Micro e-Learning Program

The Clinical series explores the key features of Parkinson’s disease, with a focus on clinical diagnosis, symptoms, progression, and management. These videos aim to deepen understanding of how #PD presents across diverse populations and highlight the role of clinical phenotyping in research. This series equips learners with the tools to connect clinical observations to broader research and treatment strategies.

Overview on PD Treatments

Explore Parkinson’s disease treatments, including oral medications like Levodopa, and device-aided therapies such as deep brain stimulation and continuous medication infusions. Learn the importance of a tailored, multidisciplinary approach to managing motor and non-motor symptoms and hear about ongoing research into disease-modifying interventions.

Cognitive Assessment in PD

Gain an understanding of cognitive impairment in Parkinson’s disease along with several assessment tools used for diagnosing #dementia and mild cognitive impairment. This session emphasizes the importance of selecting culturally appropriate tools and considering educational and language biases to ensure accurate cognitive assessments in diverse populations.

Motor Progression Scores

This video discusses the importance of motor progression scores in Parkinson’s disease, focusing on the MDS-UPDRS and Hoehn & Yahr scales for assessing motor symptoms and disease progression. It also highlights the challenges and potential pitfalls in using these scores.

Neuroimaging for Parkinson’s Disease Diagnosis

Learn about the role of neuroimaging in Parkinson’s disease diagnosis, including how MRI and molecular imaging techniques like PET and SPECT help differentiate Parkinson’s disease from other conditions, assess disease progression, and detect #neurodegeneration.

The Genetics series simplifies the complexities of Parkinson’s disease genetics, covering topics like heritability, familial versus sporadic cases, and the impact of known PD genetic risk factors. It also explores genome-wide association studies (GWAS) and their role in identifying new therapeutic targets. This series highlights the importance of integrating genetics into PD research to better understand disease mechanisms.

Variant Prioritization

Delve into the process of genetic variant prioritization and classification and learn how to identify relevant variants for Parkinson’s disease by using various databases and bioinformatic tools. This session also highlights the ACMG guidelines for classifying variants into categories such as benign, pathogenic, and VUS, emphasizing the importance of careful interpretation and ongoing reclassification.

Exploring the Association Between MAPT H1/H2 and Parkinson’s Disease

This video explores the connection between the MAPT H1 and H2 haplotypes and Parkinson’s disease, highlighting how the H1 haplotype is associated with an increased risk of the disease and specific motor phenotypes. It also discusses how ethnicity may influence the strength of this association, as inconsistent results have been observed across different populations.

LRRK2

Explore the role of the LRRK2 gene as a genetic risk factor for Parkinson’s disease, its protein’s functions, and the impact of mutations, particularly the G2019S variant. This session covers ongoing research on targeted therapies that aim to inhibit LRRK2 activity or downregulate the gene, while addressing challenges like variable mutation penetrance and potential side effects.

PD Risk Factor: GBA1

Learn about GBA1 as a major genetic risk factor for Parkinson’s disease. GBA1 mutations cause protein misfolding, which disrupts cellular pathways and contributes to #neurodegeneration. Affected individuals experience earlier onset, faster progression, and more cognitive decline, highlighting the need for targeted therapeutic strategies.

PARK2

This video covers the PARK2 gene, a leading cause of early-onset Parkinson’s disease, detailing its various mutations. It also explains the function of the Parkin protein in maintaining mitochondrial quality, the clinical symptoms of PARK2-associated Parkinson’s, and how mutations may result from independent events or founder effects in certain populations.

GWAS of Parkinson’s Disease Risk, Age at Onset and Disease Progression

Learn about the use of GWAS to identify genetic factors associated with Parkinson’s disease risk, age at onset, and disease progression. This session highlights recent GWAS findings across different populations and discusses how these studies contribute to a better understanding of the disease, including novel risk loci and potential therapeutic targets.

The Data Analysis series introduces key methodologies and tools for analyzing #PD-related datasets. Each video is designed to empower learners to confidently analyze data and apply these methods to their Parkinson’s disease research.

Cluster Plots: Illumina Plot Processing and Viewing

Learn about the use of cluster plots to visualize sample genotypes, assess genotyping quality, and detect copy number variations. This session covers how to view these plots using the GP2 Cohort Browser and how to create custom plots using Python for further analysis.

Power Calculations

Explore the importance of power calculations in genetic analyses of #Parkinsons, including hypothesis testing, error types, and factors like alpha, effect size, and sample size that influence statistical power.

CNVs Through Genotyping Data

This video explains how CNVs are analyzed in Parkinson’s disease using genotyping data, focusing on the B allele frequency and log R ratio to identify potential CNVs. It highlights the advantages and limitations of this method, including its scalability for large datasets and the need for further validation using techniques like MLPA or long read sequencing.

Mitochondrial DNA Analysis

This video explores two primary approaches to mitochondrial DNA analysis in the context of Parkinson’s disease: variant calling using the Mutect2 tool and haplogroup analysis using Haplogrep. It also highlights the unique challenges of mitochondrial DNA, including its circular structure and high mutation rates, while discussing the limitations of these analytical methods.

Local Ancestry

Explore the concepts of genetic and local ancestry to understand how local ancestry can be used in genotype-phenotype studies to enhance the detection of ancestry-specific risk loci. This session highlights methods like admixture mapping and Tractor, which improve the power of genetic studies by accounting for population diversity in disease research.

The GP2 Resources series explores the tools, data, and collaborative opportunities provided by GP2. It offers step-by-step guidance on accessing tiered data and highlights initiatives aimed at supporting researchers around the world. This series underlines GP2’s dedication to promoting access to resources and building partnerships that accelerate progress in Parkinson’s disease research.

Data and Code Dissemination: GitHub and Zenodo

Learn how you can use  platforms like GitHub and Zenodo for version control and making code publicly accessible and citable. These tools play a critical role in ensuring transparency, reproducibility, and collaboration, while also adhering to the guidelines of GP2 and ASAP.