2025
News list
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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 back as usual on Tuesday 22nd of April!Happy Easter!
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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 neurodevelopmental phenotypes, underscoring the importance of primary cilia during development and for function of the central nervous system (CNS).
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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 important meeting will be hosted by Prof. Anita Rauch and Prof. Ruxandra Bachmann-Gagescu from our institute and takes place at University Hospital (USZ) here in Zurich.
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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 Institute of Medical Genetics.
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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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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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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, which is a chromatin remodeling complex. This work aims to further delineate the phenotypic spectrum of ARID2-RD, providing clinicians with additional data for better care and aid in the future diagnosis of this condition.
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19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchsʼ Endothelial Dystrophy Including the 6th Generation in a Pedigree
Nineteen-year follow-up after initial examination on patients with Axenfeld-Rieger anomaly or syndrome (ARAS) and coexisting Fuchsʼ endothelial dystrophy (FED). All individuals had previously been tested positive for the PITX2 (g.20 913 G>T) mutation. Additionally, we addressed their descendants for phenotype and genotype examination to determine their penetrance into the next generations.
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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 entire genome sequences, but this has not yet been systematically evaluated.