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.

Genetics of Hair Color

Know Your Health: Genetics of Hair Color

By LunaDNA Contributor

Hair colors are passed down through generations. Sometimes the colors are predictable, and sometimes, unexpected colors occur through a genetic mutation. Learn about the genetics of hair color. 

Hair colors are a spectrum of hues that can range from white blond to coal black. Hair color is inherited, and many genes are involved in the process. Sometimes, unexpected hair color can occur in a child because of a genetic mutation. Some of the genes involved in hair color also influence eye color and skin color.  

Hair color is the result of genetics. Learn about the genetics of hair color and what causes different hair colors in this guide.  

  • How is Hair Color Determined? 
  • Is Hair Color Genetic? 
  • Is Hair Color Inherited? 
  • Can Hair Color Be Predicted? 
  • What Does Your Hair Color Mean?  
  • Brown Hair 
  • Black Hair 
  • Blond Hair 
  • Red Hair 

How Is Hair Color Determined? 

Two types of pigment, or melanin, determine hair color. An abundance of eumelanin colors hair black or brown, and an abundance of pheomelanin colors hair orange or red. Every hair color contains some amount of the darker pigment eumelanin. Low levels of eumelanin result in lighter hair, and higher levels result in darker hair.  

The genes responsible for hair color are neither dominant nor recessive — it is a matter of which genes are turned on or turned off. The hair color produced depends on the amount and type of melanin produced by melanocytes (melanin-forming cells). If receptors on the surface of the melanocytes are active, they produce, eumelanin, the pigment responsible for brown or black hair. If the receptors are inactive or blocked, they produce pheomelanin, the pigment responsible for orange or red hair.  

Jet-black hair has large numbers of tightly packed eumelanin. Red hair has large numbers of tightly packed pheomelanin. Blonde hair has both types of melanin, but in very small amounts and loosely packed. Variations lead to a wide range of shades within each hue. Hair color usually darkens as genes are turned on and off during childhood and puberty. Later in life, hair can turn gray and white as fewer pigment cells produce and store melanin. Gray hair has only a little pigment in it, while white hair has no pigment. 

Is Hair Color Genetic? 

Hair color is one of several physical traits that are genetic, or passed down through an individual’s DNA. Human DNA has millions of on and off switches along networks that control how genes function. Genes responsible for hair color come from both parents.  

Although the genes passed down from a child’s parents determine hair color, variations can result in a child having a different hair color than both parents. The genetics of hair color is the result of many genes working together to control the amount and type of melanin. Large amounts of very dense eumelanin produce black hair. Moderate somewhat dense amounts result in brown hair. Very little and thinly dispersed amounts result in blonde hair. If you have mostly pheomelanin with a little eumelanin, red hair is the result. Additionally, a variation in the blond gene can lead to premature graying.  

Is Hair Color Inherited from Mother or Father? 

Hair color comes from both parents through the chromosomes passed onto their child. The 46 chromosomes (23 from each parent) have genes made up of DNA with instructions of what traits a child will inherit. The results can be surprising. For example, black-haired parents can unknowingly each carry an unexpressed blond-hair gene that can pass to their fair-haired child. This explains why siblings can have different shades of hair.  

What Does Your Hair Color Mean? 

Hair color may be related to your ancestry. Darker hair is more prevalent among people in the southern hemisphere, and lighter hair is more common in the northern hemisphere. Darker hair is associated with areas of harsh sunlight, and lighter hair with areas of less sunshine. However, there are many exceptions due to genetics, migration of people, and other factors. 

Black and Brown Hair 

The most common hair colors around the world are black and brown, and it is estimated that over 90 percent of people have black or brown hair. Depending on the levels of pigment, colors range from an almost light-blond brown to dark black.  

Blonde Hair 

Blonde hair is produced by low levels of pigment (called eumelanin). Variation in the small amounts of eumelanin accounts for the wide range of blond shades, from platinum blond to dark golden blond. Many people with blond hair develop darker hair later in life. Natural light blond hair in adults is rare.  

Red Hair 

Red is the rarest hair color and is thought to be found in around 1 to 2 percent of people worldwide. In the Northern Hemisphere, 2 to 6 percent of people have red hair.  

Red hair ranges from light strawberry blond to deep burgundy, depending on the amount of pheomelanin (red pigment) and eumelanin (brown/black pigment) is present. Auburn hair has a higher concentration of pheomelanin, while chestnut hair has more eumelanin.  

Red hair has fascinated humans throughout history. In fact, the term “redhead” was first noted in the 16th century. In addition, frescos from ancient times depict Hades, the god of the underworld, as a redhead.  

Over time, scientific discoveries have led to a deeper understanding of the genetics that affects hair color. As advancements in genetics and overall health are made, more discoveries will undoubtedly unlock the mysteries of who we are, where we’re from, and why people around the world come in so many shapes, sizes, and hair colors. 

LunaDNA is bringing together people and researchers to better understand life, including genetic traits like hair color. Directly drive health discovery by joining the All About Me Study. The more people who come together to contribute health data for the greater good, the quicker and more efficient research will scale, and improve the quality of life for us all.  

Click here to get started.

Are Crooked Teeth Genetic?

Know Your Health: How Your DNA May Affect Your Smile

By LunaDNA Contributor

The causes of crooked teeth are varied. Our ancestry may have interesting clues to the genetics of crooked teeth. Learn about crooked teeth, and how DNA may play a role in overall teeth health. 

According to the American Association of Orthodontists, an estimated 4 million people wear braces on their teeth. However, misaligned teeth are a recent development in human evolution. Early human fossils from cavemen usually have well-aligned, uniform teeth. Some anthropologists believe the development of misaligned teeth occurred when our jaws began shrinking over time due to changes in our diet that required less chewing. Today, we know that some genetic factors, such as jaw size and number of teeth, can affect misalignment, but behaviors and environmental causes are also involved.  

Are Crooked Teeth Genetic?

Crooked teeth are common over the last few hundred years, yet skulls from humans that lived thousands of years ago have well-aligned teeth. Fossils show that cavemen didn’t have many dental problems despite the lack of toothpaste and floss. Today, dental consultations are recommended before the age of 8. Learn more about crooked teeth and its genetic connections, including:  

  • What Causes Crooked Teeth? 
  • Types of Crooked Teeth 
  • Are Crooked Teeth Genetic? 
  • Ancestry of Crooked Teeth 
  • Problems Associated With Crooked Teeth 
  • How to Fix Crooked Teeth 

What Causes Crooked Teeth? 

Crooked teeth do not always happen by chance. Habits and maladies that may lead to undeveloped jaws and crowded teeth include

  • tongue thrusting (also known as reverse swallowing) 
  • thumb sucking 
  • prolonged use of pacifiers 
  • mouth breathing (due to allergies, asthma, and other conditions that cause a person to breath through his or her mouth) 
  • open mouth posture 
  • tumors of the mouth and jaw 

These habits and maladies contribute to poor jaw growth, leaving many with misaligned teeth and undeveloped jaws. This improper development can limit the space available for teeth and can prohibit them from growing in the ideal position.  

An undeveloped jaw can lead to a mouth of crowded teeth. Since orthodontia work does not usually start until all permanent teeth come in, teeth might be pulled, because the jaw is deemed too small to accommodate all the teeth.  

Mouth breathing leads to the tongue not resting in the correct position on the roof of the mouth. This can in turn lead to an underdeveloped upper and lower jaw. An upper jaw improperly developed may restrict the airway further. This can keep the mouth open, which might exacerbate the problem.  

Reverse swallowing, also known as tongue thrusting, occurs when the tongue pushes forward and the lips push back when swallowing. A child swallows at least a couple times a minute, so pushing the tongue forward against the teeth can, over time, create a condition called open bite.  

Diet may be a factor too. In the 1930s, Weston Price, an American dentist, studied various groups around the world and found that those employing a primitive diet had little tooth decay, larger jaws, and straight teeth. Orthodontics became a specialty in 1900 in response to bad habits and maladies that children had during the Industrial Revolution. After the Industrial Revolution, people swapped out a natural diet, closer to what their ancestors had eaten, for one of more processed foods. It is possible that this softer diet hindered normal jaw growth because less jaw strength was required.  

Types of Crooked Teeth  

Crooked mouthfuls of teeth come in all shapes and sizes, but there are three general classes of malocclusions, which means misaligned teeth:  

Class 1 occurs when the upper teeth slightly overlap the lower teeth, but the bite is normal. This is the most common type of crooked teeth.  

Class 2 occurs when the upper teeth and jaw severely overlap the lower teeth and jaw and is sometimes called an overbite. Difficulties in chewing can be painful and can lead to headaches and temporomandibular joint dysfunction (TMJ), a painful condition of the joint that connects your jaw to the side of your head.  

Class 3 occurs when the lower teeth project beyond the front of the upper teeth when the jaw closes and is sometimes called an underbite. Those with underbites can have trouble chewing and often suffer from headaches. Overtime, an underbite can cause TMJ.  

Are Crooked Teeth Genetic? 

Humans today are nearly identical to their ancestors who had straight teeth. This suggests that crooked teeth are partly a result of evolution. Some experts believe that the Industrial Revolution, which happened about 150 to 200 hundred years ago, triggered people to have crooked teeth.  

Interestingly, most wild mammals have straight teeth. Some researchers believe that when culture shifted from rural to manufacturing, something went awry. Others think it happened thousands of years earlier, when humans transitioned from hunting and gathering to farming. Ancestral upper and lower jaws of hunter-gatherers were more often better aligned than those of later humans. 

Ancestry of Crooked Teeth 

With the introduction of the modern baby bottle in the mid-1800s, human populations became less reliant on breastfeeding their young. Research has shown that the muscles required for an infant to breastfeed are not used as extensively when a child is bottle-fed. At the end of the 1940s, German dental experts Dr. Wilhelm Balters and Dr. Adolf Müller discovered that babies who had been breastfed had significantly fewer crooked teeth. Studies continue to be conducted to determine if there is a link between the use of bottles and the impact it has on jaw development and crooked teeth.  

Problems Associated With Crooked Teeth 

Crooked teeth make it harder to chew and can put a strain on the jaw, increasing the risk of breaking a tooth. It is also harder to clean crooked teeth, leaving the opening for cavities and other dental maladies. Protruding teeth can rub against and wear down other teeth.  

Beyond this, crooked teeth can impact overall health. This decreases the chance of bacteria going into the pockets of the gums, which can lead to gum disease. Some research suggests that, when bacteria is left untreated, it can enter the bloodstream and may lead to heart disease, diabetes, or stroke.  

While we know some genetic causes for tooth issues, much is still unknown about the connections between genes and dental problems. Researchers are hopeful that recent discoveries will open the door for the development of new and improved dental- and orthodontic-care tactics and treatments.  

LunaDNA is bringing together people and researchers to better understand life, including genetic conditions like crooked teeth. Directly drive health discovery by joining the All About Me Study. The more people who come together to contribute health data for the greater good, the quicker and more efficient research will scale, and improve the quality of life for us all.  

Click here to get started.

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.