Publications by authors named "A F Schumacher-Schuh"
Background And Objectives: In the era of precision medicine, genetic test results have become increasingly relevant in the care of patients with Parkinson disease (PD). While large research consortia are performing widespread research genetic testing to accelerate discoveries, debate continues about whether, and to what extent, the results should be returned to patients. Ethically, it is imperative to keep participants informed, especially when findings are potentially actionable.
View Article and Find Full Text PDFThe age-standardized prevalence of Parkinson's disease (PD) has increased substantially over the years and is expected to increase further. This emphasizes the need to identify modifiable risk factors of PD, which could form a logical entry point for the prevention of PD. The World Health Organization (WHO) has recommended reducing exposure to specific environmental factors that have been reported to be associated with PD, in particular pesticides, trichloroethylene (TCE), and air pollution.
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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.
Article Synopsis
- The study examines how recent updates in Alzheimer's disease diagnostic guidelines from NIA-AA and IWG impact clinical diagnoses among cognitively unimpaired and impaired individuals.
- It analyzed clinical and biomarker data from 1,195 participants, noting differences in diagnostic labels assigned under various guidelines and the frequency of discordant diagnoses among them.
- The findings revealed significant variance in predictive value for cognitive impairment across different diagnostic frameworks, with older guidelines showing a clearer correlation than some of the more recent ones.
Article Synopsis
- Current estimates of genetic variants linked to Parkinson's disease (PD) show limitations and biases across different populations, complicating patient recruitment for clinical trials focused on genetic therapies.
- The Rostock Parkinson's disease (ROPAD) study analyzes data from 12,580 PD patients across 16 countries, revealing that 14.8% had a genetic test positive for PD-related variants, particularly in specific genes like GBA1 and LRRK2.
- Findings indicate higher positivity rates in patients with earlier onset (age ≤ 50) or a positive family history, emphasizing the need for more extensive genetic investigation to improve patient stratification for future clinical trials.