*This month in partnership with Choroideremia Research Foundation*
Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls.
This month, we are featuring choroideremia (CHM). CHM is an X-linked disorder caused by mutations in the gene, CHM, which produces a protein that plays a critical role in the cell’s ability to transport proteins and organelles within and outside of the cell. When this gene is dysfunctional, the cell can no longer support this protein escort ability, resulting in premature cell death primarily in the eyes. Typically, this condition is characterized by progressive vision loss. These symptoms may begin at any age, but tend to onset between childhood and adulthood. Females carriers of CHM have been proven to experience a spectrum of symptoms, ranging from mild to severe retinal degeneration.
Today, we are featuring Dr. Sena Gocuk. Dr. Gocuk is an optometrist and postdoctoral research fellow specialising in inherited retinal diseases (IRD), with a particular focus on female carriers of X-linked IRDs. Her research explores the unique challenges female carriers face, from variability in disease expression to their underrepresentation in clinical trials. Dr. Gocuk has led innovative studies investigating retinal changes in female carriers, providing insights into emerging treatments such as gene therapy. She is an advocate for the inclusion of female carriers in research and treatment interventions, regularly sharing her findings to promote better care and access for this often-overlooked population.
RESOURCES:
Carrier Connections is sponsored by Kyowa Kirin and Amgen.
For more information about our organization, check out rememberthegirls.org.
