Medical Field: Gastroenterology
Award: Finalist
Country: Austria
Year: 2021
Research Work: MRI-Based Iron Phenotyping and Patient Selection for Next-Generation Sequencing of Non-Homeostatic Iron Regulator Hemochromatosis Genes
Published in: Hepatology


I believe that genetics is the future of medicine in many ways.


One finalist from Austria is André Viveiros, MD, PhD, who is recognized for his research in the field of Gastroenterology. He is currently working at the Medical University of Innsbruck. He was absolutely thrilled when he learned of the nomination and says it is a great honour for him and his team to have their research receive this kind of recognition.

In his research, André Viveiros, MD, PhD, focuses on metabolic and genetic liver diseases. He believes that a link between gastroenterology and laboratory medicine is necessary for the best results. Therefore, he is now doing a second residency in laboratory medicine to complement his residency in internal medicine and gastroenterology/hepatology. His research focused on hemochromatosis, one of the most common genetic disorders in Caucasians. André Viveiros describes the original idea:

Ferritin is an intracellular protein that stores iron and releases it in a controlled manner. A high level of ferritin in the blood is an indicator of the iron storage disease hemochromatosis. Excess iron is stored in almost all organs, especially the liver, heart, and pancreas. Too much iron can lead to life-threatening conditions such as liver disease, heart problems and diabetes. A simple genetic test can diagnose a high percentage of patients. However, in the case of a negative genetic test, additional tools are needed to diagnose and provide appropriate treatment.

In their study, André Viveiros and his team analysed a real-life 10-year cohort of patients with high serum ferritin and reported for the first time on a larger scale the results of non-invasive iron quantification and the distribution pattern in the abdominal organs by magnetic resonance imaging (MRI). They demonstrated that patient selection based on high iron in the liver but low iron in the spleen can improve the pre-test likelihood of identifying pathogenic variants in next-generation sequencing (NGS), a more extensive and costly type of genetic testing. Performing these tests on a broad scale allowed them to visualise the genetic complexity of hemochromatosis and shed light on the diagnosis of this iron storage disease.

This is the first real-world cohort study to report the results of non-invasive quantification of liver and spleen iron content using MRI, and to guide subsequent complex genetic testing using next-generation sequencing (NGS).

In his free time, André Viveiros enjoys spending time with his family and friends. He loves to travel and play sports, especially swimming.