REPETTO LISBOA, MARIA GABRIELA
Preferred name
REPETTO LISBOA, MARIA GABRIELA
Main Affiliation
Email
grepetto@udd.cl
ORCID
0000-0003-0120-5684
Scopus Author ID
57198456305
117 results
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Item type:Product, Dataset - Exploring the Impact of Mitonuclear Discordance on Disease in Latin American Admixed Populations(GitHUB, 2025); - Some of the metrics are blocked by yourconsent settings
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Item type:Product, Dataset - Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis(2024); - Some of the metrics are blocked by yourconsent settings
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Item type:Publication, Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome(2017)Scopus© Citations 82 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genetic testing as moral technology: Navigating legitimacy, uncertainty, and access in rare disease diagnosisGenetic testing is often portrayed as a neutral tool for clinical clarification. However, in the context of rare diseases, it plays a far more complex role in the moral, bureaucratic, and social experiences of patients and families. Drawing on qualitative research conducted in Chile, this article explores how genetic testing is not only a diagnostic resource but also a symbolic and institutional technology that shapes how care, legitimacy, and identity are negotiated across multiple domains. We analyze 11 narrative interviews with patients and family members affected by rare diseases, alongside 10 interviews with healthcare professionals, including geneticists and clinicians, and two hybrid forums. Using a grounded, interdisciplinary approach informed by Science and Technology Studies (STS) and medical sociology, we identify four key themes: (1) the moral resolution offered by diagnosis after long periods of uncertainty; (2) structural barriers to accessing testing, including social capital and institutional discretion; (3) the epistemic ambiguity of genetic information, especially in cases of inconclusive results; and (4) the mobilization of diagnoses beyond the clinic, including in education, legal systems, and reproductive decisions. Our findings suggest that genetic testing functions as a moral and classificatory technology: it produces recognition, redistributes responsibility, and serves as a resource for navigating fragmented care systems. For genetic counselors, this research offers insights into how patients and families interpret, act on, and negotiate the consequences of genetic information. Understanding the broader moral and institutional landscape in which testing occurs can enhance counseling practices, particularly in under‐resourced or structurally unequal contexts. This study contributes to growing efforts to embed genetic counseling in a wider social and ethical framework. By attending to how genetic testing is lived, contested, and deployed, we highlight the need for a counseling practice that is attuned to both genomic data and the realities of care.</jats:p>1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Polygenic scores contribution to Parkinson’s disease comorbidities(Oxford University Press (OUP), 2025); Costin LeuComorbidities are common in Parkinson’s disease and significantly impact the disease progression and management. While polygenic scores have been widely used to assess genetic risk for complex diseases, their role in comorbidity presentation in Parkinson’s disease remains unclear. This study investigates whether genetic predisposition to comorbidities, as measured by polygenic scores, differs between individuals with Parkinson’s disease and the general population and explores how genetic risk influences disease onset and sex-related differences. We analysed data from 4144 individuals with Parkinson’s disease and 370 480 individuals from the general population in the UK Biobank, focusing on four comorbidities with high-quality genome-wide association study data: Type 2 diabetes, major depressive disorder, migraine headaches and epilepsy. We first compared polygenic score distributions between individuals with Parkinson’s disease and the general population. While our findings indicate that comorbidities and polygenic risk scores do not significantly differ between individuals with Parkinson’s disease and the general population, we show an association with disease onset and sex-specific differences. Individuals with earlier disease onset (50–70 years old) had higher genetic risk for major depressive disorder (odds ratio: 2.19, P-value: 1.27 × 10⁻¹⁵) and epilepsy (odds ratio: 1.58, P-value: 0.00845). Additionally, a female participant with Parkinson’s disease exhibited higher genetic risk scores for major depressive disorder (odds ratio: 1.5, P-value: 0.0119) and migraine headaches (odds ratio: 2.1, P-value: 0.0155), while a male participant displayed higher genetic risk scores for Type 2 diabetes (odds ratio: 2.7, P-value: 2.11 × 10⁻¹⁷). Comorbidity-polygenic score did not differ between people with versus without Parkinson’s disease, yet within Parkinson’s disease, a higher genetic burden for specific comorbidities was linked to earlier onset and sex-specific presentation, implicating common variants as modifiers of clinical heterogeneity rather than the primary disease risk. These results enhance our understanding of the genetic influences shaping the broader clinical presentation of Parkinson’s disease and highlight the need for further research into the interplay between genetic risk factors, comorbidities and disease heterogeneity.3Scopus© Citations 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion(2020)2Scopus© Citations 99