#15 - Headlining Rare Disease Diagnostics with Katrin Õunap
Katrin Ounap is an Estonian researcher focusing on clinical genetics and rare diseases. She investigates the genetic causes in Estonian children with unclear diagnoses. Her main clinical interest has been metabolic diseases. She has consulted and treated many patients with genetic syndromes and chromosomal diseases too.
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
In the podcast, we talk about:
Navigating the complex world of rare diseases
The definition of a “rare disease”
The importance of international cooperation
How Katrin evolved from a pediatrician to a researcher and a genetics specialist
What lies ahead for Katrin regarding future projects and European collaborations
How phenylketonuria research got its start in Estonia thanks to Katrin
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