Category Archives: Genetics, genomics and bioinformatics

Rôle des consultations génétiques dans le diagnostic des enfants et des adolescents atteints de troubles du spectre de l’autisme

Les recherches sur l’origine génétique des troubles du spectre de l’autisme (TSA) se sont significativement développées ces dernières années. Cependant, de nombreux patients concernés n’en bénéficient pas encore systématiquement. Une étude met en évidence l’intérêt d’étendre le dépistage génétique à un nombre plus important de patients souffrant de TSA avec déficit intellectuel.

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A Gene Therapy Tested in the Treatment of Myotubular Myopathy

Inserm and CNRS researchers from the Institute of Genetics and Molecular and Cellular Biology (Inserm/CNRS/Université de Strasbourg) have discovered how myotubularin – a protein deficient in myotubular myopathy – interacts with amphiphysin 2 and suggest targeting the latter in order to treat patients.

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Gene therapy durably reverses congenital deafness in mice

In collaboration with the universities of Miami, Columbia and San Francisco, scientists from the Institut Pasteur, Inserm, CNRS, Collège de France, Sorbonne University and the University of Clermont Auvergne have managed to restore hearing in an adult mouse model of DFNB9 deafness – a hearing disorder that represents one of the most frequent cases of congenital genetic deafness. Individuals with DFNB9 deafness are profoundly deaf as they are deficient in the gene coding for otoferlin, a protein which is essential for transmitting sound information at the auditory sensory cell synapses. By carrying out an intracochlear injection of this gene in an adult DFNB9 mouse model, the scientists successfully restored auditory synapse function and hearing thresholds to a near-normal level. These findings, published in the journal PNAS, open up new avenues for future gene therapy trials in patients with DFNB9.

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Alzheimer’s: identification of potential target protein aggregates for treating the disease

La propagation des agrégats de la protéine Tau dans le cerveau contribue à la progression de la maladie d’Alzheimer. Des chercheurs du Laboratoire des maladies neurodégénératives : mécanismes, thérapies, imagerie (CNRS/CEA/Université Paris-Sud, MIRCen), en collaboration avec l’Ecole normale supérieure, Sorbonne Université et l’Inserm, viennent d’identifier les cibles de ces agrégats. Publiés dans EMBO Journal le 10 janvier 2019, ces travaux permettront la conception d’outils capables de bloquer ces éléments clés dans la propagation des agrégats et de contrecarrer ainsi leur effet pathologique.

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Discovery of novel mechanisms that cause migraines

Researchers at CNRS, Université Côte d’Azur and Inserm have demonstrated a new mechanism related to the onset of migraine. In fact, they found how a mutation, causes dysfunction in a protein which inhibits neuronal electrical activity, induces migraines. These results, published in Neuron on December 17, 2018, open a new path for the development of anti-migraine medicines.

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Cancer under pressure: visualizing the activity of the immune system on tumor development

As tumors develop, they evolve genetically. How does the immune system act when faced with tumor cells? How does it exert pressure on the genetic diversity of cancer cells? Scientists from the Institut Pasteur and Inserm used in vivo video techniques and cell-specific staining to visualize the action of immune cells in response to the proliferation of cancer cells. The findings have been published in the journal Science Immunology on November 23, 2018.

Also posted in Cell biology, development and evolution, Cancer, Press releases, Immunology, inflammation, infectiology and microbiology, Health technologies | Tagged | Comments closed

The origins of asymmetry: A protein that makes you do the twist

Asymmetry plays a major role in biology at every scale: think of DNA spirals, the fact that the human heart is positioned on the left, our preference to use our left or right hand … A team from the Institute of biology Valrose (CNRS/Inserm/Université Côte d’Azur), in collaboration with colleagues from the University of Pennsylvania, has shown how a single protein induces a spiral motion in another molecule. Through a domino effect, this causes cells, organs, and indeed the entire body to twist, triggering lateralized behaviour. This research is published in the journal Science on November 23, 2018.

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Identifying a genetic factor causing lung fibrosis complicating rheumatoid arthritis

Teams of rheumatology, respiratory medicine, genetics and the university hospital department FIRE Hospital Bichat Claude Bernard AP-HP, in collaboration with INSERM, Université Paris Diderot, the Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA, have discovered that a rare allele of rs35705950 variant gene MUC5B multiply by six the risk of occurrence of pulmonary fibrosis in patients with rheumatoid arthritis (RA). This broad study of genetic association demonstrates the existence of a common genetic basis between pulmonary fibrosis associated with rheumatoid arthritis and idiopathic pulmonary fibrosis (IPF).

These results, obtained with the participation of national and international network of pulmonologists and rheumatologists, are published in the journal The New England Journal of Medicine October 20, 2018.

They are a first step in understanding the diffuse interstitial lung disease (PID) of rheumatoid arthritis, a serious complication whose therapeutic management is not currently codified.

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Des chercheurs à Généthon démontrent la possibilité de ré-administrer une thérapie génique

Des chercheurs de Généthon, le laboratoire de l’AFM-Téléthon, et de l’Inserm, en collaboration avec la biotech américaine Selecta Biosciences, démontrent la possibilité de ré-administrer une thérapie génique par vecteur AAV (virus adéno-associé), sans réponse immunitaire, grâce à des nanoparticules de rapamycine, un immunosuppresseur. Une première scientifique, dont les résultats sont publiés ce jour dans la revue Nature Communications, qui, à terme, renforcera l’efficacité thérapeutique de la thérapie génique.

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Myositis: A New Classification Representing a Decisive Step Towards Improved Diagnosis and Personalized Treatment

Prof. Olivier Benveniste’s Inflammatory myopathies and innovative targeted therapies team at the Institute of Myology has produced a new classification of the different forms of myositis (rare inflammatory muscle diseases). Four new types of myositis taking into account the various clinical criteria of patients have now been defined. This research, involving teams from the Institute of Myology, Inserm, the Paris public hospitals system (AP-HP) and Sorbonne Université, was published in September in JAMA and paves the way for reliable diagnosis and personalized treatments.

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