scholarly journals The genetic basis of disease

2018 ◽  
Vol 62 (5) ◽  
pp. 643-723 ◽  
Author(s):  
Maria Jackson ◽  
Leah Marks ◽  
Gerhard H.W. May ◽  
Joanna B. Wilson
Keyword(s):  
Human Disease ◽  
Genetic Basis ◽  
Single Gene ◽  
Complex Disorders ◽  
Chromosomal Imbalances ◽  
Technological Advances ◽  
Single Gene Disorders ◽  
All Diseases

Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and considers how our understanding and technological advances can be applied to provision of appropriate diagnosis, management and therapy for patients.

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.

scholarly journals The genetic basis of infertility

Reproduction ◽  
2003 ◽  
pp. 13-25 ◽  
Author(s):  
K Shah ◽  
G Sivapalan ◽  
N Gibbons ◽  
H Tempest ◽  
DK Griffin
Keyword(s):  
Genetic Basis ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Single Gene ◽  
Chromosome Translocations ◽  
Susceptibility To Infection ◽  
Single Gene Disorders ◽  
Males And Females ◽  
One Year ◽  
Specific Disorders

Infertility is defined as the inability to conceive after one year of regular unprotected intercourse; approximately one in six couples wishing to start a family fall into this category. Although, in many cases, the diagnosis is simply 'unexplained', a variety of reasons including lack of ovulation, mechanical stoppage, sperm deficiencies and parental age have been implicated. It is difficult to assess accurately the overall magnitude of the contribution of genetics to infertility as most, if not all, conditions are likely to have a genetic component, for example susceptibility to infection. Nevertheless, a significant number of infertility phenotypes have been associated with specific genetic anomalies. The genetic causes of infertility are varied and include chromosomal abnormalities, single gene disorders and phenotypes with multifactorial inheritance. Some genetic factors influence males specifically, whereas others affect both males and females. For example, chromosome translocations affect both males and females, whereas Klinefelter syndrome and the subsequent infertility phenotype caused by it are specific to males. This article reviews current research in the genetic basis of infertility; gender-specific disorders and those affecting both sexes are considered.

Synaptic Plasticity as a Therapeutic Target in the Treatment of Autism-related Single-gene Disorders

2013 ◽  
Vol 19 (36) ◽  
pp. 6480-6490 ◽  
Author(s):  
Marco Pignatelli ◽  
Marco Feligioni ◽  
Sonia Piccinin ◽  
Gemma Molinaro ◽  
Ferdinando Nicoletti ◽  
...  
Keyword(s):  
Synaptic Plasticity ◽  
Therapeutic Target ◽  
Single Gene ◽  
Single Gene Disorders

Pathophysiology and therapy for haemoglobinopathies; Part II: thalassaemias

2006 ◽  
Vol 8 (10) ◽  
pp. 1-26 ◽  
Author(s):  
Fabrizia Urbinati ◽  
Catherine Madigan ◽  
Punam Malik
Keyword(s):  
Single Gene ◽  
Globin Gene ◽  
Marrow Transplant ◽  
World Population ◽  
Symptomatic Therapy ◽  
Globin Genes ◽  
Cell Disease ◽  
Critical Function ◽  
Single Gene Disorders ◽  
Clinical Syndromes

Thalassaemias result from mutations of the globin genes that cause reduced or absent haemoglobin production and thus interfere with the critical function of oxygen delivery. They represent the most common single-gene disorders, with 4.83% of the world population carrying globin gene variants. Reduced or absent α-globin (α-thalassaemia) or β-globin (β-thalassaemia) leads to anaemia and multifaceted clinical syndromes. In this second of two reviews on the pathophysiology of haemoglobinopathies, we describe the clinical features, pathophysiology and molecular basis of α- and β-thalassaemias. We then discuss current targeted therapies, including the new oral iron chelators, which, along with chronic transfusions, constitute the mainstay of symptomatic therapy for the majority of patients. Finally, we describe potentially curative therapies, such as bone marrow transplant, and discuss some of the outstanding research studies and questions, including the upcoming field of gene therapy for β-thalassaemia. An accompanying article on haemoglobinopathies (Part I) focuses on sickle cell disease.

scholarly journals The genomics of adaptation

2012 ◽  
Vol 279 (1749) ◽  
pp. 5024-5028 ◽  
Author(s):  
Jacek Radwan ◽  
Wiesław Babik
Keyword(s):  
Genetic Variation ◽  
Natural Selection ◽  
Royal Society ◽  
Genetic Basis ◽  
Genomic Data ◽  
Evolutionary Change ◽  
Introductory Article ◽  
Technological Advances ◽  
A Genome ◽  
Genome Level

The amount and nature of genetic variation available to natural selection affect the rate, course and outcome of evolution. Consequently, the study of the genetic basis of adaptive evolutionary change has occupied biologists for decades, but progress has been hampered by the lack of resolution and the absence of a genome-level perspective. Technological advances in recent years should now allow us to answer many long-standing questions about the nature of adaptation. The data gathered so far are beginning to challenge some widespread views of the way in which natural selection operates at the genomic level. Papers in this Special Feature of Proceedings of the Royal Society B illustrate various aspects of the broad field of adaptation genomics. This introductory article sets up a context and, on the basis of a few selected examples, discusses how genomic data can advance our understanding of the process of adaptation.

THE SURGICAL MANAGEMENT OF PEDIATRIC HYDROCEPHALUS

Neurosurgery ◽  
2008 ◽  
Vol 62 (suppl_2) ◽  
pp. SHC633-SHC642 ◽  
Author(s):  
James M. Drake
Keyword(s):  
Surgical Management ◽  
Computer Models ◽  
Future Directions ◽  
Complex Disorders ◽  
Computed Tomographic ◽  
Pediatric Hydrocephalus ◽  
Past Generation ◽  
Current State ◽  
Technological Advances ◽  
Hydrocephalus Treatment

Abstract THE SURGICAL MANAGEMENT of hydrocephalus has undergone incredible changes over the past generation of neurosurgeons, including dramatic improvements in imaging, especially computed tomographic scanning and magnetic resonance imaging, and remarkably innovative advances in cerebrospinal fluid valve technology, complex computer models, and endoscopic equipment and techniques. In terms of overall patient outcomes, however, one could conclude that things are a little better, but “not much.” This frustrating yet fascinating dichotomy between technological advancements and clinical outcomes makes hydrocephalus, first described by the ancients, as one of the most understated and complex disorders that neurosurgeons treat. The challenge to the next generation of neurosurgeons is to solve this vexing problem through better understanding of the basic science, improved computer models, additional technological advances, and, most importantly, a broad-based, concerted multidisciplinary attack on this disorder. This review focuses on the evolution of surgery for hydrocephalus over the last 30 years, the current state of the art of hydrocephalus treatment, and what appear to be the most promising future directions.

Sex chromosomes-linked single-gene disorders involved in human infertility

2019 ◽  
Vol 62 (9) ◽  
pp. 103560
Author(s):  
Ines Jedidi ◽  
Mouna Ouchari ◽  
Qinan Yin
Keyword(s):  
Sex Chromosomes ◽  
Single Gene ◽  
Single Gene Disorders
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