By Contributing Writer Reena Jordyn
About five million — or 1 in 10 — Americans aged 65 and older have symptomatic Alzheimer’s disease (AD).
While there are medications that help slow down the development of cognitive symptoms, there’s no available treatment to prevent the disease’s progression altogether. AD has been around since the early 1900s, but research on the subject remains scarce. Previously, the National Institutes of Health (NIH) allocated less than $500 million for research focused on AD, less than half of the budget meant for research on other serious conditions like AIDS ($3 billion) and cancer ($5 billion).
Perhaps a number of other factors come into play, too, such as the gender and racial disparities of AD. Of over five million AD incidences in the U.S., two-thirds occur in women. Researchers point to women’s longevity as a major reason behind these figures. Additionally, women’s brain anatomy, function, and development may lend themselves to AD – women’s brains accumulate greater tangle burden than men’s. Furthermore, African-American women, in particular, are twice more likely to acquire AD and other forms of dementia compared to their white peers. Similarly, Hispanic women are also more predisposed to AD, the risks being one and a half times greater than in white women. Differences in health, lifestyle, education, physical activity, and socioeconomic factors are thought to be contributory factors. These disparities and their ensuing bias could’ve been limitations for earlier research— luckily, we’re experiencing societal and scientific progress like never before.
Discovering the Klotho and RBFOX1 Variants
Much of what we know today points to genes playing a major part in the disease’s development. Over three decades ago, scientists have found the gene variant ApoE4 as a main contributor to Alzheimer’s. The prevalence of copies of this gene increases the risk for AD. A recent study by Stanford University School of Medicine investigators discovered a new gene variant that could help stave off AD: klotho. The researchers contrasted the likelihood of AD development in subjects with a single copy of the klotho variant against those without. The results revealed that those carrying one copy of the klotho variant had a 30% lower risk of developing AD. It was found that a single copy of klotho substantially slowed the progression of cognitive symptoms and impairment. And klotho was also seen to lower the beta-amyloid burden in ApoE4 carriers, helping mitigate the onset of dementia.
Another study by Timothy Hohman of Vanderbilt University Medical Center and Richard Mayeux of Columbia University Medical Center was able to link a new gene variant to AD. Hohman and Mayeux were able to unearth RBFOX1, a gene variant localized around plaques and in dystrophic neurites, which present heavily in people with AD. This revelation could lead to more advances in gene-specific therapy and precision medicine.
What’s Next for AD Treatment?
Increased awareness about the disease, coupled with stronger support, enables more scientists to conduct more in-depth studies on AD. However, the success of these investigations relies on strong and vast databases, and skilled genetic specialists.
The field needs more scientists, doctors, nurses, and other healthcare professionals to cast a wider scope. A top nursing career particularly relevant to this field is genetics nursing. Professionals in this field are in a unique position where they can assist patients suffering from genetic diseases as well as conduct genetic-related research simultaneously. This gives them an invaluable viewpoint of the disease, making them ideal researchers and great educators to patients and their carers too. That being said, AD patients, people predisposed to AD, and even the everyday person should be as proactive as those in the field. You can easily do your part by connecting your personal health records with the Luna platform. By doing so, you give researchers access to genetic and lifestyle data, among other pertinent information, which could thrust health discovery even further.
Every step and every grain of information gained is a huge step forward for Alzheimer’s research. In time, there may even be a medication that could present a cure for the dreaded disease.
Luna’s suite of tools and services connects communities with researchers to accelerate health discoveries. With participation from more than 180 countries and communities advancing causes including disease-specific, public health, environmental, and emerging interests, Luna empowers these collectives to gather a wide range of data — health records, lived experience, disease history, genomics, and more – for research.
Luna gives academia and industry everything they need from engagement with study participants to data analysis across multiple modalities using a common data model. The platform is compliant with clinical regulatory requirements and international consumer data privacy laws.
By providing privacy-protected individuals a way to continually engage, Luna transforms the traditional patient-disconnected database into a dynamic, longitudinal discovery environment where researchers, industry, and community leaders can leverage a range of tools to surface insights and trends, study disease natural history and biomarkers, and enroll in clinical studies and trials.