Advancing Skin Health in People With Down Syndrome: A New Clinical Trial Seeks Participants

A photo of Benjamin Ungar, MD, Director of the Alopecia Center of Excellence at Mount Sinai and a study investigator.

“Families often tell us that skin disease affects much more than the skin,” says Benjamin Ungar, MD, Director of the Alopecia Center of Excellence at Mount Sinai and a study investigator. “These diseases can be very uncomfortable to live with, and that can affect your confidence, sleep, school work, and participation in everyday activities.”

Researchers at the Icahn School of Medicine at Mount Sinai and Columbia University Medical Center are conducting a pioneering study to evaluate potential treatments for inflammatory skin diseases in people with Down syndrome. They aim to set new standard-of-care protocols for treating atopic dermatitis (eczema) and alopecia areata in this patient population.

For many people with Down syndrome, skin conditions can be more than an occasional irritation. Chronic inflammation, persistent itching, recurring rashes, and autoimmune hair loss can affect sleep, daily activities, social interactions, and overall quality of life.

Yet despite the burden these conditions place on individuals and families, there has been limited research focused specifically on treating inflammatory skin diseases in the Down syndrome community.

Now, Emma Guttman-Yassky, MD, PhD, Waldman Professor and Chair of Dermatology at the Icahn School of Medicine, together with Dusan Bogunovic, PhD, professor of pediatric immunology at Columbia University Vagelos College of Physicians and Surgeons, are working on a National Institutes of Health (NIH)-sponsored clinical trial examining a medication approved by the Food and Drug Administration, abrocitinib, for atopic skin diseases and alopecia areata in adults and adolescents with Down syndrome

“Given how common inflammatory skin diseases are in this population, particularly atopic dermatitis and alopecia areata, we want to ensure that safe and effective treatments are available, and that we specifically understand the effects that they have on the immune response in people with Down syndrome,” says Dr. Guttman.

Understanding inflammation in Down syndrome

Researchers have increasingly recognized that people with Down syndrome may be more likely to experience inflammatory and autoimmune conditions. Skin disorders, including eczema and other atopic diseases, can be particularly common and difficult to manage, often with higher levels of systemic inflammation in this population.

While many treatments are available for inflammatory skin conditions in the general population, there is still much to learn about how effective these therapies are for people with Down syndrome.

“Families often tell us that skin disease affects much more than the skin,” says Benjamin Ungar, MD, Director of the Alopecia Center of Excellence at Mount Sinai and a study investigator. “These diseases can be very uncomfortable to live with, and that can affect your confidence, sleep, school work, and participation in everyday activities. By studying these conditions more closely, we hope to identify treatment approaches that improve quality of life.”

The trial is designed to help answer important questions about inflammation, treatment response, and long-term management of atopic skin diseases in individuals with Down syndrome.

A study built with the community in mind

What makes this effort unique is its emphasis on community engagement, experts say.

Before launching the study, researchers sought input directly from people with Down syndrome, family members, caregivers, friends, and advocates. The study team believes that listening to those with lived experience is essential to designing research that is meaningful, accessible, and responsive to the needs of the Down syndrome community.

Why participation matters

Clinical trials are the foundation of medical progress. Breakthrough treatments typically begin with patients and families who choose to participate in research.

By enrolling in this study, participants may help researchers:

  • Better understand inflammatory skin disease in Down syndrome.
  • Evaluate the effectiveness of this treatment in this population.
  • Advance scientific knowledge about immune-related conditions in people with Down syndrome.
  • Inform future treatment approaches and standards of care.

“Importantly, participation also helps ensure that people with Down syndrome are represented in research,” says Dr. Ungar. “Historically, many populations with unique medical needs have been underrepresented in clinical studies, limiting opportunities to develop evidence-based care tailored to their experiences.”

Looking toward the future

While no single study can answer every question, researchers hope this trial will be an important step toward improving the understanding and treatment of inflammatory skin diseases in individuals with Down syndrome.

“As the study continues, we remain committed to partnering with the Down syndrome community and advancing research that reflects the priorities of patients and families,” says Dr. Ungar.

Interested in learning more?

Email Giselle Singer, Clinical Research Program Director, at giselle.singer@mssm.edu for details about potential enrollment and research opportunities. Our team is working closely with the Down syndrome community to ensure participant experiences and perspectives help in the success of the study and future research efforts.

 

Could My Hair Loss Be Alopecia?


Hair loss—called alopecia areata—can be upsetting. If it affects you, you may feel as if you’re the only one, but it’s more common than you think.

In this Q&A, Benjamin Ungar, MD, Director of the Alopecia Center of Excellence at Mount Sinai, explains the condition, its risk factors, and who to contact for treatment.

What is alopecia areata?

Alopecia areata is an autoimmune disease that causes you to lose your hair, mostly on the scalp. An autoimmune condition means your body’s own immune system is attacking a certain part of your body. In this case, the system attacks healthy hair follicles. Alopecia areata often starts with one or more circular patches about the size of a quarter. Hair may disappear suddenly, over just a few days, or it may fall out slowly, over weeks or months, according to Dr. Ungar. This condition can spread to other parts of the body, such as the eyebrows, eyelashes, beard, and extremities. The condition is not linked to food. There’s nothing you should eat—or avoid—to prevent it. If you are an alopecia patient, you can eat whatever you want.

What causes alopecia? Who is most at risk?

This condition does not discriminate, Dr. Ungar says. It affects people of all ages, genders, and backgrounds. It often starts in childhood or adolescence but can affect those well into adulthood.

Alopecia areata can be triggered by a significant event, such as an illness or trauma, or it can arise due to genetics or a family history of eczema or another allergy. We see more alopecia areata in families of patients who have had the condition. We also see it in families that have eczema. While some people think it can be caused by stress, there is no scientific data to back that up. Alopecia is not contagious, according to Dr. Ungar. About seven million Americans have alopecia areata, including men, women, and children of all ethnic groups.

Can hair loss affect you emotionally?

If you’re feeling anxious or depressed over your hair loss, that’s not unusual. Hair can be an important part of our identity, Dr. Ungar says. And baldness—in patches or all over your head—can be devastating. It can make you feel self-conscious and unhappy about your appearance. According to the National Institute of Mental Health, people with long-term alopecia areata are at a higher risk of depression. So, if you’re feeling sad or uncomfortable about the condition, you are not alone.

Should I see a doctor if I think I have alopecia?

You should see a doctor as soon as you notice a problem. Some mild forms of the disease improve on their own, but most people need medical intervention, according to Dr. Ungar. I recommend seeing a specialist, because many primary care physicians don’t know how to treat alopecia. At the Alopecia Areata Center of Excellence at Mount Sinai, we have special expertise in diagnosing and treating alopecia areata and cicatricial alopecia.

We have found that patients with alopecia have more systemic inflammation than patients with other skin conditions, such as psoriasis or eczema. Over a long period,  inflammation that is systemic—affecting many or all parts of the body—can cause a number of problems including heart disease, arthritis, Alzheimer’s disease, and cancer. Getting treatment early can help prevent alopecia from developing into these conditions.

How is alopecia treated?

The first step is to evaluate your symptoms and the type of cells that are causing the inflammation. Dermatologists will then use a variety of treatments, including systemic (oral or biologic), topical, and injected anti-inflammatory medications. “At Mount Sinai’s Alopecia Areata Center of Excellence, we are researching new treatments for the conditions, so we may be able to include you in a clinical trial,” says Dr. Ungar.

The Pros and Cons of Daylight Saving Time for Your Health

Photo of a woman looking out the window with her coffee in the early morning

Every March, on the second Sunday, we turn the clocks ahead one hour to begin daylight saving time, which gives us one more hour of light during the evening when the weather is warmest. And every November, on the first Sunday, we turn the clocks back to resume permanent standard time.

The disruptions to sleep patterns and the collective grogginess in the week or so afterward are discomforts that we’ve gotten used to. But does it have to stay that way?

In this Q&A, Andrew Varga, MD, PhD, a neuroscientist and physician at the Mount Sinai Respiratory Institute Integrative Sleep Center, discusses the pros and cons of keeping the clocks set permanently at daylight savings time or permanent standard time.

“The bottom line is that we can’t change the amount of daylight we get,” he says. “But we, as a community, can decide when we want those hours of daylight to occur.”

A portrait of Mount Sinai sleep specialist Andrew W. Varga, MD, PhD

Andrew W. Varga, MD, PhD

What are the health issues surrounding switching to daylight saving time?

Changing the clocks twice a year creates lots of problems, especially at the point of the time change. There are increased spikes and incidents of adverse health outcomes at those times of year in the spring and fall when we make the time change.

Twice a year, everyone is forced to make a dramatic adjustment in their circadian rhythm, which is your internal biological clock that governs key functions, such as your sleep/wake cycle, eating habits, digestion, and body temperature. It’s been documented that making the change has a number of adverse consequences, such as an increase in heart attacks and cardiovascular incidents at those times. And because people are sleepy, there’s a spike in the statistics in auto accidents, as well.

What are the alternatives?

It seems everybody is on the same page that we should stick with one thing, and not change it. But there are two camps—one is for making daylight saving time permanent, and the other is to stick with permanent standard time year-round.

The American Academy of Sleep Medicine believes we should stick with permanent standard time, which is what we observe in the fall and winter. They argue that permanent standard time is more in line with people’s natural circadian rhythms.

It’s worth remembering that we can’t change the amount of daylight in June or December, we can only decide where we want that light to be. The people who are proponents of permanent daylight saving time like the fact that in June you have light as late as 8:30 pm. If we were to change it to permanent standard time, you’d only have daylight until 7:30 pm. But you would gain it in the morning, so sunrise would be around 4:30 am instead of 5:30 am.

What would happen if we changed to permanent daylight saving time?

If we shifted to permanent daylight saving time in the winter, we would gain an hour of daylight in the afternoon but lose it in the morning. The sun would set at 5:30 pm instead of 4:30 pm, but it wouldn’t rise until 8:30 am. So most people would be getting up and commuting to work in the dark, and children would be going to school in the dark.

In addition, the further north you are, the more drastic the differences in the amount of light. For example, in Minnesota, the sun would rise about 20 minutes later than in New York City, at almost 9 am. In Miami, the sun would rise about a half hour earlier than New York—at about 8 am.

The United States did experiment during the energy crisis with switching to permanent daylight saving time. Congress passed the Emergency Daylight Saving Time Energy Conservation Act in December 1973, and at first, the public didn’t react that much. But as the consequences began to be felt over the course of the year, the public outcry was significant, and the law was repealed by the fall of 1974.

What is the argument for making standard time permanent?

Most medical authorities agree that sticking to standard time would be best from a health and safety standpoint. The American Academy of Sleep Medicine has released a position paper that says the twice-a-year time change “incurs significant public health and safety risks, including increased risk of adverse cardiovascular events, mood disorders, and motor vehicle crashes.” The paper makes an argument that standard time year-round would best align with human circadian rhythms. The time that we habitually wake up, go to bed, and do certain activities, such as commuting, is more in line with standard time.

It’s interesting to note that Arizona stays on permanent standard time and has done so since 1968. I’m not aware of any data that shows whether they are realizing any health benefits. However, they are routinely not included in national traffic accident statistics due to this fact.

Worried About CTE? What to Know About Risk, Symptoms, and Diagnosis

A football player in a red helmet looks down the field at a fellow player, who is blurred in the background

You may have heard about chronic traumatic encephalopathy (CTE), a brain disease linked to repeated hits to the head. CTE has been found in some former NFL players and others who had repeated head impacts.

If you or a family member played contact sports, you may wonder about the risk of CTE. The risk depends in part on how often and for how long a person experienced repeated head impacts. Even people with extensive exposure do not always develop CTE.

In this Q&A, Kristen Dams-O’Connor, PhD, Director of the Brain Injury Research Center of Mount Sinai, explains what researchers know about CTE, what may affect your risk, and what you can do if you are concerned.

headshot of Kristen Dams-O’Connor, PhD, Director of the Brain Injury Research Center of Mount Sinai

Kristen Dams-O’Connor, PhD

How do I know if I’m at risk for CTE?

The biggest known risk factor for CTE is extensive exposure to repeated hits to the head over a long period of time. Researchers call these repetitive head impacts.

American football is the best-studied example. Repeated head impacts can also happen in other contact sports, including soccer, and possibly during military service or from domestic violence.

In football, the risk appears to increase based on how many years a person played, the level at which they played, and their position. For example, someone who played football briefly as a child or teenager would have a very different level of exposure than an NFL player who experienced repeated impacts for many years. If someone played in a position that exposed them to more impact, like a lineman, that may also carry greater risk.

Just because someone experiences repetitive head impacts does not mean they will get CTE. In fact, most people who have played football never develop CTE, and it isn’t clear yet why some do but others don’t.

Can one concussion cause CTE?

Current evidence does not suggest that one traumatic brain injury, whether it’s a mild concussion or more severe traumatic brain injury, puts you at significant risk for CTE. Researchers have found very few cases of CTE in people whose only known exposure was a single traumatic brain injury. The concern is greater when a person has repeated head impacts over time. These impacts do not have to cause diagnosed concussions, it is the extent and duration of repetitive head impacts that seems to matter most.

Can I be tested for CTE?

There is currently no test that can definitively diagnose CTE while a person is alive. CTE can only be diagnosed by examining brain tissue under a microscope after death.

Researchers are studying ways to diagnose CTE during life. These include blood tests that may detect signs of disease and specialized brain imaging. These tools are still being studied and cannot currently diagnose CTE in patients.

What symptoms should I be concerned about?

People who were found to have CTE after death have experienced symptoms such as:

  • memory changes
  • acting without thinking
  • irritability
  • trouble controlling emotions
  • poor decision-making
  • problems with planning, organizing, and completing tasks

Having these symptoms does not mean you have CTE. They are common after traumatic brain injuries and can also occur with dementia and many other conditions. At this time, researchers cannot tell from symptoms alone whether a person has the brain changes associated with CTE.

Substance use, including alcohol and drug use, can also contribute to symptoms during life, and may also contribute to the deaths of some people who are later diagnosed with CTE. But these concerns should not automatically be attributed to CTE, and many can be treated.

What can I do if I’m worried about CTE?

First, do not assume you have CTE. Problems such as memory difficulties, emotional changes, depression, or trouble controlling anger may have other causes, and some can be treated effectively. Also, fearing you have CTE may cause psychological problems. For example, research has found that some people who fear they have CTE experience depression and even suicidal thoughts and behaviors. Instead, focus on getting treatment for the symptoms you are experiencing rather than assuming CTE is causing them.

Behavioral and psychological treatments may help with some symptoms. For example, the Brain Injury Research Center of Mount Sinai offers neuropsychology and brain injury rehabilitation services that can help patients manage problems with thinking, memory, emotions, and behavior. Treatment may include psychotherapy, cognitive rehabilitation, and learning strategies for managing emotions. Medications may also be appropriate for certain symptoms.

What to Know About mFlusiva, the New mRNA Flu Vaccine

For the first time, adults age 50 and older in the United States can get an mRNA flu vaccine.

The U.S. Food and Drug Administration (FDA) approved mFlusiva®, the first mRNA flu vaccine, in August 2026. Moderna makes mFlusiva. It uses the same basic vaccine technology as mRNA COVID-19 vaccines. But it targets influenza.

Unlike traditional flu vaccines, mFlusiva does not contain a live or killed influenza virus, or pieces of the virus. Instead, it uses messenger RNA (mRNA). This gives temporary instructions to your immune system, your body’s natural defense system. The instructions help it learn to recognize influenza.

This new approach might even have an edge over traditional flu vaccines.

“There is some evidence that suggests mFlusiva may offer somewhat better protection against the flu than traditional flu vaccines,” says Rebecca Choudhury, MD, Assistant Professor of Medicine (Infectious Diseases), Icahn School of Medicine at Mount Sinai.

How does mFlusiva work? How well does it protect against the flu? What do we know about safety and side effects? Dr. Choudhury explains the new mRNA flu vaccine and gives advice on getting your flu shot.

Rebecca Choudhury, MD, Assistant Professor of Medicine (Infectious Diseases), Icahn School of Medicine at Mount Sinai

How does mFlusiva work, and how is it different from traditional flu vaccines?

Traditional flu vaccines show the influenza virus or parts of it to the immune system. This teaches the immune system to recognize and fight the virus later. Depending on the vaccine, that may mean a killed virus, a weakened virus, or pieces of the virus.

mFlusiva is an mRNA vaccine. It does not contain a living or dead virus. It also does not contain viral parts. The vaccine uses messenger RNA designed to produce influenza surface proteins called hemagglutinin.

An image of the mFlusiva mRNA flu vaccine. Image credit: Moderna

It’s the same basic principle used by mRNA COVID-19 vaccines. But the target is different. COVID-19 vaccines tell cells to make the coronavirus spike protein. mFlusiva tells cells to make an influenza surface protein.

“This flu vaccine is creating a different protein, but the principle of how it works is the same,” says Dr. Choudhury.

Is mFlusiva more effective than traditional flu vaccines?

In one trial in adults age 50 and older, about 2 percent of people who received mFlusiva developed influenza confirmed by lab testing within six months of vaccination. By comparison, 2.8 percent of people who received a standard-dose flu vaccine developed influenza. The mFlusiva group had a 27 percent lower rate of flu.

For adults 65 and older, there is an important caveat. People in this age group typically receive a high-dose or adjuvanted flu vaccine rather than the standard-dose vaccine used in this trial. An adjuvanted vaccine has an added ingredient that helps the vaccine work better.

Studies comparing the immune response to mFlusiva with a high-dose flu vaccine have been encouraging. Immune response means how the body reacts to a vaccine to build protection.

“However, a stronger immune response does not necessarily mean better protection against actually getting the flu,” Dr. Choudhury notes.

Another study is expected to directly compare clinical outcomes between mFlusiva and a high-dose flu vaccine in adults 65 and older.

Is mFlusiva safe? What are the side effects?

Clinical trials so far suggest mFlusiva has a safety profile similar to traditional flu vaccines for serious adverse events. These are harmful or unexpected medical problems or side effects.

In a trial comparing mFlusiva with a standard-dose flu vaccine, serious vaccine-related adverse events were very rare. They occurred at similar rates in both groups.

Researchers also looked closely at heart-related events because of concerns previously raised about mRNA COVID-19 vaccines.

One participant who received mFlusiva developed cardiomyopathy and pericarditis. These are two heart-related conditions. This happened about three months later. It was unclear whether the vaccine caused them. One participant in the traditional flu vaccine group also developed pericarditis.

Dr. Choudhury says current data do not show a higher risk of these events with mFlusiva than with traditional flu vaccines.

The main difference so far is short-term side effects. Injection-site reactions, headaches, body aches, and fatigue occurred more often with mFlusiva than with traditional flu vaccines. This was seen across multiple studies.

“These symptoms are generally relatively mild, they go away on their own without any sort of treatment,” Dr. Choudhury says.

What are the advantages of an mRNA flu vaccine?

“The advantages are less so in how the vaccine itself works, and more so in how the vaccine is made,” Dr. Choudhury says.

Each year, scientists must predict which influenza strains will circulate months before flu season. Traditional flu vaccines take several months to produce. That can make it hard to change the vaccine if the strains that circulate are different from those expected.

Because mRNA vaccines do not rely on growing influenza virus in a lab, they can be produced more quickly. Dr. Choudhury says this could give vaccine makers more flexibility. They can update an mRNA vaccine when an unexpected flu strain begins circulating.

That flexibility could help produce flu vaccines that more closely match the strains actually circulating. It could also potentially improve how well seasonal flu vaccines protect people.

Who can get mFlusiva, and who may want to consider it?

mFlusiva is approved for adults age 50 and older. Based on the evidence so far, Dr. Choudhury says adults ages 50 to 64 may have the clearest reason to consider it.

People ages 50 to 64 typically receive a standard-dose flu vaccine. That was the same type used in the clinical trial. The trial found a lower rate of influenza among mFlusiva recipients.

Dr. Choudhury says mFlusiva may be especially worth considering for adults ages 50 to 64 with long-lasting (chronic) health conditions. These conditions can raise the risk of severe influenza. They include high blood pressure (hypertension), diabetes, chronic kidney or liver disease, obesity, or chronic lung disease.

Adults 65 and older can also receive mFlusiva. However, researchers are still gathering stronger clinical evidence. The studies compare mFlusiva with the high-dose or adjuvanted flu vaccines typically recommended for this age group.

Still, choosing between vaccines should not stop you from getting vaccinated.

“Ultimately, the best flu vaccine is the flu vaccine that you can get,” Dr. Choudhury says. If mFlusiva is not easy to get, she recommends getting an appropriate flu vaccine from your doctor’s office, pharmacy, or workplace rather than going without vaccination.

Can an mRNA flu vaccine change your DNA?

No. The mRNA in mFlusiva cannot change your DNA. It also cannot become part of your genetic code.

Dr. Choudhury says this has confused some people. Some worry that mRNA could reprogram their genetic code. But that’s not how the technology works.

Like other mRNA vaccines, mFlusiva gives cells temporary instructions to make a specific protein. Here, that protein is an influenza surface protein. The mRNA is then quickly broken down by the body.

“The mRNA in mFlusiva cannot become part of your genome,” says Dr. Choudhury.

When should you get your flu shot?

Flu season typically begins around October. Infections often peak around December. But the timing can vary from year to year.

Your immune system needs about two weeks after vaccination to build protection. Dr. Choudhury recommends planning ahead. The same timing applies to mFlusiva.

“I typically get the flu vaccine myself around early October,” Dr. Choudhury says.

Getting vaccinated is important even if you don’t consider yourself at high risk for serious problems from the flu. Influenza can cause severe illness that requires a hospital stay. Even a less serious case can leave you sick in bed for a week or longer.

“Getting your flu shot is a very easy, safe and effective step you can take to reduce your risk of getting sick and reduce your risk of making others sick,” Dr. Choudhury says.

What Are the Signs My Loved One Could Have Dementia?

An adult daughter sits with her senior father with her arm around his shoulder as they hold hands

As your loved one gets older, they may experience slower thinking, difficulty with names, and forgetfulness. But how can you tell the difference between normal age-related changes and those caused by dementia?

Dementia includes a range of disorders, including Alzheimer’s disease, the most common form of dementia, which is caused by abnormal protein deposits in the brain. While there are different types and causes of dementia, the symptoms are similar.

A headshot of Samuel Gandy, MD, PhD, Mount Sinai neurologist and prominent Alzheimer’s disease researcher

Samuel Gandy, MD, PhD

In this Q&A, Samuel Gandy, MD, PhD, a Mount Sinai neurologist and prominent Alzheimer’s disease researcher, explains common signs that your loved one may have dementia.

What signs could mean my loved one is developing dementia?

Possible signs of dementia include changes in memory and thinking that begin to interfere with a loved one’s everyday life. Changes that affect everyday activities may be noticed in a variety of ways.

For example, your loved one may:

  • Ask the same question repeatedly within a few minutes.
  • Forget to pay bills.
  • Become lost in familiar places.
  • Not recognize that anything has changed.

Why does my loved one not recognize these changes?

Not everyone who is developing dementia recognizes changes in memory or thinking. Some people notice changes in their own memory and decide to see a doctor. Others may not recognize that anything has changed. In those cases, family members or friends may be the first to notice problems, especially when changes begin to interfere with everyday life.

What factors may increase my loved one’s risk of dementia?

Several factors can make dementia more likely, especially if your loved one:

  • Is between the ages of 65 and 72. Alzheimer’s disease, the most common cause of dementia, typically occurs after age 65. Less common forms of Alzheimer’s disease and other types of dementia, such as frontotemporal dementia, can occur at younger ages.
  • Has a family history of dementia. If your loved one has a parent or sibling with dementia, their risk may be about twice as high as it would be otherwise.
  • Carries certain forms of a gene called APOE, which can substantially increase the risk of Alzheimer’s disease. Having two copies of certain forms of APOE can increase risk by as much as 12 times. Genetic testing for dementia is available at Mount Sinai.
  • Has experienced problems with blood flow to the brain, such as having a stroke. Multiple strokes are known to cause vascular dementia, a type of dementia associated with poor blood flow to the brain.
  • Has diabetes and/or is obese

What should I do if I think my loved one has dementia?

Don’t assume they have dementia. Speak to them gently. Tell them you have noticed they seem to have some trouble remembering things. Ask them if you can make an appointment with their primary care doctor and if it’s okay for you to go with them. In the meantime, take notes of what you are noticing to share with their doctor.