Our focus over the last 25 years has been identifying genes, or more accurately genetic variants, which cause Parkinson’s disease (PD). This has been productive leading to the identification of major genes which cause inherited PD, such as alpha-synuclein and LRRK2, and 90 areas of the genome (loci) which are associated with PD – that slightly increases the risk of developing the disease in genome wide association studies (GWAS). The identification of rare variants in alpha-synuclein and LRRK2 has triggered intense work on the biology of PD, and now, the therapeutic trials directed towards th ..read more

In our last blog post, we gave an introduction to GWAS, including statistical formulae, workflows, and examples from the most recent Parkinson’s disease GWAS. Now we want to provide you with additional insights and tips for running your own GWAS. Quality control and imputation processes  High quality genotypes (non-palindromic, i.e., no A/T, G/C if possible, with a high Illumina gentrain score indicating cluster quality) with low missingness ( < 1% per sample and per SNP is preferred). Generally focus on common, minor allele frequency > 1%, any less and hope the genotype clusters ..read more

The Global Parkinson’s Genetics Program (GP2) and Accelerating Medicines Partnership: Parkinson’s Disease (AMP PD) have partnered to be your one-stop shop for Parkinson’s disease genetic (GP2) and genomic (AMP PD) data that will speed your discovery of novel drug targets and biomarkers to accelerate generation of new medicines for Parkinson’s. We are adding collaborative cloud-based computing to connect these two massive databases. We are providing a single safe and easy access point to a massive amount of data stored in the cloud, using Terra as the backbone for data analysis, data storage ..read more

In broad terms, compliance means conforming to the laws and regulations which govern research with human subjects. Most of these rules and regulations are based on ethical principles. Additional regulations regarding privacy and data protection have been set out by government organizations. As researchers, we must do our best to perform meaningful research, minimize risk for our study participants, and ensure that our study participants understand and consent to the research. What is informed consent? Informed consent is the process by which we ensure that patients and potential research part ..read more

Understanding GWAS … or what is up with all those small odds ratios? The following is a gross oversimplification of GWAS studies and may include well meaning sarcasm. What can Genome-Wide Association Studies (GWAS) tell us about disease? Why test over one million independent features of the genome and endure serious multiple testing abuse? The answer is pretty simple, for two very simple reasons. First, every candidate associated region of genes (a.k.a. the locus) broadens the scope of our knowledge about a disease. Secondly, all of those cumulatively small effects you observe, each giving a ..read more

June 1996, Imperial Palace, Vienna – the venue of the Annual World Congress of the International Parkinson and Movement Disorder Society. Professor L. Golbe presents photographs of the beautiful Campania region in Southern Italy to an astounded audience, where he and his colleagues have just identified a large pedigree with numerous members afflicted with Parkinson’s disease (PD) – the so-called “Contursi kindred”. At a time when Parkinson’s disease was mostly viewed as a textbook example of an environmentally caused disease, the idea of Parkinson’s being genetic in origin was simply revoluti ..read more

I’ve always had a very vivid imagination. As a kid I used to stare at my hand and squint deep down into the cracks that line my skin to see worlds teaming with alien life. I’d picture whole civilizations living out their days, unaware their entire reality was contained in a sliver of my skin and that everything they did was contributing to systems that allowed me to be. Little did I know I wasn’t that far from the truth.  Within each of us is a symphony of life, though much more complex and dynamic than anything I could have dreamed. We are a finely tuned array of inter-related biologica ..read more

Open science reveals the value of all stakeholders Open science provides the best return on resource investment Open science facilitates big discoveries The fundamental promise of scientific research is to make the unknown known. Historically, research has mostly been conducted by scientists working alone or in small teams to closely study a specific question. This archetype is so pervasive that even cartoonists conjure a single person, staring intently into a microscope. This model illustrates how many people think about science: propose a question, study it closely, then share what you fi ..read more

Backed by a long-term commitment from the Sergey Brin Family Foundation, ASAP’s mandate is to foster collaboration and to direct resources toward better understanding the roots of Parkinson’s disease, with the goal of supporting downstream translational efforts. ASAP is focusing its research efforts within three broad thematic areas, including 1) the biology of PD-associated genetics, 2) neuro-immune interactions, and 3) circuitry & brain-body interactions. The effort will also investigate the pre-symptomatic development of the disease across all three of these research domains in an effo ..read more

At the heart of GP2 is the creation of a resource that will benefit the global Parkinson’s disease (PD) research community in its quest to improve understanding and find better treatments. As the first project funded by Aligning Science Across Parkinson’s (ASAP), we aim to uphold the guiding principles of open science and data accessibility. These aren’t simply hopes, but goals requiring active promotion and measurement of success. Training is a vital element of GP2. So much so, a working group is dedicated to Training, Networking, and Communication (TNC for short). Our group’s remit is wide ..read more