Details and Contribution

What am I working on and why?

This semester I will be working on creating a scientific poster and then writing a paper detailing the pathological findings in a case of Alzheimer's disease. The neurodegenerative disorder is debilitating to the many affected worldwide. Researchers have made significant discoveries about AD however there is much that remains to be understood. The two genes PSEN1 and PSEN2, have been linked with AD that is passed down through a family in a dominant manner. Meaning that if a parent has AD due to a presenilin mutation, each child has a fifty fifty chance of inheriting the gene and possibly developing the disorder. Not only do these families have to lose members but they have to watch history repeat every generation. Moreover these types of AD tend to strike at a young age (around 50) and progressively worsen. While there are many more cases of sporadic or non-genetic AD, the familial AD cases provide the research community with insight about what may possibly go wrong and lead to the disease.

In my project, I am looking at a PSEN1 G209E mutation and this is important because small observations may one day help the research community understand the different mutations that give rise the AD. Hopefully once the disease has been understood, preventative measures, biomarkers, and treatments can be developed.

Alzheimer's Disease Fact SheetWhat is Alzheimer’s disease, what causes it, what are the symptoms, and how is it treated? Get answers to these questions and more in this NIA fact sheet.

Alzheimer's Disease Genetics Fact SheetRead about the genetics of Alzheimer's disease. A genetic mutation can cause early-onset Alzheimer's. In late-onset Alzheimer's, a variant of the APOE gene increases risk.

Assessing Risk for Alzheimer's DiseaseWhat are risk factors for Alzheimer’s disease? Learn about genetic and other risks for early- and late-onset Alzheimer's and steps you can take to stay healthy.

What Causes Alzheimer's Disease?How does Alzheimer's disease affect the brain? Read how genetics, environment, and lifestyle play a role in developing early- or late-onset Alzheimer’s.