Team Rio

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PD Functional Genomics | 2020

Dissecting Genetic Interactions of Parkinson’s Disease-associated Risk Loci

Study Rationale: Parkinson’s disease can have multiple complex causes, including genetic and environmental, that are not fully understood. Team Rio will combine modern genetic and human stem cell-based approaches to determine how heritable genetic changes affect Parkinson’s disease predisposition. By identifying how even small genetic changes can compound the risk of developing Parkinson’s disease, Team Rio hopes to identify new ways to detect and treat the disease in the future.

Hypothesis: Team Rio hypothesizes that combining complex human cell culture models such as 3-dimensional brain organoids with sophisticated genome-scale functional analysis will allow the team to elucidate how diverse genetic factors interact and contribute to the risk of developing Parkinson’s disease, thereby informing the development of early detection diagnostics and advanced treatment options.

Study Design: Team Rio will genetically engineer human embryonic stem cells to model the genetic alterations known to increase risk for Parkinson’s disease and turn those cells into disease-relevant cell types such as dopamine neurons. By profiling the gene expression changes caused by these known Parkinson’s disease risk variants, the team will decipher the key molecular signatures that contribute to Parkinson’s disease. Once identified, the team will confirm these genetic signatures in patient samples and validate their effects in animal models.

Impact on Diagnosis/Treatment of Parkinson’s Disease: Elucidating how Parkinson’s disease genetic risk variants affect cell biology has promise to identify disease-specific biomarkers and novel treatment options.

Leadership
Donald Rio, PhD
COORDINATING LEAD PI

Donald Rio, PhD

University of California at Berkeley
Dirk Hockemeyer, PhD
CO-INVESTIGATOR

Dirk Hockemeyer, PhD

University of California at Berkeley
Frank Soldner, MD
CO-INVESTIGATOR

Frank Soldner, MD

Albert Einstein College of Medicine
Helen Bateup, PhD
CO-INVESTIGATOR

Helen Bateup, PhD

University of California at Berkeley
Ezgi Booth, PhD
Project Manager

Ezgi Booth, PhD

University of California at Berkeley

Project Outcomes

This project uses state-of-the-art functional genomics approaches to identify gene expression and RNA splicing signatures that may lead to the development of novel pharmacological interventions for Parkinson’s disease or biomarkers for early diagnosis and disease progression. View Team Outcomes.

Team Outputs

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Overall Contributions

Here is an overview of how this team’s article findings have contributed to the PD field as of November 2023. There are two different categorizations of these contributions – one by impact to the PD community and a second by scientific theme.

Impact

Theme

Featured Output

Below is an example of a research output from the team that contributes to the ASAP mission of accelerating discoveries for PD.

Highly efficient generation of isogenic pluripotent stem cell models using prime editing

Team Rio has introduced the technology and resources required for the generation of mutated hiPSC lines. Although early in inception for the phenotypic analyses, the study and the associated cell lines represent important steps to understanding the genetic pathways of PD, and support clear experimental work to resolve molecular features of disease.

Team Accolades

Other Team Activities

  • Interest Groups: GWAS Functional Validation – Don Rio (Past Chair)

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