Modeling human diseases in C. elegans

Summary

We use the model organism Caernorhabditis elegans for modeling human diseases. Our group has investigated genes involved in RNA processing that are altered in rare diseases or cancer. Thanks to CRISPR technologies, we are moving towards personalized medicine by mimicking human mutations in C. elegans. Moreover, we are taking advantages of the C. elegans feasibility for CRISPR genome editing to develop more efficient and versatile methodologies to edit genetic loci.

34 Publications

Strategic lines

Selected Publications

Serrano,I;Luque,A;Ruiz Cerulla,A;Navas,S;Blom,AM;de Córdoba,SR;Fernández,FJ et al, C4BP(ß-)-mediated immunomodulation attenuates inflammation in DSS-induced murine colitis and in myeloid cells from IBD patients, Pharmacol. Res., 2023;197106948-106948, doi:10.1016/j.phrs.2023.106948
Vicencio J, Sánchez Bolaños C, Moreno Sánchez I, Brena D, Vejnar CE, Kukhtar D, Ruiz López M, Cots Ponjoan M, Rubio A, Melero NR, Crespo Cuadrado J, Carolis C, Pérez Pulido AJ, Giráldez AJ, Kleinstiver BP, Cerón J, Moreno Mateos MA. Genome editing in animals with minimal PAM CRISPR-Cas9 enzymes. Nat. Commun. 2022;13(1):2601-2601. doi:10.1038/s41467-022-30228-4.
Martínez Fernández C, Bergamino M, Schiavi A, Brena D, Ventura N, Honnen S, Villanueva A, Nadal E, Cerón J. Insights into cisplatin-induced neurotoxicity and mitochondrial dysfunction in Caenorhabditis elegans. Dis. Model. Mech. 2022;15(3):doi:10.1242/dmm.049161.
Jungtrakoon Thamtarana P, Marucci A, Pannone L, Bonnefond A, Pezzilli S, Biagini T, Buranasupkajorn P, Hastings T, Mendonca C, Marselli L, Di Paola R, Abubakar Z, Mercuri L, Alberico F, Flex E, Ceròn J, Porta Riva M, Ludovico O, Carella M, Martinelli S, Marchetti P, Mazza T, Froguel P, Trischitta V, Doria A, Prudente S. Gain of function of Malate Dehydrogenase 2 (MDH2) and familial hyperglycemia. J. Clin. Endocrinol. Metab. 2022;107(3):668-684. doi:10.1210/clinem/dgab790.
Saura Esteller J, Sanchez Vera I, Nunez Vazquez S, Jabalquinto Carrasco J, Cosialls AM, Mendive Tapia L, Kukhtar D, Martinez Bueno MD, Lavilla R, Ceron J, Artal Sanz M, Pons G, Iglesias Serret D, Gil J. Fluorizoline-induced apoptosis requires prohibitins in nematodes and human cells. Apoptosis. 2021;26(1-2):83-95. doi:10.1007/s10495-020-01651-z.

Selected Projects

21FIS019. Caracterización, potencial diagnóstico y terapeútico de un nuevo inmunomodulador biológico para el tratamiento de enfermedades autoinmunes. Instituto de Salud Carlos III (ISCIII). Budget: 171.820€. 2021-2023. PI: Aran Perramon, Josep Mª.
AGA21005. PROGRAMA BEATRIU DE PINOS 2020. AGENCIA GESTIO D'AJUTS UNIV. I RECERCA. Budget: 144.300€. 2022-2025. PI: Aran Perramon, Josep Mª.
21FIS011. Desarrollo de un nuevo biológico restaurador de la tolerancia inmunitaria. Aplicación al tratamiento de la enfermedad inflamatoria intestinal. Instituto de Salud Carlos III (ISCIII). Budget: 115.500€. 2021-2023. PI: Aran Perramon, Josep Mª.
FIS21142. CONTRATOS SARA BORRELL. Instituto de Salud Carlos III (ISCIII). Budget: 95.000€. 2022-2022. PI: Aran Perramon, Josep Mª.
AGA22021. PurPose Biotherapeutics: first-in-class metabolic modulators against autoimmune diseases. AGENCIA GESTIO D'AJUTS UNIV. I RECERCA. Budget: 84.000,06€. 2022-2024. PI: Aran Perramon, Josep Mª.