PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 11237009

Human disease genes.

G Jimenez-Sanchez·B Childs·D Valle
View original source ↗Export metadata ↓

Abstract

The complete human genome sequence will facilitate the identification of all genes that contribute to disease. We propose that the functional classification of disease genes and their products will reveal general principles of human disease. We have determined functional categories for nearly 1,000 documented disease genes, and found striking correlations between the function of the gene product and features of disease, such as age of onset and mode of inheritance. As knowledge of disease genes grows, including those contributing to complex traits, more sophisticated analyses will be possible; their results will yield a deeper understanding of disease and an enhanced integration of medicine with biology.

Explore related subjects

DiseaseGenesGenetic Diseases, InbornHuman Genome ProjectHumansJournal ArticleResearch Support, Non-U.S. Gov't

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

G Jimenez-Sanchez, B Childs, D Valle. 2001-02-15. Human disease genes.. https://doi.org/10.1038/35057050

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2006

The origin of individual differences in the course and severity of diseases.

Any disease manifests itself individually either by a bright or restricted spectrum of clinical signs and resultant clinical courses that range from asymptomatic to deadly, from acute to chronic, etc. Until recently, the origin of this kind of biodiversity was poorly investigated and understood, but advances in immunology--especially in identifying constitutional (genetic) mechanisms of immunity--have contributed to our understanding of the origin of individual diversity in diseases. Any disease destroys only focal areas in the affected organisms, and the amounts, sizes, and distribution of such focal lesions vary from patient to patient. In a population predilected to a relevant pathogenic agent, individuals can be conveniently divided into three categories: totally resistant organisms that contain no susceptible structures and are not affected; mildly susceptible organisms in which a few foci appear and in which the disease runs a benign course; organisms in which the number of constitutionally susceptible structures is high and the disease develops in a severe form. The diversity is formed by the mating of genetically different parents that determines the differences in susceptibility of genetically various parts of the descendant organism.

Disease↗
PubMed2006

The conceptualisation of health and disease in veterinary medicine.

BACKGROUND: The concept of health, as well as the concept of disease, is central in veterinary medicine. However, the definitions "health" and "disease" are not generally acknowledged by veterinarians. The aim of this study was to examine how the concepts "health" and "disease" are defined in veterinary textbooks. METHODS: Veterinary textbooks in several disciplines were investigated, but only textbooks with explicit definitions of the concepts were selected for examination. RESULTS: Eighty out of the 500 relevant books within veterinary medicine were written for non-veterinarians. Eight percent of the books had an explicit definition of health and/or disease. More frequently, textbooks written for non veterinarians did have definitions of health or disease, compared to textbooks written for professionals. A division of health definitions in five different categories was suggested, namely: 1. Health as normality, 2. Health as biological function, 3. Health as homeostasis, 4. Health as physical and psychological well-being and 5. Health as productivity including reproduction. CONCLUSION: Few veterinary textbooks had any health or disease definition at all. Furthermore, explicit definitions of health stated by the authors seemed to have little impact on how health and disease are handled within the profession. Veterinary medicine would probably gain from theoretical discussions about health and disease.

Disease↗