🔬 Human Genetics Researcher - Passionate about unraveling the mysteries of genetics and contributing to advancements in medical science.

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• Location: [BIH Charité – Universitätsmedizin Berlin, Berlin, Germany]

I was born in a small Romanian town. My mother is a Transylvanian Saxon, and my father is Romanian. Nature, genetics, and the evolution of DNA, a thread that connects all life on Earth, have always captivated me. My interest in technology and computers began in the late 1990s with a family-owned computer, where I learned to code in Basic. During my medical studies, I discovered the field of human genetics, which provided a way to combine these interests. My journey in this field has been marked by pivotal moments, like securing my first DFG project, being honored with the "GfH-Promotionspreis" 2017, and the SYNLAB-award at EuroDysmorpho 2019, each milestone propelling me further into the exploration of genetic landscapes and bioinformatics.

• Currently working at BIH Charité Berlin and LaborBerlin, focusing on rare diseases of neuronal development, rare tumors, and kidney diseases.
• Senior Physician at Charité – Universitätsmedizin Berlin, Translational Research Area - Research Group "Hypertension and Molecular Biology of Endocrine Tumors" since 07/2022.
• Previously Senior Physician and Head of the Genetics Outpatient Clinic at MVZ Dresden.
• Specialist in Human Genetics at the Institute of Human Genetics, University of Leipzig Medical Center, and Deputy Team Leader Genetic Diagnostics - Clinical Genomics.
• DFG Rotation Position at the Human Genetics Institute of the University Hospital Leipzig, working on the project "Exome Pool-Seq and systems biology approach to identify and characterize genes and networks in neurodevelopmental disorders".
• Previously Resident and scientific-medical assistant at the Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

Nature, science, and technology also play a big role in my personal life. I enjoy freediving, scuba diving, being in nature and I am a passionate photographer. Most recent hobby is finding fossil shark teeth around the world.

I love traveling and experiencing new things, trying to involve in local communities, cultures and citizen science.

Favorite animals: sharks 🦈, whales 🐋, and turtles 🐢.

Photographing a baby humpback whale in Moorea, French Polynesia.

Checking a nest of loggerhead sea turtles (Caretta caretta) for signs of hatchlings on the island of Kefalonia in Greece.

Very happy after finding my first Megalodon tooth in Gainsville, Florida.

• Spearheaded SysNDD, a robust platform for analyzing gene-disease relationships in neurodevelopmental disorders (NDD).
• Established MorbidGenes, providing a monthly updated list of diagnostically relevant genes to advance genetic diagnostics.
• Developed HNF1B-db, a dedicated database for HNF1B variant annotations.
• Contributed to AutoCaSc, an automated variant curation system, showcased in a recent publication in Human Mutation.
• Involved in Kidney-Genetics, a project dedicated to understanding the genetic underpinnings of kidney diseases, with comprehensive documentation.

• Languages: R, SQL, Bash, Python, JavaScript, HTML, CSS
• Technologies: Docker, GitHub, Nextflow, SnakeMake

• Dissertation Dr. med. at the Institute of Human Genetics, University Hospital Erlangen, Title: "De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females" (summa cum laude), 11/2015 - 02/2013.
• License as a physician after completing medical studies at the FAU Erlangen-Nuremberg, 11/2012.

• 📧 bernt.popp[at]charite.de | bernt.popp.md[at]gmail.com

Disclaimer: Any opinions expressed here are solely my own and do not reflect the views of my employer, funders, or their affiliates.