Presentation

STING-mediated autoinflammation

Marie Louis Frémond

Contact

I am a Paediatric Immunologist and Rheumatologist at the Necker-Imagine campus in Paris, France, where I am a clinical expert in autoinflammatory disorders. My research focuses on the clinical and molecular characterisation of Mendelian type I interferonopathies, which are a group of inborn errors of immunity characterised by constitutive type I interferon signalling.

As a clinician-scientist, I aim to bridge the gap between genetic discovery and clinical application in order to improve the diagnosis, prognosis and treatment of these severe conditions. I am particularly interested in SAVI and COPA syndrome, two interferonopathies characterised by significant clinical and pathophysiological overlap and associated with severe profibrotic lung inflammation.

My current research team is dedicated to deciphering the mechanisms of pulmonary inflammation in SAVI and COPA syndrome, and to investigating the clinical variability and non-penetrance observed in COPA syndrome. By identifying potential novel biomarkers and targeted therapies, we hope to advance precision medicine for rare interferonopathies, while also providing insights that are relevant to more common inflammatory diseases.

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