Research groups join forces to study the genetics of Parkinson’s disease

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While the aetiology of Parkinson’s disease is not fully understood, ageing, environmental factors and genetics play a role.

The two Scottish research teams will combine their complementary expertise in functional genomics and in drug development to investigate variants in three genes; GBA1, PRKN, and LRRK2 that are known to be major risk factors for Parkinson’s disease, found in up to 10% of people living with the condition, depending on their ancestry. The Michael J. Fox Foundation for Parkinson’s Research (MJFF) is funding the study.

The team will use deep mutational scanning to systematically measure the functional consequence of all single amino acid variants in GBA1, PRKN and LRRK2 in relevant human cell lines.

Advanced research infrastructure at the Institute of Genetics and Cancer - including on-site flow cytometry, microscopy and sequencing facilities – will support the study, in addition to local expertise in computational structural biology from the Joe Marsh Research Group, also at the MRC Human Genetics Unit.

The results of this work will facilitate diagnosis and drug screening in the hope of accelerating advances in treatments for people living with Parkinson’s disease.

The project will create three two-year postdoctoral research positions to support the study. Two of these will be with the Kudla lab at the MRC Human Genetics Unit and will be responsible for cell line generation and functional assays with GBA1, Parkin and LRRK2, and for performing mutagenesis, next generation sequencing and data analysis.

We are delighted to see this exciting collaboration between two of our MRC units in Scotland, which brings their complementary expertise together to tease apart the complex interplay of genes and other factors that lead to Parkinson’s disease. This kind of team science will help us better understand disease mechanisms and lay the foundation for new treatments of challenging conditions such as Parkinson’s disease.

Dr Siv Vingill

The students and postdocs in my team, along with our colleagues at the University of Dundee, have worked hard on developing a molecular toolkit to measure the effects of genetic variation at scale. We are excited to join our forces to help provide more accurate genetic diagnosis to people living with Parkinson's.

Professor Grzegorz Kudla

Related Links

• Grzegorz Kudla Research Group