Population Genomics: Laying the Groundwork for Genetic Disease Modeling and Targeting
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Jeff Gulcher
Abstract
The family has proven the most appropriate unit with which to study Mendelian diseases. There are, however, certain limitations on the use of the family as a fundamental unit in the study of common diseases, most of which are complex genetic diseases. The groups that are most likely to yield the genetics of complex diseases are isolated populations with strong founder effects. Therefore, access to such populations is proving to be a precious resource in the work on the genetics of common diseases. The Icelandic population is an excellent population for the study of the genetics of common diseases; it is genetically homogeneous, with founder effects for many traits, and the genealogy of the entire nation is well documented back to the founding days. Furthermore, the nature of the Icelandic national health care system facilitates the assignment of phenotypes in the search for disease genes.
Decode Genetics has begun to study of the genetics of 20 of the most common diseases in the Western parts of the world. The company has placed the groundwork for the construction of an encrypted database with information on the health care of the entire nation, genealogy of the entire nation, genotyping information with high density of markers on a large part of the nation (including typing for known disease genes), and resource use in the Icelandic health care system. The plan is to build the database with approval of participating individuals as well as Icelandic government and health care officials. The database will be used to model health care as viewed in the context of genetic predisposition to the development of disease. The database will also be used in the search for drug targets in complex diseases and in the solution of pharmacogenomic problems. Basing the company in Iceland directly benefits the population in terms of employment and return on investment as well as providing the health care system with an information resource which may be used in preventive medicine and in the optimization of health care in Iceland.
Copyright © 1999 by Walter de Gruyter GmbH & Co. KG
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Articles in the same Issue
- Human Genomics: The Basis of the Medicine of Tomorrow. Recent Progress in Molecular Biology Technology. First IFCC-Roche Conference – Singapore, 15–18 March 1998
- Does Clinical Chemistry Have a Future?
- The Human Genome Project: From Mapping to Sequencing
- The Human Genome Project and the Role of Genetics in Health Care
- Mutation Detection and Mutation Databases
- Population Genomics: Laying the Groundwork for Genetic Disease Modeling and Targeting
- Oligonucleotide-Based Gene Therapy for Cardiovascular Disease
- Signal Transduction Pathways and Modulation of Gene Activity
- Do Overexpressed Oncoproteins Cause Malignant Growth of Cancer Cells? – Studied by Antisense Oligonucleotides
- Ethical and Legal Issues in the Procurement, Storage and Use of DNA
- DNA Extraction and Stability for Epidemiological Studies
- Simple and Broadly Applicable Sample Preparation by Use of Magnetic Glass Particles
- A Multilocus Genotyping Assay for Cardiovascular Disease
- Optimized Non-Radioactive Protein Truncation Test for Mutation Analysis of the Adenomatous Polyposis Coli (APC) Gene
- Monitoring of Inhibitors of Enzymatic Amplification in Polymerase Chain Reaction and Evaluation of Efficacy of RNA Extraction for the Detection of Hepatitis C Virus Using the Internal Control
- Quantification of Relative Expression of Genes with Homologous Sequences Using Fluorescence-Based Single-Strand Conformation Polymorphism Analysis – Application to Lactate Dehydrogenase and Cyclooxygenase Isozymes
- Automation of Polymerase Chain Reaction-Based Systems for Detection of Hepatitis C Virus RNA
- A Simple PCR with Different 3′ Ends of the Third Primer for Detection of Defined Point Mutations: HCV Genotyping as an Example
- Two Quantitative Methods for Imaging Samples in Molecular Biology
- Restriction Digest PCR (RD-PCR) for the Analysis of Gene Mutations. Application to Ki-ras
- Direct Detection of Mycobacterium tuberculosis in Respiratory Specimens Using an Automated DNA Amplification Assay and a Single Tube Nested Polymerase Chain Reaction (PCR)
- Quantitative Detection of Hepatitis B Virus DNA with a New PCR Assay
- Molecular Diagnostics for Cardiovascular Disease
- Association of Apolipoprotein E Polymorphism and Concentration with Serum Lipids and Apo-lipoprotein Level in the Chinese fromShanghai
- Angiotensin Converting Enzyme Gene Polymorphism in Coronary Artery Disease: The Indian Scenario
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- Cholesteryl Ester Transfer Protein Mutations, Protein Activity and HDL-Cholesterol Concentration
- Molecular Biology of Alcohol Dependence, a Complex Polygenic Disorder
- Analysis of Clonality in T-Lymphoproliferative Diseases by Multiplex PCR
- The Impact of Molecular Diagnosis on Familial Colorectal Cancer
- Screening for Tumour Suppressor p16(CDKN2A) Germline Mutations in Israeli Melanoma Families
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