World Alzheimer’s Awareness Month

Shivom is helping to make diseases like Alzheimer’s a thing of the past. By creating a secure platform for the storage and sharing of genomic data, Shivom is transforming the precision medicine of tomorrow by allowing researchers and pharmaceutical R&D pipelines access to vital genomic data today. This type of data can help determine an individual’s predisposition to certain diseases, among them Alzheimer’s, and even help in the development of future preventatives and cures.

Shivom’s Chief Scientific Officer, Axel Schumacher published the first proof of whole-genome epigenetic abnormalities in late-onset Alzheimer’s Disease. His report specified that epigenetic drift, or change, that occurs with age may put people at higher risk for developing the disease. The findings suggest that epigenetic drift may be an important driving force in AD pathology and raise the tantalizing question of whether such epigenetic changes could be prevented.

Around the world, 44 million people suffer from Alzheimer’s, a fatal form of dementia. The U.S. is home to 5.5 million of those suffering, among them 200,000 people younger than 65 with early-onset symptoms.

The prevalence of Alzheimer’s increases with each generation, especially as populations live to be older. By 2050, the number of those affected in the U.S. is estimated to quadruple, leaving 14 million with the disease (World Alzheimer Report, 2018).

According to the Center for Disease Control and Prevention, not only are more people getting Alzheimer’s as they age—the disease is becoming deadlier. Between 1999 and 2014, death rates from Alzheimer’s increased 55 percent, and today the disease is the 5th leading cause of death in the U.S. In 2017, caregiving associated with Alzheimer’s cost the U.S. $259 Billion, which is nothing in comparison to the physical and emotional toll the disease takes on its victims and their family members.

Alzheimer’s disease is, paradoxically, unique for both its pervasiveness and its mystery. Despite its ubiquity among U.S. senior citizens, there is still no cure in sight, and much about the disease remains unknown. What clinicians do know is that genetics play a large part in determining an individual’s predisposition to the disease.

The most common gene associated with late-onset Alzheimer’s is the apolipoprotein E (APOE). This gene has three forms: the APOE-e2 variety, which reduces one’s risk for the disease, the APOE-e3 variety, which appears to have no effect on risk, and the APOE-e4 variety or the “Alzheimer’s Gene,” which increases one’s risk.

Every person inherits two APOE genes from their parents—one from their father, and one from their mother. However, inheriting two APOE-e4 genes doesn’t necessarily guarantee that an individual will develop Alzheimer’s. Conversely, some people born without any APOE-e4 genes may also develop the disease. Still, according to a study recently published in Neuron, over 50 percent of Alzheimer’s cases are linked to APOE-e4.

Last year, researchers with the Mayo Clinic also linked APOE-e4 to the newly-termed “Type 3” Diabetes, a form of diabetes in the brain. It’s already well-known that those who suffer from Type 2 Diabetes are more likely to suffer from Alzheimer’s due to reduced blood flow and lack of essential nutrients to the brain. Now, it has been discovered that APOE-e4 interferes with brain cells’ ability to use insulin, causing the cells to starve and die.

Still, clinicians don’t generally test for the APOE genotype among late-onset Alzheimer’s patients. Results can be indeterminate, and the disease can usually be diagnosed without genetic testing by that point.

However, testing early-on for APOE-e4 or other mutant genes associated with early-onset Alzheimer’s, like Amyloid precursor protein (APP), Presenilin 1 (PSEN1), and Presenilin 2 (PSEN2), could help determine with some certainty if an individual will develop the disease before the age of 65.

One common characteristic among those with Alzheimer’s are “amyloid plaques,” which are amyloid-beta peptides that build up in the brain and clump together, leading to the death of nerve cells. As these clumps collect, tau protein malfunctions stick together forming neurofibrillary tangles, creating the types of brain abnormalities commonly associated with Alzheimer’s (Mayo Clinic, 2017).

Imagine how much could be learned about Alzheimer’s through the collection of genomic data worldwide. Researchers could identify more of the unknown genetic mutations that cause amyloid plaques, or even isolate an autosomal dominant gene shared by all Alzheimer’s patients, or sets of genes that increase susceptibility to the disease. This could allow for earlier diagnoses, and perhaps, one day, preventative measures or even a cure.

By creating a secure platform where researchers and pharmaceutical R&D pipelines have access to stored genomic data on a massive scale, Shivom hopes to propel treatment for Alzheimer’s forward, incentivizing genomic donors around the globe to contribute their data toward a future where Alzheimer’s disease is, itself, a forgotten memory.