While we’re learning more with every new family, there is still a lot left to learn. If you are a parent or family member of someone with DHPS gene mutations, or if you are a clinician or researcher working with a patient with this condition, we would love to learn from you. We believe that families, clinicians, and researchers all working together and sharing our experiences, will benefit everyone.
We are working to understand through studies what the gene change does to the developing brain and how it affects behavior and brain function. Ultimately, we will test potential treatments in cellular and animal models of the condition and hopefully someday treat people with this condition.