Despite a strong genetic component, only apolipoprotein E (APOE) has been consistently associated with late-onset Alzheimer disease (LOAD). While APOE has a strong effect on LOAD, the risk allele is neither necessary nor sufficient for LOAD. At most, APOE accounts for half of the genetic component of LOAD and the risk allele is not even present in a third of LOAD cases. There is a clear need to identify the remaining risk loci for this disease.
Solution
To find close association that can help to identify individuals at risk for LOAD.
Competitive Advantage
Using the identified single-nucleotide polymorphisms (SNPs) to predict the age of onset of LOAD will identify new pathways to explore the cause and, most importantly, potential targets for the treatment of this disease. Currently, the drug Aricept approved to treat symptoms of Alzheimer's disease, has sales on the order of multibillion dollars.
Applications
Identifying risk of Alzheimer's disease.
Patent Status
International Patent Application No. PCT/US2009/030318 was filed on January 7, 2009.
Licensing Opportunity
The University of Miami and Vanderbilt University seek partners for research, development and licensing of this technology.
About the Inventors
Margaret Pericak-Vance is the Director of the Miami Institute for Human Genomics. She is a founding fellow of the American College of Medical Genetics and a board-certified Ph.D. medical geneticist. Dr. Pericak-Vance is a global leader in the genetics of common diseases. She excels at the integration of genomic and statistical technologies and their application to diseases of public health importance in general, and to neurologic diseases in particular. Her more than 360 peer-reviewed papers demonstrate outstanding productivity and establish important milestones in diseases that include tuberous sclerosis, the muscular dystrophies, amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD), multiple sclerosis (MS), autism, and Alzheimer's disease (AD). She pioneered the use of novel disease gene mapping, leading to the identification of apolipoprotein E (APOE) as the major susceptibility gene for AD. Her recent accomplishments include the 2005 discovery of the CFH gene that determines an individual's risk for developing age-related macular degeneration, and the identification of a gene contributing to the expression of age-at-onset in AD and PD in 2003. Her greatest contribution has been her leadership in the application of methodological innovations capitalizing on the Human Genome Project that affect not only the neurological sciences, but all of medicine. Dr. Pericak-Vance is internationally recognized by her peers as a leader in human genetics research. In 1997, Newsweek magazine named Dr. Pericak-Vance to the "Century Club: 100 People to Watch as We Move to the Next Millennium. Dr. Pericak-Vance holds numerous research grants through the National Institutes of Health that support her research into the genetics of complex disease.
Jonathan Haines is at Vanderbilt University, where he serves as the Director of the Center for Human Genetics Research, a T.H. Morgan Professor of Human Genetics, a Professor of Molecular Physiology & Biophysics, a Chief, Division of Human Genomics, and an investigator in the John F. Kennedy Center for Research on Human Development. Dr. Haines' research focuses on gene discovery and gene localization in complex human diseases. Dr. Haines is actively working on Alzheimer's disease, multiple sclerosis, Parkinson's disease, autism, macular degeneration, and other complex diseases. His gene discovery efforts are already focused on chromosomes 9 and 12 (Alzheimer's disease), 19 (multiple scleorsis), 7 (autism), and 10 (macular degeneration. Dr. Haines has published over 300 peer-reviewed papers and is internationally recognized for his work in many debilitating human diseases.
