SC-ADRC Molecular and Genomic Biomarker Core

Molecular and genetic biomarkers offer critical information in early detection, differential diagnostics, treatment assessment, and disease progression monitoring of Alzheimer’s Disease (AD) and Alzheimer’s Disease and Related Dementias (ADRDs).

Given the high heterogeneity of AD and ADRDs, novel biofluid and tissue biomarkers in addition to traditional biomarkers (i.e., Aβ40/42, Tau, P-tau, APOE genotype) are critically needed to distinguish different types of dementia, better predict AD risk and disease onset, and monitor disease progression.

A deeper understanding of traditional biomarkers as well as development of novel molecular biomarkers will require longitudinal studies paired with clinical, imaging, and genetic data.

Mounting evidence suggests that AD pathology occurs well before its symptoms, and recent FDA-approved drugs showed significant efficacy in slowing the disease progression in early AD patients. Early detection also requires the development of ultrasensitive test methods to capture trace biofluid biomarkers.

To address these critical needs, the Molecular and Genomic Biomarker Core (MGBC) of the SC-ADRC aims to provide capabilities, tools, and infrastructure for processing, banking, analyzing, and sharing biospecimens in order to provide longitudinal biomarker data on a wide range of subjects as well as to facilitate the development and validation of novel biosensors with ultra-high sensitivity and point-of-care availability for early detection of AD and ADRDs.

The MGBC focuses on developing and validating biomarkers for early detection, diagnosis, and monitoring of Alzheimer's Disease (AD) and related dementias. It aims to enhance understanding of AD pathology and support translational and clinical research.

It is a collaborative effort between MUSC, Clemson, and USC. The MGBC will efficiently serve the needs of the ADRC investigators by working interactively with other SC-ADRC cores.

High quality data including the catalogs of available biomarkers obtained by the MGBC will be shared with the National Alzheimer’s Coordinating Center (NACC), and samples may be shared through the National Centralized Repository for Alzheimer’s Disease and Related Dementias (NCRAD).

We anticipate that the new MGBC will strengthen SC ADRC research, promote sharing of biomarker resources, harmonize with efforts to advance national AD/ADRD initiatives, and provide new insights and biometrics for personalized medicine approaches to diagnose, treat, and prevent AD and ADRD.

Here is the list of services and activities led by MGBC:

1. Measure, store and share key biomarker measurements (Aβ40/42, Tau, P-tau 181/231, 217, NfL, GFAP, APOE genotype, SNAP-25, α-synuclein)
2. Integrate molecular biomarker data with genomic, clinical, and imaging data to further understanding of biomarker utility
3. Perform cutting-edge morphological and genomic analysis for both AD/RD brain tissue and GE mouse models
4. Perform pluripotent stem cells (iPSCs) studies
5. Extraction, culture, maintenance, and studies on the postmortem neuronal progenitor stem cells
6. In order to identify and validate novel molecular biomarkers and biosensing approaches, the core will devise novel nano-biosensors with ultrafine detection limits in order to facilitate early detection of AD and ADRD; leverage novel nano-biosensors for the development of amyloid aggregate species as novel biomarkers; and translate novel nano-biosensing approaches to point-of-care testing (POCT).

Learn more by visiting the SC-ADRC website.