Women face nearly double the risk of developing Alzheimer’s disease compared to men. While researchers have long looked at the human genome to find answers, one specific area remains largely unmapped. A new study from the University of Miami Miller School of Medicine aims to change that by investigating the role of the X chromosome in disease risk.
Most large-scale genetic studies exclude the X chromosome because its biology is complex. Women carry two X chromosomes while men carry one. To keep gene activity balanced, one X chromosome is usually turned off, but some genes manage to escape this process. Researchers suspect these variations contribute to the biological differences seen between male and female patients.
Supported by the National Institute on Aging, the research team will analyze genetic and epigenetic data from diverse populations. They are looking for specific variations on the X chromosome that correlate with Alzheimer’s development. The team is also studying DNA methylation, which serves as a switch to turn genes on or off as people age.
This project seeks to identify new biological pathways that have been ignored in previous research. By combining genetic and molecular data, the team expects to find new targets for medical therapies. Their work will provide resources for the scientific community and push the field of precision medicine forward, helping doctors tailor treatments to a patient's biological profile.
Understanding these mechanisms is a priority as the number of people living with dementia continues to grow. Finding the hidden drivers of this disease could lead to better prediction tools and improved care options for patients.

