Chemical genetics

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article about the chemical genetics and orphan genetic diseases (Chem Biol. 2005 Oct;12(10):1063-73). Authors are Lunn MR and Stockwell BR from the Department of Biological Sciences, Sherman Fairchild Center for the Life Sciences, Columbia University, New York, USA. Human genetics has become increasingly effective at identifying genetic defects underlying rare genetic diseases, but little progress has been made toward understanding the causal molecular pathologies and creating targeted therapies. Chemical genetics, positioned at the interface of chemistry and genetics, can be used for elucidation of molecular mechanisms underlying diseases and for drug discovery. This review discusses recent advances in chemical genetics. The authors focus here on a case study involving spinal muscular atrophy, a pediatric neurodegenerative disease caused by homozygous deletion of the SMN1 gene. To access the full abstract of the article, click here.