How to find us

New location from 1 June 2026 at Plattenstrasse 10 in Zurich

New location from 1 June 2026 at Plattenstrasse 10 in Zurich

How do we provide seamless, lifelong care for patients facing the immense complexity of rare developmental disorders?

Award for Excellence in Research at the University of Bern

Prof. Dr. med. Albert Schinzel, Professor Emeritus of Medical Genetics

Passed away on 12 September 2025 at the age of 80.

A recent brief publication in the journal Neurogenetics reports on a remarkable advance in the diagnosis of familial cerebral cavernomas (FCCM): a previously undiscovered structural variant in the KRIT1 gene, identified by whole genome sequencing (WGS), has opened up new perspectives.

A research team headed by the University of Zurich has developed a powerful new method to precisely edit DNA by combining cutting-edge genetic engineering with artificial intelligence. This technique opens the door to more accurate modeling of human diseases and lays the groundwork for next-generation gene therapies.

CEP290 is an important human disease gene, as mutations are implicated in a broad spectrum of autosomal recessive ciliopathies, including Leber congenital amaurosis and Joubert, Meckel, Senior-LØken or Bardet Biedl syndromes.

Peters anomaly (PA) is a rare congenital disorder within the anterior segment dysgenesis (ASD) spectrum, characterized by corneal opacity, iridocorneal adhesions, and potential systemic involvement. The genetic basis of PA and related syndromes are complex and incompletely understood.