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Towards a complete model of the molecular network disrupted in Fanconi anaemia
15th National Programme for the allocation of Research Grants for Life and Matter Sciences
Rare diseases
Research Centre or Institution : Instituto Catalán de Oncología. Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.
Abstract
A number of new components of this pathway have been identified by mass screening of physical interactions between proteins. The characterisation of these components in different cell models has revealed their role in repairing DNA damage by homologous recombination. At genetic level, common variants in this gene are associated with or modify the risk of breast cancer. Taken together, these results have been submitted for publication. Additionally, through international collaborations, the role of these new components is being genetically evaluated in patients diagnosed with Fanconi anaemia but without a known complementation group.
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30
Jan
2020
International Symposium Understanding and reprogramming developmental visual disorders: from anophthalmia to cortical impairments Madrid, Thursday and Friday, 30 and 31 January 2020, 9:30 hours
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8
Apr
2024
Panel Discussion Mundo de las prótesis, los nuevos materiales, sus complicaciones y su futuro Madrid , Lunes, 8 de abril 2024. 17.00 horas
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23
Apr
2024
Session Situación actual de las Enfermedades Raras en España Madrid, Martes, 23 de abril de 2024, 10:00 horas
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- Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation 2020 Senior Researcher : Pedro Redondo Bellón Research Centre or Institution : Clínica Universidad de Navarra. Pamplona
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