Kerstin Kutsche

Prof. Dr. Kerstin Kutsche is a distinguished researcher at the Institute of Human Genetics within the Medical Faculty of University Medical Center Hamburg-Eppendorf. With over a decade of continuous research funding from the Deutsche Forschungsgemeinschaft (DFG), she leads multiple projects focused on identifying genetic causes of rare disorders through advanced sequencing technologies. Her work spans from basic gene discovery to functional characterization of disease mechanisms.

Dr. Kutsche's primary research interests center on neurodevelopmental disorders, syndromic conditions, and molecular diagnostics. She has pioneered approaches using whole-exome sequencing (WES), whole-genome sequencing (WGS), and RNA sequencing to uncover genetic variants responsible for conditions including microphthalmia with linear skin defects (MLS) syndrome, Marfan syndrome and related aortopathies, and various neurocardiofaciocutaneous syndromes. Her research integrates genomic analysis with functional studies to elucidate disease mechanisms, particularly focusing on how genetic variants affect cellular processes like mitochondrial function, synaptic transmission, and developmental pathways.

Her recent publications demonstrate a strong focus on genotype-phenotype correlations, with particular attention to how specific variant types (nonsense, missense, structural variants) manifest in clinical presentations. The research trends show increasing sophistication in integrating multi-omics approaches, especially combining WGS with RNA-seq to validate pathogenic variants and understand their functional consequences.

• Principal Investigator for DFG project KU 1240/13-1 (2020-2025) on genome and RNA sequencing in Mendelian disorders
• Lead researcher for multiple DFG-funded projects spanning from 2011 to present
• Active collaborator on international research consortia studying rare genetic disorders