HUMAN DISORDERS OF COPPER METABOLISM: RECENT ADVANCES AND MAIN CHALLENGES

Johns Hopkins University, Baltimore MD

Investigators

Abstract

DESCRIPTION (provided by applicant): Copper is an essential element that is necessary for the development of central nervous system, normal heart and liver functions, angiogenesis, immune response and many other physiologic processes. Copper deficiency is associated with cardiac hypertrophy, morphologic and functional pathologies in the brain, whereas excess copper disrupts organ function resulting in liver and kidney damage and neurologic impairment. Recent progress in disease diagnoses has significantly expanded the spectrum of disorders associated with abnormalities of copper metabolism. As a result, the need for beter mechanistic understanding of human copper metabolism in health and disease has greatly increased. This workshop would be the first meeting to specifically focus on the spectrum of human disorders associated with abnormalities of copper metabolism and the mechanisms behind copper-dependent pathologies. The issues related to diagnoses and treatment of copper-related disorders will be identified to guide mechanistic studies. Clinical, Basic Science and Patients perspective wil be presented at the meeting; the outcomes/conclusions of the workshop will be disseminated to all three groups.