More about Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy 11 Jul 2024 Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy To present a case series of novel CHD2 variants in patients presenting with genetic epileptic and developmental encephalopathy. More about Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
More about SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland 17 Jun 2024 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 ... More about SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland
More about Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort 13 Jun 2024 Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort The purpose of this study was to assess the added diagnostic value of whole genome sequencing (WGS) for patients with inherited retinal ... More about Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort
More about Prof Dr med Ruxandra Bachmann-Gagescu appointed Associate Professor of Developmental Genetics 5 Jun 2024 Prof Dr med Ruxandra Bachmann-Gagescu appointed Associate Professor of Developmental Genetics Ruxandra Bachmann-Gagescu was appointed Associate Double Professor of Developmental Genetics at the Institute of Molecular Biology of the ... More about Prof Dr med Ruxandra Bachmann-Gagescu appointed Associate Professor of Developmental Genetics
More about Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 30 May 2024 Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), ... More about Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
More about De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features 16 May 2024 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, ... More about De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
More about Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction 14 May 2024 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 ... More about Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction
More about Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect 13 May 2024 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 ... More about Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
More about DPF2-related Coffin-Siris syndrome type 7 in two generations 6 May 2024 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 ... More about DPF2-related Coffin-Siris syndrome type 7 in two generations
More about Systematic identification of structure-specific protein–protein interactions 3 May 2024 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 ... More about Systematic identification of structure-specific protein–protein interactions
More about Network Migration 19 Apr 2024 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. More about Network Migration
More about Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease 21 Mar 2024 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 ... More about Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease
More about Easter Closing 20 Mar 2024 Easter Closing The institute is closed from Thursday, 28 March, 16:00, until Easter Monday, 1 April. Please note that we will ... More about Easter Closing
More about E-mail Outage of 8th of March 2024 10 Mar 2024 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. ... More about E-mail Outage of 8th of March 2024
More about SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation 27 Feb 2024 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 ... More about SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
More about Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction 22 Feb 2024 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 ... More about Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction
More about Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies 20 Feb 2024 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. More about Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies
More about Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry 15 Feb 2024 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 ... More about Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry
More about Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system 15 Feb 2024 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 ... More about Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system
More about Identification of the DNA methylation signature of Mowat-Wilson syndrome 13 Feb 2024 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 ... More about Identification of the DNA methylation signature of Mowat-Wilson syndrome