NICHD researchers are working to advance understanding of the role of copper transport abnormalities in Menkes disease and related conditions.
The institute's research is aimed at identifying the specific genetic causes of Menkes disease and other copper transport diseases, understanding how the responsible genes participate in neurologic processes, and dissecting disease mechanisms. The studies utilize model organisms (e.g., yeast, mouse); cellular, biochemical, and biophysical approaches; and human trials.
Researchers are focused on identifying and characterizing underappreciated cellular and genetic phenomena suggested by patients' phenotypes or their responses to treatment as well as on using animal models to test novel therapeutic approaches.
In addition, NICHD research aims to develop reliable and cost-effective technologies to detect Menkes as early as possible so critical treatment can be started before symptoms develop. Projects include evaluating existing and creating novel treatments to improve outcomes for those with Menkes and related conditions, with special attention to targeting the treatments to the specific genetic mutation.