Translational scientist, 20 years in mitochondrial biology, rare genetic disease, genomic medicine, and oligonucleotide therapeutics. Co-author on 15 peer-reviewed publications including JACC, Nature, Nature Genetics, and Cell Reports Medicine. Medix Prize for Clinical Research.

Consulting services: Antisense oligonucleotide and splice-correction programs: ASO design and tiling, cell-based screening cascades, quantitative rescue assays, efficacy readouts. Rare disease target validation and disease modeling: patient-derived fibroblast and iPSC-cardiomyocyte models, genome-edited isogenic controls, mitochondrial function and bioenergetics panels. Multi-omics data analysis and interpretation: differential expression, pathway and enrichment analysis, exome-based variant interpretation, experimental design and quality-control review in R. Scientific writing and grants: applications, manuscripts, systematic literature reviews, competitive-landscape dossiers. Scientific figure design and data visualization. Expert consultation and training.

Expertise: Mitochondrial disease, rare and ultra-rare pediatric disorders, childhood cardiomyopathies. Splice-switching oligonucleotides, RNA-targeted therapeutics, target validation, biomarker development. Patient-derived fibroblasts, iPSC-cardiomyocytes, CRISPR-Cas9, mitochondrial respiration assays, blue-native PAGE, Western blotting, confocal microscopy, qPCR, RNA-seq, mass spectrometry proteomics, biostatistics, R, Bioconductor, ggplot2.

Scope: I work downstream of the sequencing pipeline, from processed count matrices and called variants. Not raw-read processing or pipeline development.

Available immediately for freelance and contract projects, remote or on-site around Munich.