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Genetic Consultations

25.06.2026 Infrastructure & Communications

We congratulate: Lars Maurer

Lars Maurer has been awarded the academic degree of Doctor of Medicine by Heidelberg University.

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30.04.2026 Infrastructure & Communications

Genetic Consultations moves to the Careum Hochhaus

New location from 1 June 2026 at Plattenstrasse 10 in Zurich

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25 Jun 2026

We congratulate: Lars Maurer

Lars Maurer has been awarded the academic degree of Doctor of Medicine by Heidelberg University.

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24 Jun 2026

We congratulate: Tanja Frey

Tanja Frey, FMH specialist in Medical Genetics at the Institute of Medical Genetics of the University of Zurich, has received an Early Career Award for Outstanding Science at the ESHG Conference …

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30 Apr 2026

Genetic Consultations moves to the Careum Hochhaus

New location from 1 June 2026 at Plattenstrasse 10 in Zurich

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25 Mar 2026

Recognized by kosek

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

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8 Jan 2026

Faculty Prize, University of Bern

Award for Excellence in Research at the University of Bern

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19 Sep 2025

In Memoriam - Albert Schinzel

Prof. Dr. med. Albert Schinzel, Professor Emeritus of Medical Genetics Passed away on 12 September 2025 at the age of 80.

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28 Aug 2025

New KRIT1 Mutation in Familial Cerebral Cavernous Malformations: Whole-Genome Sequencing Provides the Answer

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 …

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12 Aug 2025

AI Meets CRISPR for Precise Gene Editing

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 …

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19 Jul 2025

CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines

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 …

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4 Jul 2025

Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders

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. …

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1 Jun 2025

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

8q21.11 microdeletions involving ZFHX4 have previously been associated with a syndromic form of intellectual disability, hypotonia, unstable gait, and hearing loss. We report on 63 individuals-57 …

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19 May 2025

SwissITHACA specialist and public event

The SwissITHACA network invites you to a specialist and public event on the topic of "Failure to thrive and nutritional disorders in rare syndromes: Recognising and treating ’. Leading …

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15 Apr 2025

Easter Special Opening Times

The institute is closed from Maundy Thursday, 17th of April, 16:00, until Easter Monday, 21st of April. Please note that we will accept deliveries of samples until 17:00. We will be …

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11 Apr 2025

Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols

Ciliopathies are a group of human Mendelian disorders caused by dysfunction of primary cilia, small quasi-ubiquitous sensory organelles. Patients suffering from ciliopathies often display prominent …

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4 Apr 2025

Opening times during SSMG Annual Meeting

Our Genetic Consultations will be closed on Thursday 10th and Friday 11th of April due to the SGMG Annual Meeting. Our Genetics Diagnostic Laboratory and Administration Office remain open. This …

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1 Apr 2025

Transfer of the Institute of Medical Molecular Genetics

With the retirement of Professor Wolfgang Berger on January 31, 2025, the Institute of Medical Molecular Genetics has been dissolved as such, and its functions have been integrated into the …

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5 Mar 2025

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, …

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1 Mar 2025

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

Of the around 7,000 known rare diseases worldwide, disease-modifying treatments are available for fewer than 5%, leaving millions of individuals without specialized therapeutic strategies.

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24 Feb 2025

Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP

ADNP-Related Disorder [previously known as Helsmoortel-Van der Aa syndrome (HVDAS)] is a rare genetic condition resulting from mutations in the activity-dependent neuroprotector homeobox (ADNP) gene.

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12 Feb 2025

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of …

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