Professor Márta Korbonits gave the Lady Estelle Wolfson lecture in translational medicine at the Royal College of Physicians on the 24th October 2018 during the Acute and General Medicine Conference.
29 October 2018
Professor Korbonits's talk entitled “Legends, genetics and molecular biology” concentrated on conditions associated with growth hormone excess starting in childhood and producing pituitary gigantism.
She started her lecture by reviewing the medical and social history of this condition, adding elements of historical legends about patients up to the present time when genetic alterations have been discovered resulting in this disease. She then discussed how questions posed by clinical observations have led to scientific questions in the laboratory. Answering these questions using cells or model animals, such as knockout mice with disrupted gene specifically directed to the pituitary gland, or using fruit flies to model genetic variants identified in humans, have provided evidence about the pathogenicity of the genetic variants. The results have allowed clinicians to give appropriate genetic advice to patients and their families.
Professor Korbonits also explained how clinical suspicion can ultimately lead to the correct diagnosis with help from laboratory experiments, despite the sometimes negative initial clinical test results. She emphasized the importance of public engagement and showed how her research was enriched by a study developed together with patients. She completed her talk linking long-standing folktales and observation of people with extreme tall stature from Ireland to a genetic variant causing the disease over the last 2.5 thousand years.
Márta Korbonits is Professor of Endocrinology and Deputy Director at the William Harvey Research Institute.