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.

National Diabetes Awareness Month: Pinpointing Treatment

National Diabetes Awareness Month Pinpointing Treatment
National Diabetes Awareness Month Pinpointing Treatment

We live in a world where everyone knows someone who has diabetes.  The disease is characterized by the inability to produce or effectively use insulin, it is

rapidly on the rise and becoming one of the leading causes of death worldwide. According to the World Health Organization (WHO), approximately four million people die from complications due to diabetes or high blood glucose levels (WHO, http://www.who.int/news-room/fact-sheets/detail/diabetes).  The fact that

80 percent of those afflicted are in middle to low-income countries, and cannot

or do not visit a medical professional regularly makes detection, diagnosis and

treatment all the more difficult.  WHO also reports that the number of people with diabetes has quadrupled since 1980 to 422 million people in 2014, with India having the largest population of adult diabetics (74 million, IDF) on the planet.

Diabetes has been manageable for most patients since insulin treatments were first pioneered in the 1920s, but it still remains undiagnosed in 24 to 62 percent of the world’s population. (WHO http://apps.who.int/iris/bitstream/handle/10665/204871/9789241565257_eng.pdf;jsessionid=6C39C7451F038C0EDDCED7B9528C7FE5?sequence=1).  The risk of not being diagnosed or receiving improper and insufficient treatment is catastrophic, potentially leading to blindness, kidney failure, heart attacks, stroke and lower limb amputation.  Undiagnosed cases will be a core issue throughout National Diabetes Month in the United States, where over 30 million people live with the disease (Center for Disease Control https://www.cdc.gov/features/livingwithdiabetes/index.html) but many more remain undiagnosed and untreated.   

Genomic medicine and next-generation sequencing has seen the fastest progress to date in being able to identify genetic markers for diabetes in patients, and particularly being able to diagnose the most accurate type of diabetes they may have.  For both Type 1 and Type 2 diabetes, genomic sequencing can reveal many significant risk factors but cannot fully predict the onset of any particular condition. The specific combination of genetic markers correlated to increased risk is complicated, and a few dozen genes of many variants have been found to contribute a risk to one or both forms of the disease. Given this complex relationship, the disease cannot be accurately predicted in either form. Some rarer cases, however, can be predicted from pinpointing just one particular gene, but all of these monogenic forms of diabetes are extremely rare.  

Genomic medicine is also at the heart of managing and treating the disease and can be most effective in being able to inform doctors and patients of the exact type of diabetes that is present.  In both cases, physical activity is important, with the Center for Disease Control (CDC) recommending being active at least three times a week. For the undiagnosed, being checked for prediabetes (a high blood sugar condition that falls short of the definition of Type 2 diabetes) and healthy weight management are also strong ways to mitigate risk factors. For those who are diabetic patients, management is key, and balancing a healthy diet and regular blood sugar testing with treatments like insulin can mitigate the risk of the more serious symptoms associated with the disease. Still, symptoms of these risks should still be monitored closely, and a medical professional should be notified if any issue related to the patient’s diabetes arises.

The specific relationship between the human genome and all forms of diabetes is a lively field of study, one that could lead to a breakthrough on par with that of Banting and Best’s first insulin treatments. One such opportunity is in India, where Project Shivom has partnered with Genetic Technologies Limited on a pilot program meant to find a genomic answer for the nation’s unusually high rate of Type 2 diabetes. See here for more about how we’re using blockchain to combat Type 2 diabetes in India. (LINK: https://medium.com/projectshivom/blockchain-to-combat-type-2-diabetes-epidemic-in-india-1856f460bac5).

September Sickle Cell Awareness Campaign — Plus more updates about our Diabetes work in India

September Sickle Cell Awareness Campaign India
September Sickle Cell Awareness Campaign India

Following the announcement of our partnership with eMQT, Shivom asks the community to take a moment to reflect on the devastating genetic disorder Sickle Cell Disease (SCD)

SCD is a blood disease and particularly common in people with an African or Caribbean family background. Patients with SCD produce irregular shaped red blood cells that can cause complications because they don’t live as long as healthy blood cells and can’t carry enough oxygen around the body. Due to their shape, these blood cells can get stuck inside smaller blood vessels. This keeps blood from flowing and can cause pain and severe damage to parts of the body, ultimately leading to a reduced life expectancy.

We are inviting patients, physicians, and researchers to share their experiences with SCD on our social media channels.

Follow us, tweet at us @ProjectShivom, and use the hashtag #SickleCellAwareness OR you can send us your story to info@shivom.io

Read more about our work with SCD and our partnership with eMQT here

Moving Forward with Diabetes Pilot in India

Moving Forward with Diabetes Pilot in India

Towards the end of September our CEO, Henry Ines, and our Co-Founder and CSO, Dr. Axel Schumacher will again head to India to begin our Type II diabetes (T2D) pilot study in the state of Andhra Pradesh, located in the south-eastern part of the subcontinent. Together with our Indian partners, including a diagnostics clinic and local doctors, we will initiate the collection of DNA samples from diabetes patients and matched control subjects. Among others, the work will also involve setting up recruitment, sample logistics, educational programs, and standard operating procedures for the pilot and further projects. identification of biomarkers for accurate classification of patient subgroupsOur pilot program serves to bring precision medicine studies to the next era. The study will not only aim at finding genotypes that are specific to Indian sub populations but help diagnose and treat the disease. Collected data will help to further our blockchain platform, provide a proof of concept of assigning digital identities for the local population, and provide data ownership to study participants. By using state-of-the-art AI algorithms, Shivom and our partners will work towards the identification of biomarkers for accurate classification of patient subgroups and diabetes management apps within our platform.

 

What’s New with Our Platform?

We are thrilled by the high-interest shown by our community to test one of our first modules. Please stay tuned for more information regarding the release date and details for logging into the test module.

We look forward to providing the community with more updates next month and hearing your SCD stories.

As always, we thank you for your continued support and dedication.

Shivom Team