A5086884928- Parkinson's Disease Mechanisms and Treatments
- CRISPR and Genetic Engineering
- Neurological diseases and metabolism
- Autism Spectrum Disorder Research
- Biotechnology and Related Fields
- Lysosomal Storage Disorders Research
- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
University of Lübeck
2024
Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at a global scale.
Abstract In the era of precision medicine, genetic test results have become increasingly relevant in care patients with Parkinson’s disease (PD) and their families. While large PD research consortia are performing widespread testing to accelerate discoveries, debate continues about whether, what extent, should be returned patients. Ethically, it is imperative keep participants informed, especially when findings potentially actionable. However, may not hold same standards required from...
Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at global scale. The first systematic approach to embrace PD worldwide, Michael J. Fox Foundation Global Monogenic (MJFF GMPD) Project, contacted authors publications reporting individuals carrying pathogenic variants known PD-causing genes. In contrast, the Genetics Program's (GP2)...
Abstract Background X‐linked dystonia‐parkinsonism (XDP), a neurodegenerative movement disorder endemic to the Philippines, is primarily investigated in patients from Panay Island and Greater Manila area. However, individuals residing geographically distant regions may exhibit different clinical or genetic characteristics compared those documented earlier reports. Objective The aim was investigate relationship of XDP features Mindanao cohort with modifiers age at onset (AAO) variability...