Metabolic Genetics
We map rare and common variants that disturb lipid handling, brown-fat thermogenesis, and systemic energy balance. From trio-WGS in patients to mechanistic follow-up in cells.
We work where rare-disease genetics meets metabolic biochemistry — mapping how individual variants reshape lipid and energy homeostasis. Wet-lab biology, lipidomics, and the bioinformatic tools we build ourselves all feed the same loop: variant → mechanism → therapy.
Each project moves between patient genome, dish, and animal — and the software that connects them. Computation is not a service we consume; it is a thing we build, ship, and maintain.
We map rare and common variants that disturb lipid handling, brown-fat thermogenesis, and systemic energy balance. From trio-WGS in patients to mechanistic follow-up in cells.
Quantitative mass-spectrometry of lipid species across tissues, diets, and genotypes — connecting individual fatty acids to whole-organism phenotypes.
Primary adipocytes, hepatocytes, CRISPR perturbations, and high-throughput functional screens for variant-effect mapping. The bench work that turns a candidate variant into a mechanism.
We build the software we need ourselves — a haplotype-aware structural-variant assembler, a graph-genome browser, and the self-hosted AI appliance our autonomous pipelines run on.
De novo fatty-acid synthesis doesn't just add saturated lipids to the pool — it actively gates how much polyunsaturated fat from the diet your body actually uses. The result reframes how we think about FAS inhibitors as metabolic drugs, and was a multi-year collaboration linking human genetics, lipidomics and pharmacology.
Worthmann A, Ridder J, Piel SYL, Evangelakos I, Musfeldt M, Voß H, O’Farrell M, Fischer AW, Adak S, Sundd M, Siffeti H, Haumann F, Kloth K, Bierhals T, Heine M, Pertzborn P, Pauly M, Scholz JJ, Kundu S, Fuh MM, Neu A, Tödter K, Hempel M, Knippschild U, Semenkovich CF, Schlüter H, Heeren J, Scheja L, Kubisch C,
Most recent peer-reviewed papers and the lab's current preprints, mixed by date. Browse all 39 on the publications page.
Scholz JJ, Piel SYL, Evangelakos I, Müller C, Karall D, Reinhart-Steininger B, Steinbrücker K, Stulnig T, Rohde J, Mayr J, Wagner M, Biabani A, Mair T, Müller K, Schlüter H, Weidemann S, Chirico V, Weiler-Normann C, Hagel C, Knisely AS, Heeren J, Schoser B, Kubisch C, Hempel M, Prokisch H, Wortmann SB, Worthmann A,
Evangelakos I, Verkade E, Rohde JK, Zaufel A, Vargek M, Heine M, Worthmann A, Graute S, Manka Fuh M, Gunasekaran K, Kumari M, Schwinge D, von Bergen M, Rolle-Kampczyk U, Engelmann B, Breinbauer R, Fuerst R, Saleem U, de Boer JF, , Hansen A, Scheja L, Kuipers F, Moustafa T, Heeren J
Skenteris NT, Luttermann E, Nair S, Evangelakos I, Pujantell M, Eggers M, Hausmann F, Bérouti M, Padoan B, Flomm FJ, Claussen JM, Grünhagel B, Salfelder A, Beifuss B, Biskup S, Blümke P, Rading K, Hildebrandt H, Matschl U, Giesemann-Jansen S, Hennesen J, Nikolaev VO, Kutsche M, Kubisch C, Koch-Nolte F, Tomas NM, Tolosa E, Lütgehetmann M, Stahl FR, Hornung V, Bunders MJ, , Topf M, Kötter I, Altfeld M
Peymani F, Ebihara T, Smirnov D, Kopajtich R, Ando M, Bertini E, Carrozzo R, Diodato D, Distelmaier F, Fang F, Ghezzi D, Hempel M, Iwanicka-Pronicka K, Klopstock T, Stenton SL, Lamperti C, Liu Z, Murtazina A, Okamoto Y, Okazaki Y, Piekutowska-Abramczuk D, Rötig A, Ryzhkova O, , Shagina O, Takashima H, Tsygankova P, Zech M, Meitinger T, Shimura M, Murayama K, Prokisch H
Arndt N, Mair T, Riedner M, Biabani A, Voß H, Schlüter H, Förster L, Knochenhauer T, Sachse M, Beyer M, Leonhardt M, von Kodolitsch Y, , Sauter G, Nauth T, Naito S, Girdauskas E, Reichenspurner H, Detter C, Rosenberger G, Demal TJ
Belios I, Zazara DE, Evangelakos I, Hambach J, Siegl T, Riecken K, Albrecht M, Müller C, Spohn M, Wieczorek A, Rading K, Thiele K, Giannou AD, Zarogiannis SG, Ledée N, Wang W, Gijze S, Nouta J, Manalastas-Cantos K, Graf I, Urbschat C, Tallarek AC, Topf M, Stahl F, Koch-Nolte F, Lütgehetmann M, Wuhrer M, Alawi M, Becker M, Addo MM, Diemert A, , Arck PC
Telge M, Evangelakos I,
Haumann F, Evangelakos I, Worthmann A, Liebold I, Kotschi S, Bischoff A, Neuhofer C, Schweizer M, Heine M, Büchner B, Klopstock T, Prehn C, Dyar K, Prokisch H, Bosurgi L, Heeren J, Bartelt A, Kubisch C,
Grouped by topic. Each dot is a journal; the bigger the dot, the more papers we have published there.
Source: PubMed E-utilities · query Schlein C[Author]
The flagship code bases — every other repo in our org is built on top of one of these.
Brainbox — self-hosted AI workstation appliance. Empowers your agents, protects your data and computer. Every agent session is a real, sealed virtual machine.
BRANCH — Breakpoint-Resolved Assembly of Non-diploid Copy-number Heterogeneity. Somatic mosaic-aware long-read genome assembler with vPCR-based CNV quantification.
Standalone genome-graph viewer for structural variant paths. .vpf/.vpz binary formats. Rust + egui.
Autonomous micro-agents that live in GitHub repos and run 24/7 on Actions — no server required.