Publications by authors named "I De la Mata"

The Research Program () seeks to accelerate biomedical research and address the underrepresentation of minorities by recruiting over one million ethnically diverse participants across the United States. A key question is how self-identification with discrete, predefined race and ethnicity categories compares to genetic diversity at continental and subcontinental levels. To contextualize the genetic diversity in , we analyzed ~2 million common variants from 230,016 unrelated whole genomes using classical population genetics methods, alongside reference panels such as the 1000 Genomes Project, Human Genome Diversity Project, and Simons Genome Diversity Project.

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Despite significant progress in understanding the factors influencing cognitive function in Parkinson's disease (PD), there is a notable gap in data representation for the Latinx population. This study aims to evaluate the contributors to and disparities in cognitive performance among Latinx patients with PD. A retrospective analysis was conducted based on cross-sectional data encompassing demographic, environmental, motor, and non-motor disease characteristics from the Latin American Research Consortium on the Genetics of PD (LARGE-PD) and the Parkinson's Progression Markers Initiative (PPMI) cohorts.

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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.
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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.

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Introduction: 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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