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 ...
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 ...
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, ...
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 ...
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 ...
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 ’. ...
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 ...
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 ...
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 ...
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 ...
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.
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) ...
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 ...
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 ...
Further delineation of the SCAF4-associated neurodevelopmental disorder
While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and ...
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
This study details a novel syndromic form of autosomal recessive intellectual disability resulting from recessive variants in GTF3C3, encoding a key component of the DNA-binding transcription ...
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