Cód. SSPA: IBiS-C-04
The Human Genetics and Reproduction group is a multidisciplinary research team primarily composed of members/experts from the Department of Maternal-Fetal Medicine, Genetics and Reproduction at the University Hospital Virgen del Rocio, a regional reference center with an extensive experience in both clinical and molecular genetics.
Our research focuses on genomic medicine and functional genomics of rare genetic diseases, with a particular interest in Inherited Retinal Diseases. We apply next-generation sequencing technologies to advance our understanding of these conditions. Additionally, our work spans reproductive medicine, fetal medicine and fetal therapy, aiming to develop innovative fetal therapy procedures and to improve reproductive health for women.
With a highly specialized clinical environment, we maintain a translational approach that bridges scientific discoveries with clinical practice. This allows us to directly implement new insights, refine genetic diagnosis for rare diseases, and enhance patient care, thereby advancing the field of personalized medicine.
Research Lines
- Hereditary retinal dystrophies
Progressive degeneration of photoreceptors; apoptosis; clinical and genetic hetereogeneity; autosomal recessive retinitis pigmentosa; RP25 locus; molecular and functional study; genetic linkage.
- Fetal medicine and therapy
Congenital anomalies, fetal surgery, EXIT (Ex utero intrapartum surgery).
- Cell therapy
Derivation of human embryonic stem cell lines from pre-embryos affected with genetic diseases obtained after preimplantational genetic diagnosis. PGD; stem cells; cell culture.
- Breast and/or ovary cancer
Hereditary cancer; epidemiological study; BRCA1; BRCA2; family studies.
Group links
- Fundación Isabel Gemio (FGEMIO-2019-01): https://www.fundacionisabelgemio.com/que-hacemos/desarrollo-de-aplicaciones-clinicas
- Foresight: https://www.xn--guillermoantiolo-foresight-seeing-ffd.com/
- Fundación ONERO: https://onero.org/
