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Understanding and Treating Birt-Hogg-Dubé Syndrome

Understanding and Treating Birt-Hogg-Dubé Syndrome

Host: Bruce Bloom, DDS, JD

Guest: Eamonn R. Maher, MD

Guest: John Solly, PhD

Skin lesions, pneumothorax and kidney tumors? Is it Birt-Hogg-Dubé Syndrome? Described in the late 1970s, Birt-Hogg-Dubé was very difficult to recognize until recent molecular genetic testing made the diagnosis of this orphan disease more accurate. What is this disease? What systems does it affect? How do we treat it and what is the hope for the future? Join host Dr. Bruce Bloom and his guests Dr. Eamonn Maher, professor of medical genetics and department head of medical and molecular genetics at the University of Birmingham in the UK, and John Solly, director of the Myrovlytis Trust, a UK charity dedicated to the promotion of research into rare genetic disorders.