Our group's research focuses on the study of the aetiology of several genetic disorders. We aim to achieve more accurate diagnosis which will allow gain further knowledge in their physiopathology, prevention and development of potential specific therapies and therefore improve patient's quality of life and their families.
One of the main characteristics of our research group is our close collaboration with other research groups at Biocruces Health Research Institute, in particular the Stem Cell Research Group, as well as with other clinical investigators in the field of Gynaecology, Paediatric Oncology and Neurology.
The research lines developed are:
- Analysis of the genetic aetiology of patients with intellectual disability (of currently unknown origin), including Rett Syndrome spectrum and its variants, autism spectrum disorder, potential cases of X-chromosome linked intellectual disability and polymalformative syndromes associated or not with intellectual disability and/or with neurological symptoms and other congenital anomalies.
- Research on the molecular basis of the risk of suffering from associated pathologies, such as FXTAS and FXPOI, in Fragile X syndrome carriers. Although the number of cases is low, the cause is not known yet.
The main objective of the group is to identify the genetic anomalies which may explain the broad familial history of cancer in some patients, in those cases when the search of mutations in the already described susceptibility genes did not provided any information. Moreover, we aim to identify other types of cancer which may be related to breast/ovary cancer's and non-polyposis colorectal cancer susceptibility genes.
Novel therapies for Osteogenesis imperfecta
Our main goal is to develop alternative treatments for children with severe osteogenesis imperfecta due to mutations in the COL1A1/COL1A2 genes, in order to increase the synthesis of normal collagen and mitigate the natural history of this disease, which is characterized by many spontaneous bond fractures (or even minor traumas), bone deformity and issues of growth.
Life & Medical Sciences
- Biosciences & Health
- Intellectual disability
- Hereditary Cancer
- Novel therapies for Osteogenesis imperfecta