#15 Headlining Rare Disease Diagnostics with Katrin Õunap

Beyond BAFF

Katrin Õunap is a leading Estonian clinical geneticist specializing in rare diseases and
metabolic disorders.
In this episode Katrin delves into her journey into genetics, starting with her early career and unexpected shift into genetics after Estonia's independence from the Soviet Union. She recounts her pivotal role in introducing newborn screening for phenylketonuria (PKU) in Estonia, emphasizing the collaboration and learning experiences that shaped her path.
The discussion covers Katrin's research in Estonia and abroad, including her significant work in the U.S. with the Center of Mendelian Genomics at Harvard University, aiming to solve unsolved genetic disease cases.
Today Katrin is a professor in Clinical Genetics at the Institute of Clinical Medicine, at the University of Tartu. She is also the Head of the Department of Clinical Genetics, at Tartu University Hospital.
At the podcast we talk about:

• Navigating the complex world of rare diseases
• The definition of a “rare disease”?
• The importance of international cooperation?
• How did Katrin evolve from a pediatrician to a researcher and a genetics specialist?
• What lies ahead for Katrin regarding future projects and European collaborations?
• How did phenylketonuria research got it’s start in Estonia thanks to Katrin?

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