First hand: Jillian Casey

摘要

Jillian Casey had a pretty good start to her PhD. Her first task at University College Dublin in 2008 was to analyse DNA from a family where many members had a rare condition that affected eye development. "The family had been waiting for nine years for a genetic diagnosis," she says. Previous work had excluded all the genes known to cause this disorder and suggested that the family had a new genetic variant, but the gene and its mutation remained a mystery. But using the latest SNP arrays -which can be used to search for differences between whole genomes-Casey was able to quickly compare DNA from healthy and affected family members. Within a week she had narrowed the search to a segment containing a handful of genes. "Eight weeks later, using next generation sequencing, we had the actual mutation," she recalls. "And with that I saw how these new technologies could make it much faster to find these rare disease genes." Since then, Casey has helped to isolate specific mutations in several other rare diseases, particularly diseases that affect children.