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Dr. Bonkovsky’s interest in the porphyrias began in medical school and was strengthened during his time studying under porphyria researcher D.P. Tschudy at the National Institutes of Health. Dr. Bonkovsky was among the first to show that hepatic porphyrin and heme synthesis is under the negative feedback regulatory control of heme itself, acting chiefly to down-regulate delta-aminolevulinic acid (ALA) synthase-1, the rate controlling enzyme for heme synthesis. This discovery was the basis for developing heme therapy for acute porphyria attacks, which is still today the treatment of choice for these life-threatening attacks. Dr. Bonkovsky was the first physician-investigator to purify heme and to administer it to a patient with severe acute intermittent porphyria.
Since that time, Dr. Bonkovsky has continued the search for new treatments for the porphyrias, administering clinical trials for potential new therapies at hospitals and medical centers in Massachusetts, Connecticut, and now at the Atrium Health--Wake Forest Baptist Medical Center in Winston-Salem, North Carolina. He is principal investigator of the Porphyria Center of Excellence at Wake Forest/NC Baptist Medical Center, which is a part of the Porphyrias Consortium of the USA, sponsored by the National Institute of Diabetes, digestive and Kidney Diseases and the National Center of Rare Diseases Research.
Dr. Bonkovsky also identified deficiency of ferrochelatase, the final enzyme in the heme synthetic pathway as the fundamental metabolic defect in EPP. Studies on the regulation of hepatic heme metabolism, especially the mechanisms and factors that regulate ALA synthase and heme oxygenase, have been the subject of a large number of studies, both in the basic research laboratory and the clinical research center during the past 50 years.
Dr. Bonkovsky has trained many medical students, residents, and sub-specialty fellows, especially in the fields of internal medicine, gastroenterology, and hepatology, as well as graduate students and junior faculty working on laboratory research.
