Prof. Dr. Erwin Böttinger

Dr. Henrike O. Heyne

Senior Scientist for Genomic Medicine

Campus III - Building G2 - Room G-2.2.34

Phone: (+49) 0331 5509 4845
Email: henrike.heyne@hpi.de
Web: LinkedIn | Twitter


I am a senior scientist and medical doctor working with large and small genomic and health datasets to better understand and alleviate disease. Please reach out if you are interested in learning more about my ongoing scientific projects or doing a Master or PhD thesis.

Research Overview

My research aims to help treat patients based on the underlying genetic causes of their disease, with a focus on ion-channel related disease such as epilepsy. As a doctoral student I gained quantitative genetics expertise and programming skills which I used on clinical genetics questions as a postdoctoral researcher. This enabled me to challenge commonly used clinical labels, gain insight into epilepsy pathobiology and identify disease genes. I also developed a machine learning method that predicts if genetic variants in ion channels fire too much or too little which is important for precision clinical care. I am also studying the effects of genetic variation on electronic health records from biobanks such as the UK biobank, FinnGen project (where I remain an affiliated researcher) and the BioMe cohort.


Academic Training

05/2019 –03/2021         Postdoctoral Research Fellow, Mark Daly lab

                                            Institute for Molecular Medicine Finland: FIMM, University of Helsinki, Finland

04/2017 – 04/2019        Postdoctoral Research Fellow, Mark Daly lab

                                            Massachusetts General Hospital, Harvard Medical School/

                                            Broad Institute of MIT and Harvard, Boston, USA

05/2015 – 03/2017        Clinical Genetics Residency and Postdoctoral Research Fellow

                                            Lemke/Kovacs labs

                                            University of Leipzig, Germany

08/2010 – 05/2015        Doctoral Degree (MD, Dr. med.), top grade (summa cum laude)

                                            Max Planck Institute for Evolutionary Anthropology/ University of Leipzig, Germany

                                            (mentors S. Pääbo, F. Albert, T. Schöneberg)

09/2007 – 11/2014        MD degree, University of Leipzig, Germany


Selected Awards

05/2017 – 04/2019         DFG: postdoctoral research fellowships

10/2016 – 09/2017         BMBF: postdoc grant

10/2015 – 05/2017         BMBF: physician scientist fellowships

07/2009 – 11/2014         Studienstiftung des deutschen Volkes (The German National Merit Foundation): student stipend


Selected Presentations

10/2021: Invited Talk – Annual meeting of Infantile Seizure Society (hybrid, Taiwan): “Molecular Basis of Neurometabolic and Neurogenetic Diseases” & “Precision Medicine in Infantile Seizures”

08/2021: Talk (highlights plenary) – Annual meeting of European Society of Human Genetics (virtual): “Polygenic risk scores as a marker for lifetime epilepsy risk”

12/2020: Invited Talk – Annual meeting of American Epilepsy Society (virtual): “Predicting loss and gain of function of missense variants in voltage-gated calcium and sodium channels”

10/2020: Talk (opening plenary) – Annual meeting of American Society of Human Genetics (virtual): “Recessive effects of coding variants in 176,899 Finns”

07/2019: Talk – Gordon Research Conference Human Genetics and Genomics (USA): “Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels”


Selected Publications

Heyne, H. O., […]. M. Daly, 2021 "Mono-and bi-allelic effects of coding variants on disease in 176,899 Finns", medRxiv, 2021.

H. O. Heyne […] M. J. Daly “Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels”, Science Translational Medicine 2020, IF 17.2.

H. O. Heyne […] J. Lemke „Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy“, Genetics in Medicine, 2019. IF 9.9

H. O. Heyne, T. Singh […] M. J. Daly, I. Helbig, D. Lal, J. Lemke „De Novo Variants In Neurodevelopmental Disorders With Epilepsy“, Nature Genetics, 2018. IF 27.1

V. Strehlow*, H. O. Heyne* […] J. Lemke „GRIN2A-related disorders: genotype and functional consequence predict phenotype“, Brain, 2018. IF 10.8 *equal contribution