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Funded Studies

Genotyping of Lymphoblastoid Cell Lines from Familial and Sporadic Parkinson’s Disease

This grant builds upon the research from a prior grant: Insights into LRRK2 Kinase Inhibitors

Study Rationale:
Our previous studies show deficits in a cell activity called centrosome cohesion in cells from people with Parkinson’s disease (PD) and a LRRK2 mutation. These deficits are reverted by LRRK2 kinase inhibitors, a therapeutic approach already in human studies. And we found similar deficits in cells from a subset of other people with PD (familial and sporadic or cause unknown).

We hypothesize that the centrosomal changes observed in cells from a subset of familial and sporadic PD patients may be due to alterations in certain genes.

Study Design:
We will sequence genes in the cells obtained from the sporadic and familial PD patients to determine variants or mutations in certain genes that may underlie the cellular response.

Impact on Diagnosis/Treatment of Parkinson’s Disease:
Studies of this type may identify additional gene(s) implicated in the regulation of LRRK2 kinase activity and thus the centrosomal changes. Additionally, this centrosomal readout may be able to stratify PD patients who may benefit from LRRK2 inhibitors.

Next Steps for Development:
If successful, we would work to corroborate the validity of this assay.


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