Information

Projects

Summary of major projects

Our work is demonstrated by a number of Lighthouse and Nested projects, with an emphasis on patient and public involvement. ➔ Read more

Multi-omic diagnosis of for children with rare disease

By harnessing cutting-edge scientific methods we can detect the causes of illness with better precision and make new discoveries for all society in the future. ➔ Read more

News

ETH Zurich - Hope for patients with a severe rare disease.

26.01.2023

Combining the results of multiple molecular analyses could lead to improved diagnosis of the rare and severe hereditary metabolic disease, methylmalonic aciduria. The new research offers potential benefits for affected individuals and could also pave the way for improved treatment options in the future.

The first SwissPedHealth publication - Nature Metabolism.

26.01.2023

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Nature Metabolism, 26 January 2023, doi: 10.1038/s42255-022-00720-8. Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, Bingisser A, Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C, Poms M, Traversi F, Buerer C, Cherkaoui S, Morscher RJ, Simmons L, Forny M, Ioannis Xenarios, Aebersold R, Zamboni N, Rätsch G, Dermitzakis E, Wollscheid B, Matthias R. Baumgartner MR, Froese DS.

Get in touch

Contact

For clinic appointments please consult your physician. For research inquiries please use the contact information provided.