Juan Rodriguez
E-mail: juan.rodriguez@ki.se
Visiting address: Nobels väg 12a, 17165 Solna
Postal address: C8 Medicinsk epidemiologi och biostatistik, C8 MEB Czene, 171 77 Stockholm
About me
- My background is in molecular biology and genetics. I received my PhD degree in Medical Science in 2020 from Gothenburg University. The thesis focused on the comprehension of the mechanisms by which some apoptotic proteins are crucial for brain damage after asphyxia, and it showed a new therapeutic target for improving outcome after perinatal brain injury. Previously, I worked investigating novel molecular and genetic mechanisms underlying a neurodevelopmental disorder (Tourette syndrome). My research interests are mainly focused on genetics, molecular biology, and bioinformatics, applied to the study or treatment of human diseases.
My current role is to perform a broad range of analyses of molecular and clinical data on large cohorts, using bioinformatics tools (R Studio and Jupyter Notebook). The research aims at acquiring a comprehensive picture of breast cancer risk and prognosis, studying the association between inherited genetic factors and prognosis. In addition, I am also studying blood-bound molecular markers (miRNA and DNA methylation) and assessing the impact of these markers on the risk of aggressive breast cancer.
Research
- My main role is to perform a broad range of analyses of molecular and
clinical data on large cohorts, using bioinformatics tools (R Studio and
Jupyter Notebook). The research aims at acquiring a comprehensive picture of
breast cancer risk and prognosis, studying the association between inherited
genetic factors and prognosis. Currently, women at high-risk of breast cancer
are primarily identified on the basis of family history and mutation
screening of the BRCA1 and BRCA2 genes. Research over the past decade has,
however, identified many additional variants associated with breast cancer.
These include rare variants in so-called non-BRCA1/2 breast cancer genes,
which confer a range of risks from “moderate” to “high”. In addition,
more than 300 common variants (SNPs) have been also identified using GWAS
studies.
We have examined the combined impact of common and rare variants on tumor
characteristics, breast cancer survival, and risk of interval breast cancer
(an aggressive subgroup of breast cancer that develops within the time
interval between screening examinations). Multinomial logistic regression was
used to assess the associations between mutations in 35 known and suspected
breast cancer predisposition genes included in commercial panels or polygenic
risk score (PRS) using more than 300 SNPs, tumor characteristics and interval
cancer status. Breast cancer-specific survival was estimated using Cox
regression models.
In addition, we are also studying blood-bound molecular markers using
multi-omics approaches and assessing the impact of these markers on the risk
of aggressive breast cancer. The chosen molecular markers have been miRNA and
DNA methylation, from plasma and blood samples respectively. For around 1, 000
women, we will use high-throughput methods to measure a broad selection of
multiple molecular markers from blood collected at baseline.
Articles
- Article: JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2024;116(6):911-919
- Article: JAMA ONCOLOGY. 2024;10(3):372-379
- Article: JOURNAL OF CELLULAR AND MOLECULAR MEDICINE. 2020;24(24):14571-14582
- Article: NEUROPHARMACOLOGY. 2020;171:108088
- Article: CELL DEATH AND DISEASE. 2020;11(1):77
- Article: FRONTIERS IN CELLULAR NEUROSCIENCE. 2019;13:241
- Article: CELL DEATH AND DISEASE. 2018;10(1):3
- Article: DEVELOPMENTAL NEUROSCIENCE. 2018;40(2):120-133
- Article: CELL DEATH AND DISEASE. 2017;8(5):e2781
- Article: CELL DEATH AND DISEASE. 2017;8(3):e2694
- Article: FRONTIERS IN NEUROSCIENCE. 2016;10:384
All other publications
- Preprint: MEDRXIV. 2024;MEDRXIV
- Review: NEURAL REGENERATION RESEARCH. 2021;16(2):205-213