Irruption of genomics in the search for disease related genes

Thomas, G.; Cann, H.
May 2003
Gut;May2003 Supplement 2, Vol. 52, pIi1
Academic Journal
Genomics was initiated when robotics made possible the characterization of large numbers of DNA fragments and when ever improving computers with dedicated software were applied to the localization in the genome of these sequences and to the analysis of their content. By enabling the generation and management of large amounts of DNA based sequences these tools have changed our perception of the genomes of living organisms. These data, as applied to humans, are contributing to the understanding of gene function, disease processes, and evolution of our species. Presently they are changing the research strategies for identifying genetic variations influencing disease susceptibility and response to treatment. These advances will have a profound impact in biomedicine.


Related Articles

  • Medical genomics. van Ommen, Gert-Jan B // European Journal of Human Genetics;Oct2001, Vol. 9 Issue 10, p729 

    Editorial. Discusses the growth of the medical genomics field. Introduction of paradigms into the interface of geneticists; Introduction of medical genomics into the medical curriculum.

  • Applications of DNA chips for genomic analysis. Hacia, J.G.; Brody, L.C.; Collins, F.S. // Molecular Psychiatry;1998, Vol. 3 Issue 6, p483 

    A major frontier in medical genetics is the definition of the molecular basis of multifactorial diseases. This is especially relevant in the field of clinical psychiatry where the majority of common disorders display complex inheritance patterns, and are further influenced by environmental...

  • Estonian parliament considers genome law. Lähteenmaki, Riku // Nature Biotechnology;Nov2000, Vol. 18 Issue 11, p1135 

    Reports on the possibility of passage of human genome law by Estonia's government to win public support for the Estonian Genome Project by ensuring that genetic information cannot be misused. Estimated cost of the project; Study of genes involved in diseases prevalent in Europe; Role of...

  • France gives go-ahead for genomics centre on complex diseases.  // Nature;9/4/1997, Vol. 389 Issue 6646, p10 

    Reports that as of September 4, 1997, the French government is believed to have approved plans to create a national center for genotyping complex diseases. Details of center's budget; Center to be headed by Mark Lathrop; Purpose of center to study the genetics of diseases; Effort by France to...

  • Identifying disease alleles by genome sharing. Chakravarti, Aravinda // Nature Genetics;Nov99 Supplement, Vol. 23, p25 

    Presents an abstract for the article on the identification of disease alleles by genome sharing.

  • GENOMANIA AND HEALTH. Hubbard, Ruth // American Scientist;Jan/Feb95, Vol. 83 Issue 1, p8 

    Presents views on the genetic aspect of diseases. Use of genome sequences in predicting diseases; Information on the consequences of genetic predictions of diseases; Background of the Human Genome Project.

  • Primer on Medical Genomics Part VIII: Essentials of Medical Genetics for the Practicing Physician. Ensenauer, Regina E.; Reinke, Shanda S.; Ackerman, Michael J.; Tester, David J.; Whiteman, David A.H.; Tefferi, Ayalew // Mayo Clinic Proceedings;Jul2003, Vol. 78 Issue 7, p846 

    After the mapping and sequencing of the human genome, medical professionals from essentially all specialties turned their attention to investigating the role genes play in health and disease. Until recently, medical genetics was considered a specialty of minor practical relevance. This view has...

  • Searching for Disease-Susceptibility Loci by Testing for Hardy-Weinberg Disequilibrium in a Gene Bank of Affected Individuals. W-C. Lee // American Journal of Epidemiology;9/1/2003, Vol. 158 Issue 5, p397 

    The future of genetic studies of complex human diseases will rely more and more on the epidemiologic association paradigm. The author proposes to scan the genome for disease-susceptibility gene(s) by testing for deviation from Hardy-Weinberg equilibrium in a gene bank of affected individuals. A...

  • Disease genetics: Reporting on stability. Flintoft, Louisa // Nature Reviews Genetics;Oct2012, Vol. 13 Issue 10, p677 

    The article discusses research being done on disease genetics, which references the study "Rapid profiling of disease alleles using a tunable reporter of protein misfolding," by A. M. Pittman and colleagues and "Needles in stacks of needles: finding disease-causal variants in a wealth of genomic...


Read the Article


Sign out of this library

Other Topics