Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.
This month, we are featuring X-linked ichthyosis (XLI). XLI is a rare X-linked condition caused by a deficiency in the enzyme steroid sulfatase which, under normal conditions, functions to maintain the integrity of the skin. In individuals with X-linked ichthyosis, this protein’s normal function is interrupted, causing cholesterol to accumulate and the shedding of dead skin cells to be prevented.
Previous work into the condition, led by Dr. William Davies and colleagues, has shown that individuals with XLI are substantially more likely than non-affected individuals to present with developmental disorders, such as Attention Deficit Hyperactivity Disorder (ADHD) and autism.
Today, we are joined by Dr. William Davies! Dr. Davies is interested in the (epi)genetic mechanisms underlying sex differences in brain function and behavior. His work focusses on the role of genes on the sex chromosomes (i.e. the X and Y), which are asymmetrically inherited between the sexes. A principal aim of his research is to elucidate why the sexes are differentially vulnerable to common and disabling disorders such as autism and ADHD, and ultimately to help develop more effective sex-specific therapies.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
