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The Laboratoire de Chimie et Biochimie Pharmacologiques et Toxicologiques (LCPBT) is a joint CNRS-Université de Paris research unit conducting research at the interface between chemistry and the life sciences. LCPBT researchers collaborate with clinicians at Hôpital Tenon to help them better understand certain rare diseases.

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Study of cryopyrin-associated periodic syndrome: CAPS.

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This very rare syndrome is caused by a mutation in a very important protein in our immune system: NLRP3. NLRP3 is a large protein, with several domains. Our work shows that, depending on whether the mutation is in one or another domain of NLRP3, the mechanism that causes the disease is different, and patients' symptoms are different. These advances should make it possible to diagnose certain patients more rapidly and provide personalized care in the future. What's next? Understanding how NLRP3 mutations are responsible for certain symptoms, notably deafness.

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Further information: here

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Study of the disease caused by a mutation in JAK1

JAK1 is a very important protein that enables information to circulate within the cells of the immune system. Mutations in JAK1 cause an extremely rare disease. Our work has shown that mutations in JAK1 modify the content of information transmitted in cells, as if the message were transmitted by another protein in the same family, such as JAK2. While there are several inhibitors available with varying specificity for JAK1 and JAK2, our work will help identify the most appropriate treatment for patients. What's next? Understanding why JAK1 mutations modify the information transmitted.

Further information: here

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SITRAME study

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This rare disease was only described as a clinical entity in 2022. It is characterized by skin eruptions on the trunk, associated with extreme fatigue. While the cause of this disease remains unknown, our initial work on patient cells has enabled us to identify a deregulation of the immune system, specifically at the level of response mechanisms to viral infections.

What's next? Establishing the link between anti-viral response and disease. What's next? Establishing the link between anti-viral response and disease.