Category: Parkinson's Disease: Genetics
Objective: To establish a biobank of DNA and tissue samples from a population of movement disorder patients, their family members and healthy controls recruited from the greater Chicago area. Each biospecimen is directly linked to detailed clinical information, personal and family medical history, environmental information and genetic information.
Background: A large population of patients with movement disorders and their families are regularly seen in the Northwestern Memorial Neurology clinic. This provides an opportunity to gather valuable biological and detailed clinical data per participant. While there is a growing number of large-scale DNA databanks, there are few cohorts which have associated phenotypic data.
Method: At a minimum, the following are collected from all consenting participants_: a DNA sample, family/social history information, MoCA and if they are an affected patient, electronic medical record data containing relevant disease-specific clinician administered scales. Whole blood or saliva samples are taken for DNA extraction, with plasma and CSF also taken if possible. Clinically relevant results of the genetic testing can be returned to participants. Skin biopsies for IPSCs etc. are also collected from consenting participants. All biospecimens accompanied by de-identified clinical data are available to external researchers through a structured application process.
Results: To date 836 participants have been enrolled comprised of: 194 controls (123 familial, 71 non-familial), 474 PD and 168 other movement disorders. DNA is in storage for all participants, in addition 103 skin biopsies and 25 CSF samples have been taken. 292 PD samples have been sent for genotyping on NeuroChip, as well as Sanger sequenced for GBA, and analyzed with MIPs. Family based research exomes of 7 families have identified the underlying genetic cause in 3 families, with expansion to 5 more.
Conclusion: The dataset will be used by investigators to conduct longitudinal observational studies. The ability to combine environmental/social history with genomic data presents the opportunity to correlate movement disorders to causes both genetic and environmental factors. Growth of the database/biobank is necessary as well as collaboration with other institutions.
To cite this abstract in AMA style:A. Hernandez, S. Lubbe, T. Simuni, D. Bega, D. Krainc, N. Mencacci, R. Modiest, P. Opal, C. Taylor, N. Shetty, R. Malkani, J. Blackburn. Northwestern University Feinberg School of Medicine Parkinson’s disease and Movement Disorders Center Biorepository: bringing the clinic and lab together [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/northwestern-university-feinberg-school-of-medicine-parkinsons-disease-and-movement-disorders-center-biorepository-bringing-the-clinic-and-lab-together/. Accessed December 7, 2023.
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