Identification of new genes that cause Disorders/Differences of Sex Development

Summary This project will use genomic technologies such as Whole Exome Sequencing and targeted microarrays to find novel candidate genes that may cause DSDs. In this project, you will analyse DSD patient sequencing data for potential pathogenic gene variants in an effort to identify novel candidate genes.

Project Details

Often the first question asked when a child is born is "is it a boy or a girl". Unfortunately, a definitive answer cannot be given to the parents of a child born with severe ambiguous genitalia. These cases occur with a frequency of 1 in 4500 births and are part of a large spectrum of disorders known as Disorders/Differences of Sex Development (DSD), which are caused by mutations in the genes that regulate how the testis or ovaries develop and function. Yet, less than 50% of patients with DSD currently receive a clinical genetic diagnosis, due to a poor understanding of the genes that can cause DSDs. This project will use genomic technologies such as Whole Exome Sequencing and targeted microarrays to find novel candidate genes that may cause DSDs. In this project, you will analyse DSD patient sequencing data for potential pathogenic gene variants in an effort to identify novel candidate genes. These genes will then be validated using lab technologies such as immunofluorescence staining on embryonic gonads and qRT-PCR. This work will uncover novel genes that contribute to DSD in humans and improve diagnosis rates for patients with these difficult disorders.