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Our colleagues from HMGU contributed to a groundbreaking pilot study integrating digital brain tools and genetic data. This works opens new paths to understanding rare diseases and neurodevelopmental disorders, paving the way for innovative therapies and insights into brain function.
Our partners Lydia Teboul and Guillaume Pavlovic are the corresponding authors of the Laboratory Animal Genetic Reporting (LAG-R) framework. Don’t miss their Lab Animal interview, where they discuss its benefits, motivations, and how to accelerate adoption of the recommendations that it presents.
Our partners at MRC Harwell and ICS have published the Laboratory Animal Genetic Reporting framework to improve the genetic reporting and validation of laboratory animal models, thereby reinforcing the reliability of animal experiments. This publication is a collaboration with the INFRAFRONTIER Consortium and other colleagues.
Partners from the German Mouse Clinic (Helmholtz Munich), in collaboration with INFRAFRONTIER and IMPC colleagues, reveal a convergence of schizophrenia risk genes with mouse prepulse inhibition genes. Using hierarchical clustering and weighted gene co-expression network analysis, the study highlights neuronal genes involved in synaptic function and neurotransmission.
A new study by our partners at the German Mouse Clinic (at Helmholtz Munich) and colleagues from IBioBA-CONICET demonstrates that circular RNAs, specifically circTulp4, play a significant role in neural processes. The research used a loss-of-function animal model, showing that circTulp4 affects neurotransmission and brain behaviour.
Our partners from Biocenter Oulu have co-authored a study revealing that two TIE1 loss-of-function variants are linked to primary lymphedema, a condition causing tissue swelling and fibrosis, and are lethal in homozygous mice.
Our partners at NKI and colleagues have developed the OBSERVE guidelines to improve the preparation and reporting of in vivo cancer studies in rodents. The guidelines provide detailed instructions on optimal preparation, implantation methods, and monitoring criteria. They also address expected adverse effects and offer tools to minimise distress and pain in animal models, promoting ethical practices and animal welfare in cancer research.
The latest collaboration of INFRAFRONTIER with the German Mouse Clinic is available on line. This publication shows how standardising quality of life and wellbeing assessment protocols in mouse research can improve the relevance of these studies to human clinical trials. Supported by the CORBEL project.
In a groundbreaking study published in Nature, an international team of researchers, including our partners from CCP, has discovered a crucial link between autoimmune disorders and defects in tooth enamel development. This study sheds light on the poorly understood conditions of Amelogenesis Imperfecta in patients with Autoimmune Polyglandular Syndrome Type-1 (APS-1) and Celiac Disease.
The EOSC-Life consortium publishes an article in the EMBO Journal, outlining effective measures to boost the utilization and sustainability of data resources. The study also presents twelve recommendations for handling research data in alignment with FAIR principles.
A study conducted by the German Mouse Clinic and collaborating research institutions reveals a previously unknown connection between the DHX9 gene and various rare neurodevelopmental disorders.
Biomedcode’s Tg197 human TNF transgenic mouse model of chronic destructive arthritis provides new insights on how combination treatment with Dasatinib and low-dose anti-TNF leads to synergistic senolytic effects on chondrocytes and effective treatment of arthritis.
A Biomedcode collaboration has developed a human-RANKL dependent breast cancer mouse model aiming to study disease mechanisms and establish preclinical platforms for the evaluation of human therapeutics targeting cancer.
A new publication of INFRAFRONTIER in Mammalian Genome is available on line now. Get an overview of the latest INFRAFRONTIER advancements, including services, resources, and technical developments.
New research identified an endogenous factor influencing amyloid pathology in Alzheimer’s disease using the APPPS1-21 mouse model. The study opens doors to novel polymorphism-based interventions.
A useful resource for institutions that receive laboratory animals from colleagues or third parties to ensure that a tried and tested system of quality control is in place.
Mouse models are relevant to study the functionality of genes involved in human diseases; however, translation of phenotypes can be challenging. This paper identified 153 genes associated with heart disease in humans, 151 with a one-to-one mouse ortholog.
Three approaches with a reputation for slowing ageing processes have proven largely ineffective. For their study, researchers developed a new method to measure aging, which accounts for the complexity of ageing in organisms.
Suitable animal models are essential for translational research, especially in the case of complex, multifactorial conditions, such as obesity.
Using genetically sterile Prm1 males is a recognised alternative to surgical vasectomy when generating pseudopregnant females for embryo transfer programmes.
This recently published translational study sheds light on the UQCRH gene and mitochondrial complex III diseases. An international team led by researchers and clinicians from Helmholtz Zentrum München, Germany, Manchester Centre for Genomic Medicine, UK, Newcastle University, UK and University Hospital Salzburg, Austria, identified two cousins with a deletion in the UQCRH gene, which codes for a structural complex III subunit, and characterized a novel mouse model that carries the equivalent deletion in Uqcrh.
In this current study scientists teamed up to unraveled the mechanistic cascade underlying cortical spreading depression (CSD) and migraine susceptibility exemplified in a mouse model of familial hemiplegic migraine type 3 (FHM3).
Influenza during pregnancy increases the susceptibility to infection in offspring In this recent study, scientists of the Heinrich-Pette-Institute, Hamburg, and the University of Veterinary Medicine Hannover together with colleagues from the Helmholtz Zentrum München, the Imperial College London, and the Research Center Borstel could show, that moderate influenza A infection of pregnant mice increased the offspring’s susceptibility to infection from other viruses as well as bacteria, especially early in life. Enhanced vulnerability to infection in neonates was associated with reduced haematopoetic development and immune responses.
Scientists from the University of Bonn in collaboration with colleagues from Radboud University, Nijmegen and the German Mouse Clinic showed, that Creld1, the first single gene linked to atrioventricular septal defects (AVSD) of newborn, regulates myocardial development and function in mice.
As part of the International Mouse Phenotyping Consortium (IMPC), researchers from Helmholtz Zentrum München led by Prof. Hrabě de Angelis, have uncovered a large number of novel genes controlling the mineral density of bone. Because bone mineral density is low in patients with osteoporosis, these findings will help to better understand the underlying molecular mechanisms of the disease. The new insight is important to advance precision medicine for people affected by osteoporosis in terms of prevention and therapeutic options.
In a common effort, scientists of the German Mouse Clinic and Turku University examined the immune system of genetically modified mice that develop high estrogen levels in males. Applying in vivo and molecular phenotyping approaches, the researchers showed that an imbalanced circulating estrogen to androgen ratio in male mice feminized their immune response. Furthermore, their B cell function was altered, and the risk of autoimmune diseases was enhanced. The study was published recently in Scientific Reports.
Using a combination of in vitro and in vivo screens, scientists from the Helmholtz-Zentrum München and colleagues identified the RNA-modifying enzyme METTL6 as a potential new oncogene. In line with findings that loss of METTL6 inhibits liver cancer cell proliferation and impaired colony formation capacity, low expression of METTL6 correlates with increased survival of patients with hepatocellular carcinoma.
Inositol-1,4,5-trisphosphate 3-kinase-A (ITPKA) is the neuronal isoform of ITPKs and exhibits both actin bundling and InsP3kinase activity. In addition to neurons, ITPKA is ectopically expressed in tumor cells, where its oncogenic activity increases tumor cell malignancy. This raise the question, if inhibition of ITPKA could reduce oncogenic activity. However, prior to developing ITPKA specific inhibitors for treatment of cancer patients, it has to be excluded that ITPKA exhibits essential functions in non-tumor cells.
An international team of researchers lead by Helmholtz Zentrum München uncovered the molecular mechanisms that link rRNA methylation to development and disease. The study was published in “Genes & Development”.
Munich / Salt Lake City – The role for iron in the pathogenesis of diabetes is on debate. While the consequences of excess iron in β-cell function and survival are established, the effects of iron deficiency on β-cell function and diabetes risk in humans are not yet fully understood.
A new multi-organ disease named FINCA (Fibrosis, Neurodegeneration and Cerebral Angiomatosis) that is fatal in early childhood has been identified in three pediatric patients in Finland. Children affected have previously undescribed formation of connective tissue in the lungs, neurodegeneration and increased vasculature formation in the brain.
Scientists have identified a network of genes that could play a vital role in the development of metabolic diseases such as diabetes
Two major papers from the International Mouse Phenotyping Consortium have been published today in Nature Genetics and Nature Communications.
Roughly a third of all genes in the mammalian genome are essential for life. A new article in Nature, from an international, multi-institutional research team including many INFRAFRONTIER partners, describes the large-scale discovery of those genes and how it will impact understanding of mammalian development and human disease.
The next issue of the Journal ‘Mammalian Genome’ will be dedicated to the study of ageing and age-related diseases. It contains an overview article on INFRAFRONTIER as a European resource for studying the functional basis of human disease. The article highlights the platforms and resources that INFRAFRONTIER provides for ageing research, an more generally how INFRAFRONTIER promotes the global sharing of high-quality resources and data and thus contributes to data reproducibility and animal welfare.
Scientists at Helmholtz Zentrum München (HMGU), in collaboration with the Technical University of Munich (TUM) and the German Center for Diabetes Research (DZD), have shown that diet-induced obesity and diabetes can be epigenetically inherited by the offspring via both the oocytes and the sperm.
The results were published in Nature Genetics and have received broad international media attention.
GEMM-ESC protocol published in EMBO Molecular Medicine last year, the Netherlands Cancer Institute (NKI) presented a strategy for rapid analysis of gene function in mouse models by deriving and modifying embryonic stem cells (ESC) from validated genetically engineered mouse models (GEMM), the so-called GEMM-ESC strategy.
Mutant mouse strains generated and phenotyped by the International Mouse Phenotyping Consortium are made available to the research community via public repositories, mostly as cryopreserved sperm or embryos. To ensure the quality of this frozen resource there is a requirement that for each strain the frozen sperm/embryos are proven able to produce viable mutant progeny, before the live animal resource is removed from cages.
Reproducibility: Use mouse biobanks or lose them, Nature | Comment 10 June 2015 Kent Lloyd, Craig Franklin, Cat Lutz & Terry Magnuson Now that genetic engineering of mice is so easy, centralized repositories are essential, argue Kent Lloyd and colleagues.
A publication describing the INFRAFRONTIER service portfolio and the web portal that gives access to all of them has been accepted for the next Database Issue of Nucleic Acids Research. Advance access is available on the NAR webpage.
