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Institute of Medical Genetics News, Events & Publications


News list

  • 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.

  • Network Migration

    We would like to inform you that the institute will carry out a migration of the internal and external network from 1 May till noon 2 May.

  • 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.

  • easter

    Easter Closing

    The institute is closed from Thursday, 28 March, 16:00, until Easter Monday, 1 April. 

    Please note that we will accept samples until 17:00.
    We will be back as usual on Tuesday 2nd April!

  • Information

    E-mail Outage of 8th of March 2024

    The Institute of Medical Genetics experienced an email outage. This has now been resolved. More information can be found in this article.


  • 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

  • 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

  • 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. 

  • 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