Objective: To develop a clinical and genetic repository of all patients with Parkinson’s disease at The University of Pennsylvania Parkinson’s Disease and Movement Disorders Center (PDMDC) and to assess patients’ interest in pursuing clinical genetic testing.

Background: Parkinson’s disease (PD) is diagnosed clinically, based on symptoms of bradykinesia, tremor, and rigidity. Pathological degradation of nigrostriatal dopaminergic neurons and aggregation of misfolded alpha-synuclein in neurons accompanies the clinical syndrome. Variability in the clinical characteristics and disease course, and a high degree of non-PD concomitant pathology are common. Genetic and molecular characterization of PD patients may improve our diagnostic approach and will inform the development of disease modifying therapies targeting biomarker-defined groups.

Method: We performed an inception cohort study of participants with a clinical diagnosis of PD by approaching every patient with PD at the PDMDC. Each subject had blood collected and clinical questionnaires were completed. Plasma and DNA were banked for each subject. Each subject was asked their interest in pursuing clinical genetic testing and given the option to allow recontact in the future if they qualify for additional studies based on their biomarker results.

Results: A target of 2000 established patients will be asked to participate in the Molecular Integration in Neurological Diagnosis (MIND) study over an 18-month period. Since launch in September, 2018, >90% of patients approached have elected to participate, and >90% of participants are interested in learning their genetic and biomarker results. Data collection is ongoing.

Conclusion: A center-wide biobank holds promise for improving our understanding of PD. Patients are interested in learning about their molecular and genetic information.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/molecular-integration-in-neurological-diagnosis-mind-a-center-wide-approach-to-improve-molecular-and-genetic-characterization-of-parkinsons-disease/