The Impact of the Human Genome Project on Complex Disease
In the decade that has passed since the initial release of the Human Genome, numerous advancements in science and technology within and beyond genetics and genomics have been encouraged and enhanced by the availability of this vast and remarkable data resource. Progress in understanding three common...
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doaj-a470dcf4511545d09e6f3fce9d357f472020-11-24T23:58:53ZengMDPI AGGenes2073-44252014-07-015351853510.3390/genes5030518genes5030518The Impact of the Human Genome Project on Complex DiseaseJessica N. Cooke Bailey0Margaret A. Pericak-Vance1Jonathan L. Haines2Department of Epidemiology and Biostatistics, Case Western Reserve University Medical Center, Cleveland, OH 44106, USAHussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USADepartment of Epidemiology and Biostatistics, Case Western Reserve University Medical Center, Cleveland, OH 44106, USAIn the decade that has passed since the initial release of the Human Genome, numerous advancements in science and technology within and beyond genetics and genomics have been encouraged and enhanced by the availability of this vast and remarkable data resource. Progress in understanding three common, complex diseases: age-related macular degeneration (AMD), Alzheimer’s disease (AD), and multiple sclerosis (MS), are three exemplars of the incredible impact on the elucidation of the genetic architecture of disease. The approaches used in these diseases have been successfully applied to numerous other complex diseases. For example, the heritability of AMD was confirmed upon the release of the first genome-wide association study (GWAS) along with confirmatory reports that supported the findings of that state-of-the art method, thus setting the foundation for future GWAS in other heritable diseases. Following this seminal discovery and applying it to other diseases including AD and MS, the genetic knowledge of AD expanded far beyond the well-known APOE locus and now includes more than 20 loci. MS genetics saw a similar increase beyond the HLA loci and now has more than 100 known risk loci. Ongoing and future efforts will seek to define the remaining heritability of these diseases; the next decade could very well hold the key to attaining this goal.http://www.mdpi.com/2073-4425/5/3/518human genome projectage-related macular degenerationAlzheimer’s diseasemultiple sclerosisgeneticsgenomicsgenome-wide association study |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jessica N. Cooke Bailey Margaret A. Pericak-Vance Jonathan L. Haines |
spellingShingle |
Jessica N. Cooke Bailey Margaret A. Pericak-Vance Jonathan L. Haines The Impact of the Human Genome Project on Complex Disease Genes human genome project age-related macular degeneration Alzheimer’s disease multiple sclerosis genetics genomics genome-wide association study |
author_facet |
Jessica N. Cooke Bailey Margaret A. Pericak-Vance Jonathan L. Haines |
author_sort |
Jessica N. Cooke Bailey |
title |
The Impact of the Human Genome Project on Complex Disease |
title_short |
The Impact of the Human Genome Project on Complex Disease |
title_full |
The Impact of the Human Genome Project on Complex Disease |
title_fullStr |
The Impact of the Human Genome Project on Complex Disease |
title_full_unstemmed |
The Impact of the Human Genome Project on Complex Disease |
title_sort |
impact of the human genome project on complex disease |
publisher |
MDPI AG |
series |
Genes |
issn |
2073-4425 |
publishDate |
2014-07-01 |
description |
In the decade that has passed since the initial release of the Human Genome, numerous advancements in science and technology within and beyond genetics and genomics have been encouraged and enhanced by the availability of this vast and remarkable data resource. Progress in understanding three common, complex diseases: age-related macular degeneration (AMD), Alzheimer’s disease (AD), and multiple sclerosis (MS), are three exemplars of the incredible impact on the elucidation of the genetic architecture of disease. The approaches used in these diseases have been successfully applied to numerous other complex diseases. For example, the heritability of AMD was confirmed upon the release of the first genome-wide association study (GWAS) along with confirmatory reports that supported the findings of that state-of-the art method, thus setting the foundation for future GWAS in other heritable diseases. Following this seminal discovery and applying it to other diseases including AD and MS, the genetic knowledge of AD expanded far beyond the well-known APOE locus and now includes more than 20 loci. MS genetics saw a similar increase beyond the HLA loci and now has more than 100 known risk loci. Ongoing and future efforts will seek to define the remaining heritability of these diseases; the next decade could very well hold the key to attaining this goal. |
topic |
human genome project age-related macular degeneration Alzheimer’s disease multiple sclerosis genetics genomics genome-wide association study |
url |
http://www.mdpi.com/2073-4425/5/3/518 |
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