News and Events : 2017 : October

DHG Faculty to Serve as Key Personnel for up to $30.2 Million Award in Alzheimer’s Disease Research

The University of Miami Miller School of Medicine and collaborators have been selected to receive awards totaling up to $30.2 million in grant funding for Alzheimer’s disease (AD) research.

Investment in AD research is rapidly increasing as the prevalence of the disease is expected to triple by 2050. Treatments and preventative measures will not become available until the underlying pathophysiology of the disease is better understood.

The awards include a grant expected to total $22.7 million over five years for the Alzheimer’s Disease Sequencing Project Follow-Up Study to the University of Miami and a $7.5 million grant for the study of protective variants for AD in the Amish population to the University of Miami and other collaborators. Both awards were given by the National Institute on Aging, part of the National Institutes of Health.

Margaret A. Pericak-Vance, Ph.D. Executive Vice Chair of the Dr. John T. Macdonald Foundation Department of Human Genetics (DHG) and William K. Scott, Ph.D., Professor and Vice Chair for education and training in the DHG, and professor of public health sciences, will lead the Amish Alzheimer’s Disease Study, along with Jeffery Vance, M.D., Ph.D., professor and founding chair of the DHG, Director, Center for Genomic Education & Outreach at the John P. Hussman Institute for Human Genomics, and professor of neurology, and Michael Cuccaro, Ph.D., associate director of the Center for Genomic Education & Outreach, and associate professor of human genetics and psychology.

Dr. Pericak-Vance has established a scientific relationship with the Amish community over the past 22 years, and the HIHG has engaged this community in multiple studies focusing on AD, age-related macular degeneration and successful aging. The Amish population allows for a rare opportunity in genetic studies because they have a strict traditional lifestyle, which provides for factors directly related to AD, such as level of education, lifestyle, and diet, to be controlled in a way that is not possible with other populations.

While previous studies have traditionally focused on finding why we develop AD and cognitive impairment by discovery of genetic risk factors, this study will focus on why, as we age, patients who would usually be at risk to develop cognitive impairment do not, despite the fact that they have relatives who do. It is hypothesized that these patients are able to escape cognitive impairment because they possess genetic factors that protect them from Alzheimer’s disease and counteract any risk factors that they possess. This study is an opportunity to discover these protective factors and to utilize the proteins from these factors as possible drug and therapy targets to prevent AD

The Alzheimer’s disease Follow-Up Study research team during a study meeting. From left, Brian Kunkle, Ph.D., Jeffery Vance, M.D., Ph.D., Katrina Celis Delgado, M.D., Margaret Pericak-Vance, Ph.D., Larry Deon Adams, and Michael Cuccaro, Ph.D.

Leading the University of Miami’s ADSP Follow-Up Study efforts will be Dr. Pericak-Vance. Dr. Pericak-Vance, as an internationally recognized human geneticist and world leader in AD research, is the highest NIH-funded researcher at the Miller School. She and other collaborators discovered the first association of a common genetic variant, the apolipoprotein e4 allele (APOE4) to late-onset AD, in 1993. (Corder et al., 1993).

ADSP is a national sequencing initiative focused on identifying genetic risk and protective factors for AD. The Follow-Up Study will focus on expanding the diversity of the ADSP by engaging in whole genome sequencing of more than 10,000 individuals with Caucasian, African American and Hispanic ancestry.

Dr. Pericak-Vance says of the Follow-Up Study: “This is a landmark study that will enable us to obtain whole genome data from an unprecedented number of individuals from several underserved populations, ensuring that potential therapies will be applicable to all.”

The inclusion of diverse datasets in the Follow-Up Study is crucial, as a majority of the data for AD has been gathered from non-Hispanic white patients. Many diverse populations have a higher risk of AD, such as African American and Hispanic populations. In the next 30 years, 6.9 million African Americans will reach the age of risk for AD, with nearly half of African Americans currently over the age 85 affected by AD. Dr. Pericak-Vance was featured in a Washington Post article focusing on AD in African Americans earlier this year.

Dr. Pericak-Vance is currently engaged in nine other NIH-funded AD research grants, including grants that focus on Puerto Rican, Caribbean Hispanic, and African American populations. The HIHG’s AD studies featuring African American, Puerto Rican, and Hispanic populations are currently recruiting patients, and interested participants will find information on contacting the HIHG here.

The University of Miami will be joined on the Follow-Up Study by multi-PIs Richard Mayeux, Ph.D. and” Badri Vardarajan, Ph.D.”:, from Columbia University; the National Cell Repository for Alzheimer’s Disease as part of the Indiana University School of Medicine the National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site and the Genome Center for Alzheimer’s Disease as part of the University of Pennsylvania Perelman School of Medicine and the Uniformed Services University of Health Sciences, an institution of higher learning within the Department of Defense. For the Amish study, the University of Miami joins Jonathan Haines, Ph.D., the main PI on the Amish study from Case Western Reserve University and a longstanding collaborator with Dr. Pericak-Vance, and Peter St. George Hyslop, Ph.D. from the University of Toronto.