The Institute's research and clinical training on the topic of Menkes disease are conducted primarily by researchers in the Unit on Human Copper Metabolism within the Division of Intramural Research (DIR) Molecular Medicine Program. Their work includes, but is not limited to:
Through programs of the DIR's Section on Developmental Genomics, the NICHD also supports training for clinicians so they are better prepared to diagnose and treat genetic disorders, and provides comprehensive evaluations and care for patients with suspected or diagnosed genetic conditions.
The Unit on Human Copper Metabolism also established and maintains the Menkes Disease and Occipital Horn Syndrome International Registry. The purpose of this international registry is to gather information about these conditions and to support the care of patients and families around the world who are impacted by them. The registry also is becoming a resource for researchers studying diagnosis and treatment.
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