|Statement||Jürgen Drews, Stefan Ryser (editors) ; editorial committee, Eckart Gwinner, Rolf O. Studer.|
|Series||Ex Libris "Roche" -- v. 9|
|Contributions||Drews, Jürgen, 1933-, Gwinner, Eckart., Ryser, Stefan., Studer, Rolf O., F. Hoffmann-La Roche & Co.|
|LC Classifications||RB155.5 .S88 1997|
|The Physical Object|
|Pagination||ix, 160 p. :|
|Number of Pages||160|
Add tags for "Human disease - from genetic causes to biochemical effects: proceedings of the symposium "The genetic basis of human disease" held to celebrate the th anniversary of the founding of F. Hoffamnn-La Roche Ltd, October , , Basel". Be the first. Although there are many possible causes of human disease, family history is often one of the strongest risk factors for common disease complexes such as cancer, cardiovascular disease (CVD), diabetes, autoimmune disorders, and psychiatric illnesses. A person inherits a complete set of genes from each parent, as well as a vast array of cultural and socioeconomic experiences from his/her by: Almost every human trait and disease has a genetic component, whether inherited or influenced by behavioral factors such as exercise. Genetic components can also modify the body’s response to environmental factors such as toxins. Understanding the underlying concepts of human genetics and the role of genes, behavior, and the environment is important for appropriately collecting and applying. Cardiovascular disease (CVD) is the leading cause of mortality and morbidity in modern societies and encompasses a range of human pathology. It is highly suspected that CVD is strongly related to genetic and environmental factors, and studies have demonstrated that there is an interaction between genetic and environment factors that can lead to.
Genetics is a fast-changing landscape, and its application has extended to several fields in medicine, including the practice of human reproduction and infertility. This chapter introduces readers to the field and profession of genetic counseling, providing evidence to support the integration of genetic counseling in human reproduction practice. Patient G.G. 46 yo caucasian male 1 ppd cigarette smoker from age 15 to 43 Increasing SOB for 2 years Bronchitis x 2, pneumonia PFTs: obstructive lung disease (FEV1 30% predicted) with hyperinflation Alpha-1 antitrypsin Alpha-1 antitrypsin--smoking Biochemical and Molecular Genetics of Human Disease I Monogenic disorders Garrod’s Inborn. A second reason for studying human genetics is its practical value for human welfare. In this sense, human genetics is more an applied science than a fundamental science. One benefit of studying human genetic variation is the discovery and description of the genetic contribution to many human diseases. Studies have demonstrated remarkable genetic diversity among humans. No two individuals on this planet are alike genetically, except for identical twins, and even they vary because of somatic mutations in the immune system. The well-known individual uniqueness of physiognomic features extends to a variety of genetically determined biochemical and immunologic characteristics.
Tay-sachs disease results in a deficiency of hexosaminidase A that causes severe mental and physical deterioration beginning in infancy. Sickle cell disease is a red blood cell defect. -Oculocutaneous albinism causes hypopigmentation of skin, hair, eyes as a result of the body's inability to synthesize melanin. Genetics of Complex Human Diseases: A Laboratory Manual brings together the tools that geneticists use to find disease genes with the genetic concepts and statistical theories that underpin these research approaches. Topics covered include basic genetics and Mendelian inheritance, statistical methods, genetic epidemiology, linkage studies Price: $ This article gives the reader an insight into the role of biochemistry in some of the current global health and disease problems. It surveys the biochemical causes of disease in an accessible and succinct form while also bringing in aspects of pharmacology, cell biology, pathology and physiology which are closely aligned with biochemistry. The discussion of the selected diseases highlights Cited by: 4. A genetic disease is any disease caused by an abnormality in the genetic makeup of an individual. The genetic abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes.