Work

What fruit flies can tell us about human birth defects.

Year: 2013

Type: article

Abstract: Many times, when a human genetic disease is mapped to mutations in a specific gene, little is known about the biological functions of the affected gene. Development of new therapeutic methods is facilitated by understanding the gene's biological roles. Such information can often be obtained in animal models, such as the fruit fly. Here we describe how understanding a gene's function in fruit flies has illuminated the etiology of Cornelia de Lange syndrome.

Source: Europe PMC (PubMed Central)

Author: Dale Dorsett

Institution: Saint Louis University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institute of General Medical Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: NIPBL, Cohesin and Related Structural Birth Defects, An Animal Model for Cornelia de Lange Syndrome