New Variants in Alzheimer's Treatment

New Genetic Variants May Unlock Future Therapies for Alzheimer’s

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 LunaDNA 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.

Dawn Barry, LunaDNA

Looking Ahead Into 2021 and Beyond — a Letter From the President, Dawn Barry

By Dawn Barry, President and Co-founder, LunaPBC

Welcome to the New Year, LunaDNA Community.

Your passion and commitment to creating health solutions these past few years has inspired all of us. You’ve continuously reinforced that the LunaDNA mission is not just ours alone, and that we are all in this together. As we approach 2021 with optimism and hope, we’re confident in our pursuit of redefining relationships between people, communities, and scientists towards better health for all.

One thing we learned from 2020 is that times of emergency have a clarifying effect. They tend to surface what’s truly important to us versus what we might have assumed was important. These times have also reminded us of the importance of establishing a deeper understanding of health and disease, and how vital these understandings are for all people. Through this lens, we proudly reflect on Luna’s top guiding principles.

Consumer Data Privacy Empowers Participation in Science

From meetings with lawmakers in Sacramento, California to quotes in media articles, Luna actively maintains the position that when people have privacy protections, they lean into opportunities to share their information for research. Further, we believe that we can achieve a sorely needed level of data inclusiveness through such privacy protections.

Throughout 2019 and into 2020, we saw steady advancements in consumer privacy laws, most notably Europe’s General Data Protection Regulation (GDPR) and California’s Consumer Privacy Act (CCPA). The momentum toward rigorous data privacy regulations were no doubt necessary at a time where there nearly weekly reports on mismanagement, misuse, and consumer data breaches by big tech companies, banks, law enforcement, and healthcare systems.

The core tenant of these consumer privacy laws is quite simple: honor the individual and their intents — versus the institution that stores their data — as the one who should decide what entities holds their data and for what purposes. These laws also empower people to remove their data at will – ultimately enabling people to have control over their most personal, private information.

This evolution awoke a cultural consideration: should data privacy be a fundamental human right, and, if so, what events could supersede such a human right? The COVID emergency instigated the societal conundrum of trading consumer privacy rights in exchange for cooperative data uses that benefit the whole. Only time will tell how this exchange will impact us as individuals, families, and an international community.

Looking Ahead into 2021 and Beyond

Meanwhile, amid the chaos of December 2020, big tech companies made significant updates to their privacy policies — Apple going in a positive direction, Instagram going in a negative one. While minimally highlighted in the media, privacy policy updates to consumer data usage have many people concerned about using certain apps. Some updates, which you tacitly allow just by continuing to use the product, allow third parties to view and analyze the information captured through your phone camera; copy your address book, call log and SMS history, and reach through to other devices you own to capture your online activity.

At Luna, we know people hold the power to transform discovery by simply sharing what they already know about their experiences in health and illness. When we come together as a community of all backgrounds, ages, environments, and share this information for study in a structured way, we can surface more robust answers faster. Even better, we can advocate for what’s essential to our health, beyond just pills and doctor visits. Look no further than COVID-19 data insights: we can clearly identify that different communities have very different challenges, and science is still working to clearly understand why, while also wrestling with the community’s deeply rooted issues of trust, privacy concerns, and possible discrimination.

Luna is a new model for social and cultural engagement that empowers health for all. Just as people came together to change how we rent properties and request rides, so too can we change how we surface health answers. Together, we built Luna from a foundation of putting people’s needs for data control, privacy protections, and transparency first.

Now it’s time. While we’re all experiencing health in a whole new way — to show the world that our data is ours and it’s valuable — we can put it to good work by coming together for science.

In 2021, we invite you to continue to help us realize our collective vision by joining our ever-expanding studies and inviting others to join, too. Only together can we overcome barriers life throws our way.

COVID-19 Study Early Insights

COVID-19 Study’s Early Insights Shed Light on New Trends 

Since the launch of our COVID-19 Study in March 2020, LunaDNA members have submitted over 340,000 responses to gather physical and mental wellness information directly from individuals during this global pandemic.

Early insights we previously released in July revealed that one in six participants had taken a COVID-19 test and nearly one-third had tested positive. Today, we can identify a new shift in trends that better represent the current state of the world.

Across the globe, members have expressed how they are impacted by COVID-19, their current health conditions, and the behaviors they have since implemented into their daily lives. Based on our recent collection of survey data, nearly 1 in 20 respondents have tested positive for COVID-19, where 25–44-year olds were more likely to test positive than any other age demographic.

Other preliminary insights from the survey data reveal that of those who have tested positive, 41.5% have an existing health condition.

The following infographic shares key findings on this unique demographic’s behaviors, including how 100% of these respondents are practicing social distancing and only 13% have sought care from a hospital of health care facility.

COVID-19 Study Excerpt
Click Image to View More Insights

Different than many institutional studies, the ongoing LunaDNA COVID-19 Study offers people and communities easy-to-use tools to capture their lived experience during this unique time, recognizing that each person, community, and geography is impacted differently and will likely experience different long-term effects.

Sharon Terry, COVID-19 Study partner and CEO and President of Genetic Alliance, presented these early insights to the National Academy of  Medicine’s (NAM) Standing Committee on Emerging Infectious Diseases and 21st Century Health Threats.

“This study is conducted by the people, for the people, and in collaboration with various communities. This inclusive approach has garnered broad appreciation both for its ability to incorporate real-world experiences but also because it’s empowering people to have a voice in what will not be a one-size-fits-all solution to COVID-19. We are responding to NAM’s recommendation to expand to at-risk individuals such as those in nursing homes and detention centers. When unique voices and experiences are represented, researchers can deliver more precise answers.”

COVID and Communities  

LunaPBC, the public benefit corporation behind the LunaDNA platform, is collaborating with various community groups to support privacy-protected COVID-19 study including Genetic Alliance and Disease InfoSearch, xCures, San Diego Blood Bank, and the Propionic Acidemia Foundation. Each community’s study has a unique focus, ranging from how the virus affects cancer, genetic disorders and co-morbidities, to general data-sharing for research studies and clinical trials.

We encourage community leaders to create their own COVID-19 study program and leverage the LunaDNA infrastructure to better understand the impact of the coronavirus in their communities. Please contact us at collaboration@lunadna.com to explore your needs and goals.

Answers Wanted  

The COVID-19 Study is an IRB-approved study. If you are a researcher interested in qualifying and/or quantifying the short- and long-term physical and mental impact of the coronavirus pandemic and/or COVID-19 disease, we want to meet you. The LunaDNA platform exists to bridge individuals, communities, and researchers for privacy-protected, socially responsible discovery that improves health and quality of life in local communities and beyond. The need to invite individuals into research from the safety of their home, and to incorporate their lived experience into discovery, has never been clearer. Please contact us at discovery@lunadna.com.

Your Voice Matters  

We invite all people over the age of 18 to join the COVID-19 Study by taking the physical and mental wellness questionnaires on LunaDNA. Together, we can surface insights to improve our current state and better prepare for future pandemics. The LunaDNA platform preserves your personal privacy, is simple to join, and is free of charge.

This is an ongoing study and is open to everyone from all over the world. We encourage you to share your experiences during this unique time to build a representative body of knowledge and help scientists better understand this global pandemic.

Click here to take the new vaccine survey in the COVID-19 Study.

COVID-19 Study Infographic Snippet

LunaDNA Reveals Early Insights from the COVID-19 Study

In March 2020, LunaDNA, in partnership with Genetic Alliance, opened a COVID-19 study to gather physical and mental wellness information directly from individuals during the global pandemic.

As of today, individuals from across the country and beyond have submitted over 187,000 survey responses revealing some remarkable early insights that have been presented to noteworthy science organizations. The study is still open and all are welcome and encouraged to share their experience to build a representative body of knowledge.

Early data shows that, of all survey respondents, one in six has taken a COVID-19 test and nearly one-third tested positive. Additionally, those 45 years of age and older were 4.3x more likely to test positive for the virus than those younger than 45, and those 65 years of age and older were 3.5x more likely to test positive than those between the ages of 24 to 44. 

Other preliminary insights from the survey data reveal testing expectations and anxiety level for respondent’s who have been diagnosed with COVID-19. The infographic below highlights the key findings.

COVID-19 Study Infographic Snippet
Click Image to View More Insights

Different than many institutional studies, the LunaDNA COVID-19 Study gives people and communities the tools to capture their lived experience during this unique time, recognizing that each person, community, and geography is impacted differently and will likely experience different long-term effects.

Sharon Terry, COVID-19 Study partner and CEO and President of Genetic Alliance, presented these early insights to the National Academy of  Medicine’s (NAM) Standing Committee on Emerging Infectious Diseases and 21st Century Health Threats.

This study is conducted by the people, for the people, and in collaboration with various communities. This inclusive approach has garnered broad appreciation both for its ability to incorporate real-world experiences but also because it’s empowering people to have a voice in what will not be a one-size-fits-all solution to COVID-19. We are responding to NAM’s recommendation to expand to at-risk individuals such as those in nursing homes and detention centers. When unique voices and experiences are represented, researchers can deliver more precise answers.”

COVID and Communities 

LunaPBC, the public benefit corporation behind the LunaDNA platform, is collaborating with various community groups to support privacy-protected COVID-19 study including Genetic Alliance and Disease InfoSearch, xCures, San Diego Blood Bank, and the Propionic Acidemia Foundation. Each community’s study has a unique focus, ranging from how the virus affects cancer, genetic disorders and co-morbidities, to general data-sharing for research studies and clinical trials.

We encourage community leaders to create their own COVID-19 study program and leverage the LunaDNA infrastructure to better understand the impact of the coronavirus in their communities. Please contact us at collaboration@lunadna.com to explore your needs and goals.

Answers Wanted 

The COVID-19 Study is an IRB-approved study. If you are a researcher interested in qualifying and/or quantifying the short- and long-term physical and mental impact of the coronavirus pandemic and/or COVID-19 disease, we want to meet you. The LunaDNA platform exists to bridge individuals, communities, and researchers for privacy-protected, socially responsible discovery that improves health and quality of life in local communities and beyond. The need to invite individuals into research from the safety of their home, and to incorporate their lived experience into discovery, has never been clearer. Please contact us at discovery@lunadna.com.

Your Voice Matters 

We invite all people over the age of 18 to join the COVID-19 Study by taking the physical and mental wellness questionnaires on LunaDNA. Together, we can surface insights to improve our current state and better prepare for future pandemics. The LunaDNA platform preserves your personal privacy, is simple to join, and is free of charge — it costs only 5 minutes of your time to contribute to valuable research. Click here to get started.

KCNT1 Epilepsy Foundation, LunaPBC, and Genetic Alliance to Launch Patient-Led Discovery Program

Program incorporates patient-driven study to inform research and drug development for KCNT1-related epilepsy.

SAN DIEGO and WASHINGTON, May 26, 2020 /PRNewswire/ — The KCNT1 Epilepsy FoundationLunaPBC, and Genetic Alliance today announced a program to assemble a patient-led drug discovery community to study disease etiology and develop therapeutic interventions for patients with KCNT1-related epilepsy. The program is being launched in collaboration with Biogen, Inc.

The comprehensive program — inclusive of patients and families, patient advocates, patient-centric data stewardship, and pharmaceutical partners — is deploying patient-driven trial design to ensure the best clinical and behavioral features and trial endpoints are incorporated in the drug discovery process.

In a program kick-off meeting held in Washington, D.C., prior to the coronavirus pandemic, the organizations aligned around a number of key activities and, led by the KCNT1 Epilepsy Foundation along with patients and their families, began enrollment in the discovery community.

Epilepsy of infancy with migrating focal seizures was first described in 1995. Fifteen years later, KCNT1 gene mutations were identified as the major disease-causing gene of this condition. The data on this condition associated with KCNT1 mutations are heterogeneous and many questions remain unanswered including prognosis and the long-term outcome(s) especially regarding epilepsy, neurological and developmental status and the presence of microcephaly.

The program is focused on reshaping the role and experience of study participants by inviting patients and advocates as partners to help with program inception. This format helps guide researchers towards the most accurate observations and endpoints that will be built into the study design to increase participant engagement and retention, to ensure interventions meet the goals and needs of patients, to capture real-world and patient reported insights, and to facilitate comprehensive, longitudinal study. As covered in MedCity News, this study framework also enables patients to participate without leaving the comfort and safety of their home thereby reducing the hardship on families, increasing access to more participants, and allowing the healthcare system to focus on COVID-19.

“The KCNT1 Epilepsy Foundation is forming a research community, founded on the fact that we parents have a lived-experience of this disease that must inform the research,” said Seth Greenblot, who founded the KCNT1 Epilepsy Foundation. “We are calling on all parents and their families to join us to accelerate the quest to alleviate our suffering.”

“Genomics data will be studied alongside longitudinal, patient-reported and real-world information to gain a clearer picture of the patient experience and ultimately better characterize the disease. Modern data stewardship is a key aspect of this process to ensure data is always increasing in depth over time and so that many collaborators can access the data for discovery,” said Dawn Barry, president and co-founder of LunaPBC, the management company behind health data sharing platform, LunaDNA.

“By incorporating what the patients see as important endpoints, observations, and quality of life goals, trials will better address the needs of these families,” said Sharon Terry, chief executive officer and president of Genetic Alliance. “I’ve been concerned that ‘patient-centric’ is becoming a buzzword, and not a reality. This collaboration is an exemplar for making it happen.”

To learn more and determine eligibility to participate, visit kcnt1epilepsy.org to join and help accelerate discovery.

About KCNT1 Epilepsy Foundation
The KCNT1 Epilepsy Foundation aims to provide accurate information for parents and physicians about KCNT1 Epilepsy disease mechanisms, symptoms and treatment options.  We are learning new things all the time, and work closely with researchers and clinicians to provide the most up-to-date information possible. Additionally, the Foundation works to bring the parent-patient perspective to researchers and industry as they work to bring clinical treatments to market.

About Genetic Alliance
Genetic Alliance, a non-profit organization founded in 1986, is a leader in deploying high tech and high touch programs for individuals, families and communities to transform health systems by being responsive to the real needs of people in their quest for health. The alliance is comprised of 10,000 organizations, 1,200 of which are disease and patient advocacy foundations and include community health programs, employee wellness programs, local nonprofits, religious institutions, and community-specific programs to grow and expand their reach and mission.

About LunaDNA
LunaDNA is the first health and genomic data platform owned by its community of personal health information donors. LunaDNA empowers individuals to share their health data for medical and quality of life research. As community owners in the LunaDNA platform, members share in the value created from health discoveries and medical breakthroughs. LunaDNA was created by the privately-owned Public Benefit Corporation, LunaPBC, founded in 2017 and headquartered in San Diego, California. The LunaPBC team, investors, and advisors are renowned in the patient-advocacy, health, and science fields, including several former chief executives of Illumina, industry academics, and financial executives.

The KCNT1 Epilepsy program page can be found at learn.lunadna.com/kcnt1.

For media inquiries, please contact media@lunadna.com.