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What has genomics research contributed to Alzheimer’s disease? Before answering that question, let’s define the field of genomics research. A relatively new and continuously expanding scientific field, genomics focuses on the study of genes and the mechanisms by which they’re turned on or off as well as their contribution to normal and abnormal functions of the body.
Genomics research has significantly advanced the scientific understanding of Alzheimer’s disease by helping in the discovery of promising investigational treatments. Genomics also accelerated the evaluation of treatments to prevent Alzheimer’s disease. Eventually, it could help doctors determine which people are most likely to benefit from a particular Alzheimer’s treatment.
Genetic risk factors for Alzheimer’s disease
It’s believed that inherited genes account for about 70 percent of the risk for developing Alzheimer’s disease. A gene called APOE4 is a major genetic risk factor for Alzheimer’s disease. About 20-24 percent of the population carry one copy of this gene (inherited from one parent) and about 2-3 percent of the population have two copies of this gene (inherited from both parents). Each additional copy of the APOE4 gene increases a person’s chance of developing the disease.
So far, researchers have identified about 10 other “Alzheimer’s susceptibility genes,” and they’re working collaboratively to identify more.
In addition, three inherited genes – PS1, PS2 and APP – are known to cause people to develop Alzheimer’s disease while in their 30s, 40s or 50s. Individuals who inherit one of these genetic mutations are virtually certain to develop early-onset Alzheimer’s, and their children have a 50/50 chance of inheriting the same gene.
Collaboration and pioneering contributions
The researchers at Banner Alzheimer’s Institute are known internationally for their efforts to detect and track the earliest brain changes in cognitively normal people at different levels of genetic risk for Alzheimer’s disease. Our research team partners with colleagues at other respected institutions to make advances in the field of Alzheimer’s research, including:
Helping usher in a new era in Alzheimer’s prevention research with the Alzheimer’s Prevention Initiative (API).
Working with colleagues at the University of Antioquia in Medellin, Colombia to study the world’s largest extended family genetically predisposed to develop early-onset Alzheimer’s in the API Autosomal Dominant Alzheimer’s Disease (ADAD) Trial.
Studying cognitively healthy older adults who are at high-risk to develop Alzheimer’s disease based on their age and genetic background in the API Generation Study.
Launching GeneMatch, a first-of-its-kind program designed to identify a large group of people interested in volunteering for Alzheimer’s research studies based in part on their APOE genetic information.
Partnering with Mayo Clinic Arizona to study cognitively normal people at three levels of genetic risk for Alzheimer’s.
Detecting early brain changes – some apparent almost five decades before onset of memory and thinking problems – associated with the predisposition to Alzheimer’s disease.
Demonstrating how brain imaging techniques could be used to help clarify genetic and non-genetic risk factors for Alzheimer’s.
Proposing how imaging and other biological measurements may be used to rapidly evaluate therapies to prevent Alzheimer’s.
Making several pioneering contributions – by characterizing genes that are turned on and off in brain cells – in partnership with colleagues from the Translational Genomics Research Institute (TGen) in Phoenix.
Conducting the first genome-wide study of Alzheimer’s, during which we discovered new genetic risk factors for the disease and confirmed others.
Setting a new precedent for the research community with the public release of these important datasets.
Helping discover a gene that appears to influence normal memory performance and, thanks to this discovery, also identifying a promising treatment to improve memory performance in people with and without Alzheimer’s.
Playing a leading role in the creation of the Alzheimer’s Disease Genetics Consortium, which continues to discover new genetic risk factors for Alzheimer’s.
Banner Alzheimer’s Institute is committed to continuing its pioneering Alzheimer’s research in collaboration with other experts. We’re dedicated to finding new ways to identify, treat and help prevent the development of Alzheimer’s disease and other memory-related conditions.