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Institut für Medizinische Genetik News, Events & Publikationen



  • SwissGenVar Workflow

    SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland

    To support clinical decision making, all five Swiss academic institutions for Medical Genetics joined forces with the Swiss Institute of Bioinformatics (SIB) to create SwissGenVar as a user-friendly nationwide repository and sharing platform for genetic variant data .

  • medizinische genetik coverpage

    Prof. Dr. med. Ruxandra Bachmann-Gagescu zur ausserordentlichen Professorin für Entwicklungsgenetik ernannt

    Ruxandra Bachmann-Gagescu wurde Oktober 2023 als ausserordentliche Doppel-Professorin für Entwicklungsgenetik am Institut für Molekularbiologie der Mathematisch- Naturwissenschaftlichen Fakultät und am Institut für Medizinische Genetik der Medizinischen Fakultät der Universität Zürich ernannt.

  • 3D protein modelling of the human AFF3 degron region bound to SIAH ubiquitin ligase

    Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles


    We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative mode of action, wherein an increased level of AFF3 resulted in pathological effects.

  • De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features

    Deubiquitination is critical for the proper functioning of numerous biological pathways such as DNA repair, cell cycle progression, transcription, signal transduction, and autophagy. Accordingly, pathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorders (ND) and congenital abnormalities. ATXN7L3 is a component of the DUB module of the SAGA complex, and two other related DUB modules, and serves as an obligate adaptor protein of 3 ubiquitin-specific proteases (USP22, USP27X or USP51).

  • Elife logo

    Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction

    Cilia defects lead to scoliosis in zebrafish, but the underlying pathogenic mechanisms are poorly understood and may diverge depending on the mutated gene.  

  • American Journal of Human Genetics cover

    Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

    Anoctamins are a family of Ca2+-activated proteins that may act as ion channels and/or phospholipid scramblases with limited understanding of function and disease association. Here, we identified five de novo and two inherited missense variants in ANO4 (alias TMEM16D) as a cause of fever-sensitive developmental and epileptic or epileptic encephalopathy (DEE/EE) and generalized epilepsy with febrile seizures plus (GEFS+) or temporal lobe epilepsy.

  • medical genetics cover

    DPF2-related Coffin-Siris syndrome type 7 in two generations

    To date 11 patients with Coffin-Siris syndrome type 7 (OMIM 618027) have been described since the first literature report. All reported patients carried de novo variants with presumed dominant negative effect, which localized in the PHD1/PHD2 domains of DPF2.

    Read the full article here.

  • Molecular Systems Biology

    Systematic identification of structure-specific protein–protein interactions

    The physical interactome of a protein can be altered upon perturbation, modulating cell physiology and contributing to disease. Identifying interactome differences of normal and disease states of proteins could help understand disease mechanisms, but current methods do not pinpoint structure-specific PPIs and interaction interfaces proteome-wide.

  • Netzwerkumstellung

    Wir möchten Sie darüber informieren, dass das Institut am 1. Mai und bis 12 Uhr am 2. Mai eine Umstellung des in- und externen Netzwerks durchführt.

  • Alzheimer

    Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease

    Epithelial cells comprising the choroid plexus (CP) form a crucial barrier between the blood
    and the cerebrospinal fluid, thereby assuming a central position in brain homeostasis and signaling.
    Mounting evidence suggests that the impairment of CP function may be a significant contributor to
    Alzheimer’s disease (AD) pathogenesis.

    Read the full article here.

  • Gründonnerstag ab 16.00 Uhr bis Ostermontag geschlossen

    Das Institut ist ab Gründonnerstag, 16.00 Uhr, bis und mit Ostermontag, 1. April, geschlossen. 

    Bitte beachten sie das wir noch bis 17:00 Uhr Proben annehmen. Am Dienstag den 2. April sind wir wieder wie gewohnt für Sie da!


  • Information

    E-Mail Störung

    Das Institut für Medizinische Genetik hatte einen E-Mail-Störung. Dies ist nun behoben. Weitere Informationen finden Sie in diesem Artikel.


  • SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

    SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. 

    Read the full article here.

  • Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction

    Cilia defects lead to scoliosis in zebrafish, but the underlying pathogenic mechanisms are poorly understood and may diverge depending on the mutated gene. We dissected the mechanisms of scoliosis onset in a zebrafish mutant for the rpgrip1l gene encoding a ciliary transition zone protein. rpgrip1l mutant fish developed scoliosis with near-total penetrance but asynchronous onset in juveniles.

    Read the full article here.

  • biorxiv

    Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system

    Joubert Syndrome (JBTS) is a neurodevelopmental ciliopathy defined by a highly specific midbrain-hindbrain malformation, variably associated with additional neurological features. JBTS displays prominent genetic heterogeneity with >40 causative genes that encode proteins localising to the primary cilium, a sensory organelle that is essential for transduction of signalling pathways during neurodevelopment, among other vital functions.

    Read this preprint in full in our Preprint section.

  • dissertation

    Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies

    This thesis aims to use bioinformatic approaches to elucidate the underlying genetic causes of three different diseases. 

  • SMW Logo

    Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry

    Systemic amyloidoses are rare protein-folding diseases with heterogeneous, often nonspecific clinical presentations. To better understand systemic amyloidoses and to apply state-of-the-art diagnostic pathways and treatment, the interdisciplinary Amyloidosis Network was founded in 2013 at University Hospital Zurich. In this respect, a registry was implemented to study the characteristics and life expectancy of patients with amyloidosis within the area covered by the network. Patient data were collected retrospectively for the period 2005–2014 and prospectively from 2015 onwards.

  • European Journal Human Genetics Cover

    Identification of the DNA methylation signature of Mowat-Wilson syndrome

    Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency of ZEB2, encoding a transcription factor required for neurodevelopment. 

    Read this article in full at the European Journal of Human Genetics.

  • Molecular and Phenotypic Characterization of the RORB-Related Disorder

    Heterozygous variants in RAR-related orphan receptor B (RORB) have recently been associated with susceptibility to idiopathic generalized epilepsy.  Read this article in full at Neurology

    (Artikel auf Englisch)

  • Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

    Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis. Read the full pre-print article online at medRxiv

    (Artikel auf Englisch)

  • Unveiling DNA methylation in Alzheimer’s disease: a review of array-based human brain studies.

    The intricacies of Alzheimer’s disease pathogenesis are being increasingly illuminated by the exploration of epigenetic mechanisms, particularly DNA methylation. This review comprehensively surveys recent human-centered studies that investigate whole genome DNA methylation in Alzheimer’s disease neuropathology.  

    (Artikel auf Englisch)

  • Medical Genetics Cover

    Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor

    Somatic variants in the NOTCH pathway regulator FBXW7 are frequently seen in a variety of malignancies. Read this publication online in the American Journal of Medical Genetics

    (Artikel auf Englisch)