Publications by authors named "Jefri Paul"
Background: The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).
Objective: The aim was to investigate the presence of RAB32 variants in a large multiethnic group of individuals affected and unaffected by PD.
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.
Background: Genetic stratification of Parkinson's disease (PD) patients facilitates gene-tailored research studies and clinical trials. The objective of this study was to describe the design of and the initial data from the Rostock International Parkinson's Disease (ROPAD) study, an epidemiological observational study aiming to genetically characterize ~10,000 participants.
Methods: Recruitment criteria included (1) clinical diagnosis of PD, (2) relative of participant with a reportable LRRK2 variant, or (3) North African Berber or Ashkenazi Jew.
Article Synopsis
- The COVID-19 pandemic necessitated extensive testing to quickly identify infected individuals, which is crucial for managing the virus and transitioning to a "New Normal."
- A comprehensive testing platform was developed that encompassed registration, sample collection, testing, and report issuance, demonstrating high sensitivity (96.8%) and specificity (100%) for detecting SARS-CoV-2 through RT-PCR.
- Over a 10-week study in northeastern Germany, approximately 18,000 tests were conducted with only five positive cases found, indicating effective preventive measures and showcasing the platform's ability to efficiently respond to testing demands.