Hunting human disease genes: lessons from the past, challenges for the future.

TitleHunting human disease genes: lessons from the past, challenges for the future.
Publication TypeJournal Article
Year of Publication2013
AuthorsBrunham, LR, Hayden, MR
JournalHum Genet
Date Published2013 Jun
KeywordsDisease, DNA Copy Number Variations, Genetic Predisposition to Disease, Genetics, Population, Genome, Human, Humans, Mutation, Phenotype, Sequence Analysis, DNA

The concept that a specific alteration in an individual's DNA can result in disease is central to our notion of molecular medicine. The molecular basis of more than 3,500 Mendelian disorders has now been identified. In contrast, the identification of genes for common disease has been much more challenging. We discuss historical and contemporary approaches to disease gene identification, focusing on novel opportunities such as the use of population extremes and the identification of rare variants. While our ability to sequence DNA has advanced dramatically, assigning function to a given sequence change remains a major challenge, highlighting the need for both bioinformatics and functional approaches to appropriately interpret these data. We review progress in mapping and identifying human disease genes and discuss future challenges and opportunities for the field.

Alternate JournalHum. Genet.
PubMed ID23504071
PubMed Central IDPMC3654184