Publications by authors named "I Mata"
Article Synopsis
- Researchers have advanced understanding of Parkinson's disease genetics through genome-wide association studies (GWAS) but have found that many genetic factors still contribute to its heritability, potentially due to interactions between variants (epistasis).
- A new screening method, VARI3, was developed to investigate these interactions using data from numerous cohorts, successfully identifying notable variant interactions in genes like SNCA, MAPT, and WNT3.
- The study demonstrated that these epistatic signals were present across different ethnic backgrounds, including European and Native American ancestries, and linked to important biological functions related to Parkinson's disease risk.
Synovial haemangioma is a rare benign entity, most common in children and adolescents. These tumours can extensively infiltrate joint structures and periarticular soft tissues, making management challenging. Magnetic resonance imaging (MRI) has a key role in diagnosis and therapeutic planning.
View Article and Find Full Text PDFIntroduction: The first-line treatment for Parkinson's disease (PD) involves dopamine-replacement therapies; however, significant variability exists in patient responses. Pharmacogenomics has been explored as a potential approach to understanding and predicting treatment outcomes. This review aims to evaluate the current state of knowledge regarding the role of pharmacogenomics in PD, focusing on identifying challenges and proposing future directions.
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- Latin Americans are often overlooked in genetic studies, which can widen gaps in personalized medicine due to the challenges of accessing genetic data and consent processes.
- The Genetics of Latin American Diversity (GLAD) Project compiles genetic information from over 53,000 individuals across various regions to explore diverse ancestry and gene flow in the Americas.
- GLAD includes a tool called GLAD-match to align external genetic samples with its database while protecting individual privacy, thus supporting more inclusive genomic research and enhancing personalized medicine for Latin Americans.
Genetic testing for Parkinson's disease (PD) is infrequently performed due to perceptions of low utility. We investigated the personal utility in PD GENEration and how results lead to enrollment in additional research studies. Participants (n = 972) underwent genetic testing, results disclosure, genetic counseling, and completed a survey examining the perceived personal utility of their results and interest in participating in additional studies.
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