Functional genomics and sex development


The development and function of the reproductive system are critically important for the physical and emotional wellbeing of an individual. They are also necessary for reproduction, and the continuation of the species.

Disorders of sex development (DSD) – also known as intersex – are conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. DSD are one of the most common congenital disorders, occurring in up to 1% of newborn babies. Some DSD are diagnosed later in life, affecting around 5-7% of the population. These conditions represent a major paediatric concern and a significant healthcare burden due to difficult clinical management and their common association with gonadal cancer and infertility.

Clinical presentations of DSD are very heterogeneous, including:

  • Complete XX or XY sex reversal (genetic sex not corresponding to the anatomical sex)
  • Gonadal dysgenesis (atypical development of the gonad)
  • Primary ovarian insufficiency (menopause before age 40)
  • Reproductive tract anomalies

One of the major challenges in the diagnosis and management of these conditions is the poor understanding of their causes, both genetic and environmental. This current gap in knowledge is mainly due the lack of translational studies to define the function of the complex network of genes that regulate the formation and differentiation of the gonads and the reproductive tract.

The Functional Genomics and Sex Development group utilizes genome-wide analyses, molecular biology approaches, and gene editing strategies – including CRISPR – to model human conditions.

The goal of our team is to: 1) identify the causes of DSD; 2) define the role of the genes involved in the formation and differentiation of the reproductive system, and 3) understand how genetic makeup and environment interact during sex development.

Read about a project that examines health care for young girls and women with Congenital Uterine Anomalies (CUAs) in Montana, and the results of an ongoing international collaboration regarding struggles with Mullerian anomalies.