):  
Single Gene ◽  
Molecular Genetic ◽  
Medical Genetics ◽  
Predictive Medicine ◽  
Systems Genetics ◽  
Genetic Associations ◽  
Health Records ◽  
Multifactorial Diseases ◽  
Structure And Functions ◽  
Genetic Passport

Progress in understanding of structural and functional human genome organization and deciphering primary DNA sequence in human cells allowed for hitherto unreachable new capabilities of medical genetics in identifying the causes and mechanisms of inherited and inborn pathology. Implementation of genetics into medicine is progressively advancing along with improvement of molecular analysis of genome. Knowledge of genome and its functions allows to provide more accurate diagnosis, predict, to a considerable extent, the presence of genetic predisposition of a person to pathology, and to assess the chances for developing one or another disease. This approach became the basis for a new area of medical genetics named predictive medicine. The progress of predictive medicine refl ects success in tremendous upgrowth of molecular genetic methods and new capabilities of studying structure and functions of genome. Within less than 15 years after deciphering genome, medical genetics has travelled a long way from a single gene analysis to whole genome studies, from screening of genetic associations to systems genetics of multifactorial diseases, from translational to high-precision genetics, and from genetic passport idea to electronic genetic health records. The development of a genetic passport, prognostic genetic testing, and genomic chart of reproductive health is especially relevant for current practical medicine.

scholarly journals Molecular genetics of bipolar disorder

2001 ◽  
Vol 178 (S41) ◽  
pp. s128-s133 ◽  
Author(s):  
Nick Craddock ◽  
Ian Jones
Keyword(s):  
Bipolar Disorder ◽  
Candidate Gene ◽  
Molecular Genetics ◽  
Ethical Issues ◽  
Association Studies ◽  
Single Gene ◽  
Molecular Genetic ◽  
Genetic Dissection ◽  
Adoption Studies ◽  
Candidate Gene Association

BackgroundA robust body of evidence from family, twin and adoption studies demonstrates the importance of genes in the pathogenesis of bipolar disorder. Recent advances in molecular genetics have made it possible to identify these susceptibility genes.AimsTo present an overview for clinical psychiatrists.MethodReview of current molecular genetics approaches and emerging findings.ResultsOccasional families may exist in which a single gene plays a major role in determining susceptibility, but the majority of bipolar disorder involves more complex genetic mechanisms such as the interaction of multiple genes and environmental factors. Molecular genetic positional and candidate gene approaches are being used for the genetic dissection of bipolar disorder. No gene has yet been identified but promising findings are emerging. Regions of interest include chromosomes 4p16, 12q23–q24, 16p13, 21q22, and Xq24–q26. Candidate gene association studies are in progress but no robust positive findings have yet emerged.ConclusionIt is almost certain that over the next few years the identification of bipolar susceptiblity genes will have a major impact on our understanding of disease pathophysiology. This is likely to lead to major improvements and treatment in patient care, but will also raise important ethical issues.

Epigenetics and Applied Anthropology

2021 ◽  
Author(s):  
Charles H. Klein
Keyword(s):  
Social Inequalities ◽  
Homo Sapiens ◽  
Single Gene ◽  
Molecular Genetic ◽  
Healthcare Providers ◽  
Basic Research ◽  
Sufficient Information ◽  
Theoretical Frameworks ◽  
Noncoding Dna ◽  
Wide Range

Since Francis Crick and James D. Watson’s discovery of DNA in 1953, researchers, policymakers, and the general public have sought to understand the ways in which genetics shapes human lives. A milestone in these efforts was the completion of the Human Genome Project’s (HGP) sequencing of Homo sapiens’ nearly three million base pairs in 2003. Yet, despite the excitement surrounding the HGP and the discovery of the structural genetic underpinnings of several debilitating diseases, the vast majority of human health outcomes have not been linked to a single gene. Moreover, even when genes have been associated with particular diseases (e.g., breast and colon cancer), it is not well understood why certain genetically predisposed individuals become ill and others do not. Nor has the HGP’s map provided sufficient information to understand the actual functioning of the human genetic code, including the role of noncoding DNA (“junk DNA”) in regulating molecular genetic processes. In response, a growing number of scientists have shifted their attention from structural genetics to epigenetics, the study of how genes express themselves in particular situations and environments. Anthropologists play roles in these applications of epigenetics to real-world settings. Their new theoretical frameworks unsettle the nature-versus-nurture binary and support biocultural anthropological research demonstrating how race becomes biology and embodies social inequalities and health disparities across generations. Ethnographically grounded case studies further highlight the diverse epigenetic logics held by healthcare providers, researchers, and patient communities and how these translations of scientific knowledge shape medical practice and basic research. The growing field of environmental epigenetics also offers a wide range of options for students and practitioners interested in applying the anthropological toolkit in epigenetics-related work.

Does the ADA Provide Protection Against Discrimination on the Basis of Genotype?

1995 ◽  
Vol 23 (2) ◽  
pp. 167-172 ◽  
Author(s):  
Joseph S. Alper
Keyword(s):  
Americans With Disabilities Act ◽  
Genetic Disorder ◽  
Single Gene ◽  
Genetic Discrimination ◽  
Healthy Individuals ◽  
Multifactorial Diseases ◽  
Total Incidence ◽  
Single Gene Disorders ◽  
Near Future ◽  
The U.S

As a consequence of the problems caused by genetic discrimination, federal and state law makers are being pressured to pass a legislative remedy. A primary question is whether the Americans with Disabilities Act of 1990 (ADA) applies to (1) individuals with a potentially disabling genetic disorder who are pre-symptomatic or asymptomatic and may never become ill and to (2) healthy individuals who are carriers of genetic conditions. At present, this question has relevance principally for individuals with the genotype for single gene disorders, like Huntington disease and hemochromatosis, and to asymptomatic carriers of single gene disorders such as cystic fibrosis. Although many such single gene conditions exist, the total incidence of these conditions in the U.S. population is less than 0.4 percent. However, the question concerning the applicability of the ADA will become increasingly important because genetic tests will almost certainly be developed in the near future for common multifactorial diseases like diabetes, heart disease, and certain forms of cancer.

Reaching Future Scientists, Consumers, & Citizens

2014 ◽  
Vol 76 (6) ◽  
pp. 379-383 ◽  
Author(s):  
Melissa A. Hicks ◽  
Rebecca J. Cline ◽  
Angela M. Trepanier
Keyword(s):  
Personalized Medicine ◽  
Genetic Basis ◽  
Genetic Disorders ◽  
Single Gene ◽  
Personal Health ◽  
Adult Onset ◽  
Biology Textbooks ◽  
Multifactorial Diseases ◽  
Single Gene Disorders

An understanding of how genomics information, including information about risk for common, multifactorial disease, can be used to promote personal health (personalized medicine) is becoming increasingly important for the American public. We undertook a quantitative content analysis of commonly used high school textbooks to assess how frequently the genetic basis of common multifactorial diseases was discussed compared with the “classic” chromosomal–single gene disorders historically used to teach the concepts of genetics and heredity. We also analyzed the types of conditions or traits that were discussed. We identified 3957 sentences across 11 textbooks that addressed multifactorial and “classic” genetic disorders. “Classic” gene disorders were discussed relatively more frequently than multifactorial diseases, as was their genetic basis, even after we enriched the sample to include five adult-onset conditions common in the general population. Discussions of the genetic or hereditary components of multifactorial diseases were limited, as were discussions of the environmental components of these conditions. Adult-onset multifactorial diseases are far more common in the population than chromosomal or single-gene disorders; many are potentially preventable or modifiable. As such, they are targets for personalized medical approaches. The limited discussion in biology textbooks of the genetic basis of multifactorial conditions and the role of environment in modifying genetic risk may limit the public’s understanding and use of personalized medicine.

The role of molecular genetic alterations in genes involved in folate and homocysteine metabolism in multifactorial diseases pathogenesis

2017 ◽  
Vol 53 (5) ◽  
pp. 528-541
Author(s):  
A. M. Burdennyy ◽  
V. I. Loginov ◽  
T. M. Zavarykina ◽  
E. A. Braga ◽  
A. A. Kubatiev
Keyword(s):  
Molecular Genetic ◽  
Genetic Alterations ◽  
Multifactorial Diseases

Cytogenetics and molecular genetics

2011 ◽  
pp. 1375-1380
Author(s):  
Dieter Meschede ◽  
Frank Tüttelmann
Keyword(s):  
Clinical Skills ◽  
Single Gene ◽  
Molecular Genetic ◽  
Practical Importance ◽  
Cell Lineage ◽  
Diagnostic Process ◽  
Meiotic Pairing ◽  
Molecular Tests ◽  
Endocrine Disturbances ◽  
Diagnostic Work

Genetic aberrations are important causes of spermatogenic and endocrine testicular failure. Often, clinical skills are insufficient to demonstrate the primary genetic nature of a gonadal disorder, and cytogenetic and molecular tests should be considered for the diagnostic process (Table 9.5.3.1) (1–7). They are helpful, not only for establishing the basic aetiology of certain types of male endocrine disturbances, but also in that karyotyping and some DNA tests have attained a pivotal role in genetic risk counselling for severely infertile couples. Also, the diagnosis of a chromosomal abnormality or single gene mutation in an infertile man can have repercussions for other members of his family. They may carry the same type of genetic aberration, and thus be at increased risk for inadvertent reproductive outcomes. The most time-honoured method in male endocrinology is the analysis of banded metaphase chromosome preparations from blood lymphocytes, which remains of undiminished practical importance (8, 9). This technique allows for the direct visualization of the complete set of chromosomes in a somatic cell lineage and provides information on both chromosome number and structure. However, a regular karyotype in somatic cells, such as lymphocytes, does not necessarily translate into normal meiotic pairing and segregation of the chromosomes in the germ cell lineage. Meiotic cell preparations and ejaculated spermatozoa may thus be included in the diagnostic work-up of an infertile man. The place of these techniques is more in the realm of research than of daily clinical practice, as discussed below. In contrast, several molecular genetic tests are firmly established as valuable diagnostic tools. Details concerning the two most important tests, mutation analysis of the CFTR gene and screening for Y-chromosomal microdeletions, are given below.

Genetic epidemiology 2: molecular genetics

2003 ◽  
pp. 335-356
Author(s):  
David Collier ◽  
Tao Li
Keyword(s):  
Molecular Genetics ◽  
Single Gene ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Primary Objective ◽  
Great Success ◽  
Complex Disorder ◽  
Single Gene Disorders ◽  
Human Disorders ◽  
Rapid Pace

The previous chapter has focused on methods for identifying familial clustering of disorders or traits, and on methods for distinguishing between shared genetic and environmental influences. The primary objective for this chapter is to outline techniques for identifying specific genes responsible for an observed phenotype. The theoretical basis of complex and quantitative traits was established many decades ago. However practical methods for the efficient molecular analysis of the human genome have only recently emerged. Alongside these developments, the molecular genetic analysis of human disorders has moved at a rapid pace. Molecular genetics has focused on single gene disorders with great success, whereas for complex psychiatric disorders, few genetic risk factors have been identified. However the tools used by the complex disorder geneticist have evolved rapidly in the last few years and better strategies and statistical methods continue to appear. This chapter outlines some established and novel approaches to the analysis of the genetics of complex human disorders. A basic understanding of genetical statistics will be useful.

scholarly journals Molecular Genetic Analysis of Nucleotide Polymorphisms Associated with Ethambutol Resistance in Human Isolates ofMycobacterium tuberculosis

2000 ◽  
Vol 44 (2) ◽  
pp. 326-336 ◽  
Author(s):  
Srinivas V. Ramaswamy ◽  
Amol G. Amin ◽  
Servet Göksel ◽  
Charles E. Stager ◽  
Shu-Jun Dou ◽  
...  
Keyword(s):  
Amino Acid ◽  
Single Gene ◽  
Molecular Genetic ◽  
Regulatory Region ◽  
Amino Acid Replacement ◽  
Molecular Genetic Analysis ◽  
Central Component ◽  
Nucleotide Polymorphisms ◽  
Molecular Change

ABSTRACT Ethambutol (EMB) is a central component of drug regimens used worldwide for the treatment of tuberculosis. To gain insight into the molecular genetic basis of EMB resistance, approximately 2 Mb of five chromosomal regions with 12 genes in 75 epidemiologically unassociated EMB-resistant and 33 EMB-susceptible Mycobacterium tuberculosis strains isolated from human patients were sequenced. Seventy-six percent of EMB-resistant organisms had an amino acid replacement or other molecular change not found in EMB-susceptible strains. Thirty-eight (51%) EMB-resistant isolates had a resistance-associated mutation in only 1 of the 12 genes sequenced. Nineteen EMB-resistant isolates had resistance-associated nucleotide changes that conferred amino acid replacements or upstream potential regulatory region mutations in two or more genes. Most isolates (68%) with resistance-associated mutations in a single gene had nucleotide changes in embB, a gene encoding an arabinosyltransferase involved in cell wall biosynthesis. The majority of these mutations resulted in amino acid replacements at position 306 or 406 of EmbB. Resistance-associated mutations were also identified in several genes recently shown to be upregulated in response to exposure of M. tuberculosis to EMB in vitro, including genes in theiniA operon. Approximately one-fourth of the organisms studied lacked mutations inferred to participate in EMB resistance, a result indicating that one or more genes that mediate resistance to this drug remain to be discovered. Taken together, the results indicate that there are multiple molecular pathways to the EMB resistance phenotype.

scholarly journals Introduction to Molecular Genetic Diagnostics / UVOD U MOLEKULARNU GENETIČU DIJAGNOSTIKU

2014 ◽  
Vol 33 (1) ◽  
pp. 3-7 ◽  
Author(s):  
Ivana Novaković ◽  
Nela Maksimović ◽  
Aleksandra Pavlović ◽  
Milena Žarković ◽  
Branislav Rovčanin ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Single Gene ◽  
Molecular Genetic ◽  
Drug Efficacy ◽  
Genetic Diagnostics ◽  
Molecular Genetic Testing ◽  
Main Method ◽  
Molecular Genetic Diagnostics ◽  
Modern Medical Practice

Summary Molecular genetic testing is part of modern medical practice. DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases, while their application in polygenic disorders is still limited. Pharmacogenetics studies DNA variants associated with variations in drug efficacy and toxicity, and tests in this field are being developed rapidly. The main method for molecular genetic testing is the polymerase chain reaction, with a number of modifications. New methods, such as next generation sequencing and DNA microarray, should allow simultaneous analysis of a number of genes, even whole genome sequencing. Ethical concerns in molecular genetic testing are very important, along with legislation. After molecular genetic testing, interpretation of results and genetic counseling should be done by professionals. With the example of thrombophilia, we discuss questions about genetic testing, its possibilities and promises.

scholarly journals GENETICS OF PHOBIC DISORDERS

2021 ◽  
pp. 245-256
Author(s):  
V. Pomohaibo ◽  
O. Berezan ◽  
A. Petrushov
Keyword(s):  
Candidate Genes ◽  
Association Studies ◽  
Meta Analysis ◽  
Molecular Genetic ◽  
Genome Wide Association Studies ◽  
Potential Candidate ◽  
Social Phobias ◽  
Phobic Disorders ◽  
Multifactorial Diseases ◽  
Statistical Validity

At present time, on the basis of genome-wide association studies (GWAS), several authors found linkage of phobic disorders with certain regions of chromosomes – 3q26 (agoraphobia), 14q13 (specific phobias), 16q21 (social phobias), 16q22 (social phobias) and 4q31-q34 (phobic disorders). We propose 19 genes that are localized in these regions and are expressed in the brain: PRKCI, CLDN11, EIF5A2, TNIK, CLCN3, CPE, GLRB, GRIA2, NEK1, NPY2R, NPY5R, RAPGEF2,  TRIM2, SMAD1, ADGRG1, BEAN1, CDH8, DOK4 and KATNB1. Therefore, these genes may be investigated as candidate genes of phobic disorders. Various sources propose 26 potential candidate genes of phobic disorders. Finnish geneticist J. Donner carries out a meta-analysis to study the 8 most probable among them and corroborates statistical validity only for 4 genes: ALAD, CDH2, EPB41L4A and GAD1. First three genes are involved in the social phobias, and fourth is involved in whole phobic disorders. Phobias are heterogeneous and multifactorial diseases. To understand the biological mechanisms of such disorders, to create effective methods for their prevention and treatment, there are needed further intensive molecular genetic studies of these disorders on sufficiently large samples and corroborating these results by other authors.

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