STUDIES IN PORPHYRIA VII--TELEMEDICINE IN RARE DISEASES

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Porphyrias are uncommon, complex metabolic diseases due to deficiencies (usually inherited) of enzymes involved in the synthesis of heme. There are few specialists with extensive knowledge and experience in the diagnosis and treatment of porphyrias. Therefore, patients have difficulty obtaining expert advice on their condition. This is a pilot project to assess the applicability of telemedicine with video-teleconferencing to consultation on patients with porphyria or suspected porphyria who are at the distance from UTMB. In the future, an effort will be made to include other rare or "orphan" diseases for which there is particular expertise at UTMB. This project may also facilitate the development and conduct of multicenter studies on rare diseases as a cooperative effort with other GCRC's.