Early career researchers share the focus of their research in these presentations from our Spring Research Update Meeting 2024.

Full abstract:

PD Frontline is a remote study, part of the RAPSODI GD longitudinal study, with the prime purpose of identifying people with Parkinson Disease (PD) and testing for changes in two PD risk factor genes: GBA1 and LRRK2.

Aims: To identify participants eligible for clinical trials and to identify new genetic variants affecting risk, treatment and clinical presentation in PD.

Recruitment: Participants self-register or are referred from NHS sites across the UK. Our sites have recruited 1081 of our total participants. Sites are responsible for identifying potential candidates and referring them to PD Frontline.

Genetics and Mutations: PD Frontline has identified over 190 GBA positive PD participants from the 1350+ genotyped since its inception, including 19 novel mutations. Of the 5300+ registered, 3900+ are active on the study. Participants who carry the GBA1 gene all receive a genetic report and a genetic counselling conversation to explain the implications of their results.

Conclusions: We offer sequencing of the whole GBA1 gene and LRRK2 G2019S variant to our cohort. Currently, we have identified 19 novel genetic variants in the GBA gene. We have successfully referred some of our eligible participants to clinical studies and will continue to identify and support new clinical trials and studies.