14h - Combined use of the nematode C. elegans and murine intestinal organoids to study Microvillous Inclusion Disease,
Dr. Aurélien Bidaud-Meynard, Rennes, laureate.
Use of a model organism, an advanced gut model close to the human one, and super-resolution imaging to decipher the mechanisms of the rare disease of microvillous inclusions.
2:30 pm - Improvement of epidermal coverage in ACS patients with severe skin erosions by PRIMA-1MET / APR-246,
Pr Daniel Aberdam, Paris, accompanied proof of concept.
Repositioning of an anti-tumor compound to treat recurrent skin erosions in patients with ectodermal dysplasia syndrome; proof of principle validated on patient-derived iPSc and primary keratinocytes; new formulation of the compound for local application and daily treatment.
15:00 - RNA interference therapy for patients with hereditary amyloidosis,
Pr David Adams, Paris.
Use of RNA interference in the treatment of hereditary amyloidosis due to a transthyretin mutation, a rare systemic disease of adults, results of clinical trials.
15:30 - Genome editing for myotonic dystrophy type 1,
Dr Ana Buj Bello, Paris.
Use of genome editing to correct genetic defects affecting the musculature. First proof of concept of a CRISPR-Cas9 approach in a cell and mouse model of Steinert's myotonic dystrophy, the most common neuromuscular disease in adults.
16:00 - Identification of a new therapeutic target to control inflammation and interferons: applications in auto-inflammatory and auto-immune diseases,
Dr Jean-Philippe Herbeuval, Paris, proof of concept accompanied.
Discovery of a novel biological function of the chemokine receptor CXCR4 in the modulation of pro-inflammatory cytokine and interferon production. Demonstrated efficacy of a new class of anti-inflammatory and anti-interferon molecules in a lupus mouse model.
16h30 - Rare disease: STING (SAVI) and Covid-19 associated vasculopathy in children
Dr Frédéric Rieux-Laucat, Paris.
Leveraging existing knowledge of a rare disease, SAVI, childhood vasculopathy with STING-associated lung disease, to help better control the severe forms of Covid-19, which share common features. Very fine characterization of the immune cells involved in the response that develops in patients in order to establish a signature of the deregulated pathways and develop specific treatments.
Moderated by Pr Daniel Scherman, Director of the Rare Diseases Foundation