FAU Researchers at Forefront of of Alzheimer’s Genetics and Diagnosis

Florida Atlantic University’s Randy D. Blakely, Ph.D., and Lisa Wiese, Ph.D., have received grants from the Florida Department of Health’s Ed and Ethel Moore Foundation for Alzheimer’s Disease Research, for programs focused on the mechanism of genes involved in neurodegeneration using novel genetic models, and to develop a culturally relevant model to diagnose and manage dementia in rural underserved communities.

Florida has the second highest prevalence for Alzheimer’s disease (AD) in the United States and is the sixth leading cause of death for Floridians 65 and older. Moreover, estimates project that more than 720,000 Floridians will be living with AD by 2025. About 527,000 family caregivers bear the burden of the disease in Florida.

Blakely, principal investigator, executive director, FAU Stiles-Nicholson Brain Institute and a professor of biomedical science in FAU’s Schmidt College of Medicine, received $349,819 for a project titled, “In Vivo Functional Analysis of MBLAC1: A Novel Genetic Risk Factor in Alzheimer’s Disease with Therapeutic Potential.”

Using a tiny worm, C. elegans, which has a simple organization of 959 cells, 302 neurons and 56 glial cells, and mouse models, researchers will define mechanisms by which a gene, swip-10, supports neural health. This research is the first to seek mechanisms supporting the processes and risk surrounding the human form of swip-10, known as MBLAC1. MBLAC1 was recently identified as a risk gene for AD, particularly for those who have both AD and cardiovascular disease. The significance of this work lies in its ability to elucidate the impact of a novel molecular pathway in relation to neurodegenerative disease and to justify serious consideration of MBLAC1 as a target for AD drug development.

In this regard, Blakely and collaborators recently demonstrated that the mouse form of the MBLAC1 protein is the major, if not sole target in the brain for the FDA-approved drug, ceftriaxone, a molecule reported by others to have neuroprotective activity, including in AD mouse models. This current project will use an iterative approach, utilizing both C. elegans and mouse models to more deeply characterize the biological mechanisms underlying the neuroprotective potential of MBLAC1 and its pharmacological targeting. 

“Existing medications offer only modest benefit for the millions of Americans suffering from, or at risk for Alzheimer’s disease, and do nothing to slow neurodegeneration,” said Blakely. “With support from the Ed and Ethel Moore Foundation for Alzheimer’s Disease Research, our genetic model systems will help to reveal the mechanisms underlying neuronal function and health and potentially lead to desperately needed therapeutic options for Alzheimer’s disease and its co-morbidities.”

Wiese, an associate professor in FAU’s Christine E. Lynn College of Nursing, received $250,000 for a project titled, “Optimizing Rural Community Health Through Interdisciplinary Dementia Detection and Care (ORCHID).” The objective of the project is to develop a culturally relevant model for use in rural underserved communities including clinical protocols, to strengthen provider diagnosis and management of dementia, and follow patients and caregivers to ensure that they receive needed support following a dementia diagnosis. This model will test the effectiveness of partnerships between local nursing students, primary care providers, university-based neurology and community health research teams and rural stakeholders.

Although the primary care setting is well-suited for dementia screening due to longstanding relationships between providers and patients, low screening rates by providers reflect a combination of factors. Reasons include unfamiliarity with cognitive assessment tools, lack of access to updated prevention and treatment protocols, and inaccurate perceptions that nothing can be done to help families facing a dementia diagnosis. This dementia detection and management gap is more severe in Medically Underserved Areas, such as rural Florida’s racially/ethnically diverse “Glades” region.

A consortium will investigate if developing clinical protocols through community-based engagement among local academic, clinical, and community resources will increase rates of dementia diagnosis and care management in this community. A multidisciplinary team of nursing students and faculty from Palm Beach State College, adult-gerontology nurse practitioners from FAU, and neurology experts from the University of Miami will coordinate study activities with local providers, stakeholders and residents.

“The Ed and Ethel Moore Alzheimer’s Disease Research Program plays a vital role in enabling us to address these disparities in dementia care in rural South Florida,” said Wiese. “Earlier detection of Alzheimer’s Disease and Related Dementias or ADRD is imperative. Early dementia detection and diagnosis provide opportunities for modifying behaviors such as smoking and managing comorbidities that contribute to ADRD risk, including diabetes and hypertension. Earlier detection also provides critical time to connect patients with community resources and reduce caregiver burden.”  

The long-range goal of the program is to decrease costly preventable hospital admissions, which are common occurrences in underserved populations. Applying this community-based participatory research design will facilitate translation of the research findings back to caregivers, providers and community agencies. This approach will provide a model for other rural communities seeking innovative strategies to improve their ADRD detection and care efforts.