Background pattern of a brain with neural connections

Team Rio

Dissecting Genetic Interactions of Parkinson’s disease associated Risk Loci

2020-Present

We hypothesize that combining complex human cell culture models such as 3-dimensional brain organoids with sophisticated genome-scale functional analysis will allow us 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. We 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, we will decipher the key molecular signatures that contribute to Parkinson’s disease. Once identified, we will confirm these genetic signatures in patient samples and validate their effects in animal models.

Tags
iPSC Organoids Stem cells – embryonic

Leadership

Donald Rio

Donald Rio

Lead PI (Core Leadership)

Helen Bateup

Helen Bateup

Co-PI (Core Leadership)

Dirk Hockemeyer

Dirk Hockemeyer

Co-PI (Core Leadership)

Frank Soldner

Frank Soldner

Co-PI (Core Leadership)

Project Highlights

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

The recent development of prime editing (PE) genome engineering technologies has the potential to significantly simplify the generation of human pluripotent stem cell (hPSC)-based disease models. PE is a multi-component editing system that uses a Cas9-nickase fused to a reverse transcriptase (nCas9-RT) and an extended PE guide RNA (pegRNA). Once reverse transcribed, the pegRNA extension functions as a repair template...

Contributions

Here is an overview of how this team’s article findings have contributed to the PD field as of June 2025. There are two different categorizations of these contributions – one by impact to the PD community and a second by scientific category.

Impact

Category

Accolades

Members of the team have been recognized for their contributions.

Team Rio

Network Spotlights

Hanqin Li, Oriol Busquets Figueras, Devin Snyder

In the News

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