How to Safely Observe a Solar Eclipse

Updated on Mar 27, 2024 | Featured, Your Health

Mount Sinai researchers used state-of-the-art imaging to closely examine a patient’s retina after the solar eclipse of August 2017 burned a crescent shape into her eye.

The tricky thing about a partial solar eclipse is that if you look at it directly, you won’t feel any immediate pain. But the sun’s energy can still permanently damage your retina—and your vision.

In this Q&A, Avnish Deobhakta, MD, Associate Professor of Ophthalmology at the New York Eye and Ear Infirmary of Mount Sinai, explains how to safely look at a solar eclipse and the potential harm that can occur if you do not follow basic precautions for viewing this spectacle, which will take place Monday, April 8.

Avnish Deobhakta, MD

Why should I avoid looking at a solar eclipse? What damage can it do to the eye?

The solar eclipse is a very, very dangerous event for your eyes. Light beams from the sky carry a lot of energy that can be transmitted into the retina and damage it. Usually, the sun is very bright and it’s almost impossible to look directly at it without discomfort. But during a solar eclipse, you can look at the sun for a long period of time and be fooled into thinking that it’s safe because it doesn’t hurt. This is because most of the sun’s rays are blocked off by the eclipse. But the sun’s rays that you see during a partial eclipse are the most damaging to the eye. It’s almost like you’re getting a disproportionate helping of the most energetic and damaging rays because all of the other rays are blocked and the ones that make it through are not so bright that they force you to look away.

What can happen if I take a quick peek?

Even a very quick look at a solar eclipse can burn your retina. During the last solar eclipse, in 2017, one of my patients looked at the eclipse and sustained damage to her retina. She thought she was using protective glasses—but they weren’t the right type. She still has a blank section, a visual blind spot, in the center of her visual field. I used groundbreaking technology to take a close look at the damage to her eye. The damage was in the exact shape as the moon—a crescent shape. We were one of the few sites that had that prototype machine and could take that photo. It may not help the patient, but it gave us new information about the damage caused by exposure to the sun’s rays. Other people have been known to have visual distortions in part of their visual field. Even with a total solar eclipse, there will always be a moment when the sun re-emerges, and some of those rays can damage the retina.

Is the damage permanent?

Yes. We cannot fix it. At the New York Eye and Ear Infirmary of Mount Sinai, we have the technology to take an image and see the part of the retina that is damaged, but there is nothing a doctor can do to treat it. The damage doesn’t go away. Even decades later, your vision will still be impaired.

Can I look using a mirror?

No. Mirrors reflect the damaging sun rays. Looking in a mirror is the equivalent of looking directly at the solar eclipse–it’s not safe.

What about special sunglasses? Are those safe?  

It’s fine to use approved sunglasses that have the right filters. However, you have to make absolutely sure that you have those filters, and you need to obtain them from a reputable vendor. If you are not sure of either of those things, then you should not look at the eclipse, and instead look at a projection of the rays. Most of the people I’ve seen whose eyes were damaged by looking at a solar eclipse thought they were wearing the right glasses. And if you think you’re protected, you’re going to look longer, which increases the chances—and the extent—of damage. (Click here to learn more about safe viewing on the JAMA Patient Page created by the Journal of the American Medical Association.)

How about using a camera, like the one on my phone?

Generally speaking, if you look through your phone camera, you’re looking at an image rendered through the camera. You’re not actually looking directly at the sun, which means, theoretically, that it is safe. What worries me is not the phone camera—it’s that when people hold the camera up toward the sun, they might look around it for even just a brief period of time and can end up with a damaged retina. Think about a concert, when people have their phones out and are recording the concert, but they’re also looking around and watching the band on the stage. That’s not safe during a solar eclipse.

Is there a safe way to look at a solar eclipse?

Pinhole cameras are safe. They reflect light off an object and onto a surface such as a cardboard box or a wall. That way you’re not looking at the rays themselves, you’re looking at a projection of what the rays look like. You can watch a pinhole camera image as long as you’d like; you can even watch the entire solar eclipse reproduced on a pinhole camera and it’s perfectly safe. (Click here to get instructions on how to make your own pinhole camera.)

What if I’m outside during a solar eclipse but I don’t look up?

I don’t want anyone to think if they’re just in the presence of a solar eclipse they’re going to go blind. It’s okay to be outside during a solar eclipse, just be very careful. Be very mindful not to look directly at the sun in any way–and certainly not on purpose. The problem is that if you don’t know what’s going on and the sky looks different all of a sudden, your first instinct is to look up at the sun. The first instinct of all humankind is to look up. But that instinct can be dangerous during a solar eclipse.

Learn more about patient services at New York Eye and Ear Infirmary of Mount Sinai

New Opera on a Gender-Affirmation Pioneer Is Authored by Mount Sinai Neuroradiologist

Updated on Nov 14, 2025 | Community, Engagement, Featured

A new opera, Lili Elbe, tells the story of one of the earliest recipients of gender-affirming surgery in 1930. The opera is a collaboration of Grammy Award-winning composer Tobias Picker and Aryeh Lev Stollman, MD, a neuroradiologist at Mount Sinai, who wrote the story and lyrics. Photos: Edyta Dufaj

“It’s a love story,” says Aryeh Lev Stollman, MD, a neuroradiologist at Mount Sinai, and the librettist for a new opera, Lili Elbe, which tells the story of one of the earliest recipients of gender-affirming surgery, in 1930. The opera, commissioned by the Theater St. Gallen of Switzerland, was named “Best World Premiere of 2023” at the OPER! AWARDS ceremony on January 29 at the Dutch National Opera in Amsterdam.

Lili Elbe focuses on a successful Danish painter who was married to another painter, Gerda Wegener. Though their marriage was eventually annulled by the King of Denmark and Lili’s name and sex were legally changed, they remained in love with each other. Lili’s case drew international attention, and a semi-autographical account of her story was captured in a book, Man Into Woman: An Authentic Record of a Change of Sex. Another book, The Danish Girl, was loosely based on her story and has become an important text in LGBQT+ literature and the basis for a film.

“We based our story on historical sources,” emphasizes Dr. Stollman. “The Danish Girl was highly fictionalized. But Lili Elbe was quite famous in her day, so we relied on her own writings and news accounts from the time.”

The opera Lili Elbe, in addition to being acclaimed for its artistry, is a significant milestone. It stars Lucia Lucas, a baritone, in the first grand opera for and about a person with trans experience. The Grammy Award-winning composer Tobias Picker, who is married to Dr. Stollman, befriended Lucia when he cast her in Don Giovanni in a Tulsa Opera production—the first time a transgender singer had played the leading role in an American opera. Mr. Picker, Dr. Stollman, and Lucia wanted to collaborate on an original project, and the story of Lili Elbe was chosen.

Tobias Picker, left, and Aryeh Lev Stollman, MD, taking a bow after a performance of the new opera at the Theater Saint Gallen in Switzerland. “This resonates with our work as physicians, health care workers, and support staff, because behind our work is love for humanity,” says Dr. Stollman. “We serve people, no matter their physical appearance, their background, or gender identity. And we do it through all types of difficult times and situations.”

“Tobias asked me to write the libretto—or the story and lyrics,” Dr. Stollman says. “But I worked very closely with Lucia as the dramaturg, to gain the insight of her experience and authenticity.” This is the second time Mr. Picker and Dr. Stollman have collaborated. The first was the inspiring opera Awakenings, based on the story of Oliver Sacks, MD, and his efforts to treat patients with sleeping sickness. That opera opened in June 2022 at the Opera Theatre of Saint Louis.

“Like Awakenings, we wanted Lili Elbe to have a mythic undercurrent,” Dr. Stollman says. “In Awakenings, we used the story of Sleeping Beauty. In Lili Elbe, the myth of Orpheus leading his lover, Eurydice, out of the underworld is a motif that reoccurs. I believe that myths have a strong emotional truth. In the myth, Orpheus is saying, ‘Don’t look back, you cannot return to your old life, but you are coming into a new life.’ And our characters are always moving to the future, to a new life, a new realization. And that’s the mythological underpinning.”

Lili Elbe discovers her true nature as a woman when her wife, Gerda, asks her to stand in for a female model who was delayed for a painting session. Gerda is entranced with the beauty of her husband, then called Einar Wegener, and it is she who bestows the name Lili. And as Lili embraces her identity, she says, “When you paint me now, I feel I have always been her.” Lili becomes a muse to Gerda, whose paintings of Lili win acclaim. But Gerda wrestles with how much space to allow Lili in their marriage. At first, she insists that Lili transition back to Einar in the evening. But as Lili makes her true identity known among their circle of friends, Lili wants to experience all the feelings of womanhood, including marriage and motherhood. And even though their marriage is annulled and they become involved with other lovers, their love for each other endures.

Lili becomes engaged to Claude LeJeune, a young man whose passion is creating perfumes from flowers through a delicate process called enfleurage. The symbolism of the flowers living on becomes a motif as Lili dies as a result of complications of one of her surgeries. And the life and story of Lili Elbe still resonate today.

“The opera is more than about love with a transgender person,” Dr. Stollman says. “It’s about love and transcending difficulties. It’s about a tragic heroine’s journey that starts with self-knowledge. And it’s about loss, because Gerda loses Lili. But also because Lili dies in the end, as many tragic heroines do.”

The staging and choreography of the opera are innovative, witty, and symbolic. As Gerda exhibits her paintings of Lili, they are symbolized by actors suspended above the stage, swirling in evocative poses. The prominent German newspaper Die Welt gave it an enthusiastic review, calling it “emotionally gripping, a delicate work of musical theater that unfolds as an Art Nouveau arc, amidst a bright, symbolist stage.” A leading Austrian paper, the Voralberger Zeitung, called it “an emotionally charged masterpiece.”

Dr. Stollman related the theme of love transcending all to the mission of Mount Sinai, which was founded to care for underserved people and is home to the Center for Transgender Medicine and Surgery, a world leader in gender-affirming care. “This resonates with our work as physicians, health care workers, and support staff, because behind our work is love for humanity. We serve people, no matter their physical appearance, their background, or gender identity. And we do it through all types of difficult times and situations.”

View the trailer here
Watch the full opera, courtesy of OperaVision, co-sponsored by the European Union, through June 8, 2024
Read about an earlier collaboration that produced the opera Awakenings, which made its debut in June 2022

At the Mount Sinai Morningside Spine Program, the Personal Touch Is Key to Healing

Updated on Mar 5, 2024 | Featured, Mount Sinai Morningside, Your Health

Team members at the Spine Program at Mount Sinai Morningside include, from left, Kiran Ballani, Rachel Newman, PA-C, Patrick Reid, MD, Lauren Mcnoble, PA-C, Divaldo Camara, MD, and Priscilla Garcia

If you are having problems with your back and believe you may need to consult with a surgeon, then Mount Sinai has a program for you.

Mount Sinai Morningside has launched a Spine Program with a uniquely personalized and integrated approach. In addition to its advanced and compassionate clinical providers, the Spine Program is one of the few in New York City to have a care coordinator who focuses on helping patients find the right specialist for their needs.

Priscilla Garcia, a clinical navigator for the Spine Program, is one of the many people who make it work. She helps patients get what they need as soon as possible, prioritizing non-surgical treatments when possible.

“My role is to triage patients,” she says. “Some patients think they need a neurosurgeon right off the bat, but if they’re in pain, I schedule them with one of our pain management specialists first.”

If patients need multiple appointments, she often will try to schedule appointments in the same day for the patient’s convenience. A pain management specialist may order an MRI and notice something that a neurosurgeon should evaluate, so she will try to make that happen on the same day—a more efficient and convenient option for patients.

“It’s great for the patient because they don’t have to go home and come back again in a short timeframe. And the patients feel that we are addressing all their needs in a holistic way” she says.

Patrick Reid, MD, left, and Divaldo Camara, MD. “What sets us apart is how we try to make it easier for patients,” says Dr. Reid. “Some try to do it with computer systems or software, but we are devoting human resources to it.” To make an appointment, call 212-523-8500.

Patrick C. Reid, MD, Director of the Spine Program and Chief of Neurosurgery at Mount Sinai Morningside, makes every effort to help patients get care quickly and easily.

“When people go to the doctor, it can be confusing, especially with something as complex as the spine and surgery. Many times, people are forced to navigate the system themselves and hope for the best,” he says. “But an easy way to improve care is to get the patient in the right room with the right specialist, and that’s what we do in our program.”

Patients with spine issues are often older, and reducing the number of trips to the doctor’s office is beneficial.

“Any patient who sees us needs to have things simplified as much as possible,” says Dr. Reid. “People who have jobs, childcare needs—they all need help coordinating their health care. You don’t want to miss two days of work. That’s the benefit of having a navigator who’s had a lot of experience coordinating these things—it’s invaluable.”

The program at Mount Sinai Morningside has all the advantages of a major academic medical system, including access to the latest equipment and to the most advanced treatment techniques.

“But what sets us apart is how we try to make it easier for patients,” says Dr. Reid. “Some try to do it with computer systems or software, but we are devoting human resources to it.”

Only a small percentage of patients at the Spine Center actually receive surgery.

“There are a full range of treatments we can try before suggesting surgery,” says Dr. Reid. “But if our colleagues are running out of options trying to make a patient feel better, then we start having the discussion about surgery—the risks and benefits and likely outcomes.”

In addition, patients with back or neck pain often have health issues that contribute to their condition, and one of the advantages at Mount Sinai Morningside is ready access to specialists in many other areas throughout the Mount Sinai Health System.

“We see many patients with conditions such as diabetes, hypertension, or heart disease, and we will help them get the any additional treatments as quickly as we can,” Dr. Reid says.

Learn more about the Spine Program at Mount Sinai Morningside
To make an appointment, call 212-523-8500

Rehabilitation Therapist Rises to the Occasion and Delivers a Baby Outside The Mount Sinai Hospital

Updated on Mar 7, 2024 | Featured, Stories of Excellence

Aura Weltman, a senior clinical specialist in the Department of Rehabilitation and Human Performance at The Mount Sinai Hospital

On Thursday, December 28, shortly before 8:30 am, Aura Weltman, OTR/L, SCLV, was walking on Fifth Avenue toward The Mount Sinai Hospital and heard a woman scream. Aura, a senior clinical specialist in the Department of Rehabilitation and Human Performance at the hospital, looked around and noticed that the street seemed unusually deserted. The only people she could see were a couple walking about half a block ahead of her.

She was unsure who was in distress, but a second scream was clearly coming from the woman, who seemed to be losing her balance as she walked up the ramp to the hospital. Aura ran to her as she started to fall, caught her, and helped her to the ground.

The woman said “baby,” and Aura instinctively dropped to the ground to assist.

“I noticed someone standing close to the hospital entrance, and I called for him get help. I could tell that there was no time to wait,” she says, adding that the delivery took only a few minutes. “It was miraculous to have a perfect, beautiful baby boy crying in my arms. The mom was so brave and strong—her only concern was that the baby be wrapped and warm.”

Although Aura had never delivered a baby before, she had trained as an emergency medical technician through a summer program at UCLA after graduating from high school. She explains, “When I was 16, I was a passenger in a near-death car accident. As a result of this, I wanted to know what to do to help others in case of an emergency.”

Aura remained with the baby and his mom, reassuring her and caring for the baby until a team from the hospital arrived. “One of the security guards came out and took off his coat to wrap the baby. He also removed and unlocked my phone so I could advise my manager that I had a ‘minor emergency’ and would be a little late!”

She continues: “Once the teams arrived, they cut the umbilical cord. One team took the baby, and I began to help the mom to a stretcher. After entering the hospital and checking that both were okay (and checking on dad, who clearly did not expect this), I wished them well. By the time I turned around, the baby and mother were being wheeled away, and the team of medical professionals dissipated.”

Debra Zeitlin, who is Aura’s manager in the Department of Rehabilitation and Human Performance, was not surprised to learn about her efforts to help someone in need. “Aura’s actions and calm demeanor are no surprise to me or her colleagues,” she says. “Aura is an excellent, dedicated clinician who goes above and beyond for her patients on a daily basis.”

Aura was also recognized for her courage and compassion in the Mount Sinai Health System’s daily leadership huddle.

When asked about her courageous actions, Aura speaks about the influence of others. “I am so grateful to my parents and my community—they have always placed an emphasis on seeking knowledge and helping others. I am grateful for learning so much about compassionate care and excellence from many of my Mount Sinai colleagues,” she says. “The members of the Department of Rehabilitation and Human Performance, including doctors, nurses, therapists, and staff are hard-working, devoted, and creative; they honestly would have done the same. Our department is constantly involved in rebirth—working to aid those recovering from brain injuries, spinal cord injuries, and a host of other challenges—it may be a bit less dramatic but it is every bit as miraculous.”

Aura believes she was not alone during this experience. “I genuinely felt that I was being guided from above—all the training that I had received years ago flooded back. I feel lucky to have been placed there at the right time and fortunate to have been a part of such a miracle.”

Read more Stories of Excellence.

What You Need to Know About COVID-19 and Other Respiratory Viruses Right Now

Updated on Mar 9, 2024 | Featured, Your Health

 

It’s that time of the year when everyone seems to know someone who is under the weather. Respiratory illnesses, not just COVID-19, have been on the rise.

Experts say your best defense remains the same: Keep up to date with your vaccinations, consider taking steps to limit your exposure to large indoor crowds and wearing a well-fitting mask at public gatherings, and talk with your health care provider if you are feeling sick.

New Guidelines Shorten the Time You Should Isolate if You Are Infected

If you have COVID-19, or another respiratory infection, health experts say you can return to work or school sooner. New recommendations from the U.S. Centers for Disease Control and Prevention (CDC) suggest returning to normal activities when, for at least 24 hours, symptoms are improving, and if a fever was present, it has been gone without the use of fever-reducing medication. (Previous guidance from the CDC recommended people who were infected with COVID-19 remain in isolation for five days.)

Now the CDC says that once people resume normal activities, they are encouraged to take additional prevention strategies for the next five days to curb disease spread, such as taking more steps for cleaner air, enhancing hygiene practices, wearing a well-fitting mask, keeping a distance from others, and/or getting tested for respiratory viruses. Enhanced precautions are especially important to protect those most at risk for severe illness, including those over 65 and people with weakened immune systems, according to the CDC. Click here to read more from the CDC.

Note: The updated CDC guidelines do not apply to health care facilities. Click here for the latest Mount Sinai visitor policy.

“It’s the season for respiratory viruses,” says Bernard Camins, MD, MSC, Professor of Medicine (Infectious Diseases) at the Icahn School of Medicine at Mount Sinai and the Medical Director for Infection Prevention for the Mount Sinai Health System. “It’s no longer all about COVID-19. That is now just one of a number of respiratory viruses we need to contend with.”

In addition to COVID-19, health authorities are watching a number of respiratory viruses that are circulating: influenza or seasonal flu (there are actually two forms of it this year); respiratory syncytial virus (RSV); and the common cold (rhinovirus). Taken together, they can make for a difficult season for patients and health care providers alike.

A Spike in Influenza, COVID-19, and Other Respiratory Illnesses Can Lead to a Rise in Cardiovascular Complications

Mount Sinai cardiologists are warning about the risk of heart problems this winter. Click here to read more

For COVID-19, the New York City Department of Health and Mental Hygiene reports hospitalizations in New York had surged at the end of December to their highest levels in about a year, following a smaller upturn in September. But the numbers were about half of what they were during a surge a year ago, and they are about one-tenth of the number in January of 2022 during the last big surge.

Bernard Camins, MD, MSC

Vaccinations for COVID-19 and the flu may not completely prevent you from becoming infected, but they are likely to keep you from getting seriously ill and requiring hospitalization. For both of these illnesses, it’s not too late to get vaccinated if you have not already done so. The flu season typically extends until spring.

RSV commonly causes mild, cold-like symptoms in most healthy adults and goes away after a few days. However, for infants and older adults with pre-existing conditions like heart disease or lung disease, RSV can cause severe disease and even death. The CDC recommends the RSV vaccine for adults 60 and older.  The vaccine is also recommended for expectant mothers towards the end of their pregnancies so their newborns will have antibodies against RSV. The last preventive measure is a monoclonal antibody against RSV administered to newborns less than 8 months old.

Dr. Camins’ general recommendations for keeping healthy remain unchanged:

  • Those at risk for complications from respiratory infections may want to wear a more protective mask in crowded areas, such as riding the bus or subway or shopping. A surgical mask provides some protection but not as much as a high-quality N95 or KN95 mask.
  • Wash your hands frequently especially when you get home or arrive at work.
  • Individuals at high-risk should talk with their health care provider and have a plan for how to get antiviral medications if they become infected with COVID-19 or the flu, as these prescription medications must be taken within the first days of symptom onset. Those at high-risk include older adults, those with chronic medical conditions, such as diabetes, and those with reduced ability to fight infections, such as those being treated for some cancers.

Dr. Camins offers these additional key takeaways:

Staying home: If you are feeling very sick, you should stay home, especially if you have a fever. You may go to work when you’re feeling better, and you may want to wear a mask until your symptoms fully resolve to prevent infecting your co-workers. There’s no need for extended isolation at home as people were doing in the midst of the COVID-19 pandemic, he says.

Taking medications: Talk with your provider about medications if you become infected. Anti-viral mediations make good sense. Paxlovid™ (nirmatrelvir/ritonavir) for COVID-19 can help adults who may be at high risk for more severe illness. Anti-viral medications such as Tamiflu® (oseltamivir) for  seasonal flu can lessen symptoms and shorten the time you are sick, and they can be helpful for those at risk of complications.

The new variant: The latest variant of the virus that causes COVID-19, JN.1, does not seem to be any more worrisome than others that came before it, and existing treatments work well against it. “We will probably continue to see more variants as the virus that causes COVID-19 mutates,” says Dr. Camins. “You just have to accept there is always going to be a new variant.”

Find a Mount Sinai Doctor
Researchers Find That Antibody Responses Induced by COVID-19 Vaccines Are Long-Lasting

First Gene Therapies Approved for Sickle Cell Disease: What Do They Spell for Patients?

Updated on Mar 1, 2024 | Featured, Research, Your Health

In December 2023, the U.S. Food and Drug Administration announced its approval of two gene therapies for sickle cell disease—the first of their kind for the condition.

Casgevy™ (exagamglogene autotemcel), a cell-based gene therapy developed by CRISPR Therapeutics using its CRISPR/Cas9 genome editing technology, was approved for use in patients 12 years and older with recurrent vaso-occlusive crises (VOCs). Lyfgenia™ (lovotibeglogene autotemcel), also a cell-based gene therapy by bluebird bio, was similarly approved for treating patients 12 and up with a history of VOCs; it uses a lentiviral vector for genetic modifications.

“This is absolutely a development that physicians treating sickle cell disease are excited about,” says Jeffrey Glassberg, MD, Professor of Emergency Medicine, and Medicine (Hematology and Medical Oncology), at the Icahn School of Medicine at Mount Sinai, and Director of the Mount Sinai Center for Sickle Cell Disease.

For a long time, sickle cell disease could only be cured with a bone marrow transplant, but that procedure involves challenges, starting with finding a match and also including the potential for complications, Dr. Glassberg says. “With these gene therapies, we’re taking stem cells from your own blood and taking it to a manufacturing facility to edit the DNA. When we give the stem cells back, you begin making new blood that’s yours without sickle cell disease,” he says. “This resolves a lot of the limitations of a bone marrow transplant.”

How do Casgevy and Lyfgenia work in curing sickle cell disease, and how do they differ from bone marrow transplants? Dr. Glassberg explains in this Q&A.

What goes on in a bone marrow transplant?

So with bone marrow transplant, you need a match. You need somebody to donate the bone marrow. While it’s unlike an organ transplant—where you’re waiting for an organ to become available either through a donation or after someone dies—there is a registry where people are willing to donate. However, finding a 100 percent match is tricky. If you’re lucky, you might have a sibling where their marrow matches perfectly. If not, it’s a rigorous search through this registry.

We can do bone marrow transplants with only half-matches, but those don’t work as well. And even for well-matched transplants, there remains the risk of developing a complication called graft-versus-host disease (GvHD). That is a condition where the donor immune cells recognize the host as foreign and attack the recipient’s body cells. GvHD can be pretty common—occurring in about 50 percent of cases—but only a small percentage turn into catastrophic GvHD.

Jeffrey Glassberg, MD, Director of the Mount Sinai Center for Sickle Cell Disease

What is sickle cell disease?

Sickle cell disease is a group of inherited blood disorders, where a mutation in hemoglobin—a protein in red blood cells that delivers oxygen to tissues—causes the red blood cells to develop a sickle shape. These sickled cells can restrict blood flow in blood vessels and deliver oxygen inefficiently, which can cause pain or organ damage—also known as vaso-occlusive crises. This condition affects approximately 100,000 people in the United States and is most common in Black people. Even with good management, the life expectancy of a person with sickle cell disease is around 50 years

How do the gene therapies avoid these issues?

With the gene therapies, the patient is essentially still going through a bone marrow transplant. The individual still receives a large amount of toxic chemotherapy to kill off existing stem cells, and receives new cells. However, the difference is that it is your own stem cells taken out and fixed. You are donating marrow to yourself, so it will always be a 100 percent match when reintroduced to your body and would not attack the host.

What are the technology differences behind the two gene therapies?

Casgevy uses CRISPR/Cas9, which is basically a protein discovered from bacteria that can cut tiny pieces out of your DNA. The therapy uses CRISPR to turn down a gene called BCL11A, which suppresses the production of fetal hemoglobin after babies are born and activates beta hemoglobin, which is affected by the sickle-cell mutation. By turning down that gene, the patient stops making adult hemoglobin and switches to making fetal hemoglobin.

Lyfgenia uses a lentivirus to create a so-called transgene. The lentivirus drops in a whole gene which contains instructions for producing functional hemoglobin. This approach produces a type of hemoglobin called HbAT87Q, which works even better than regular adult hemoglobin and can be identified with a lab test. The differentiation is helpful in telling exactly how well the gene therapy is working by the amount of HbAT87Q.

In a way, for both fetal hemoglobin and HbAT87Q, they work slightly better than regular hemoglobin for adults with sickle cell disease. Both have similar or slightly better oxygen-binding affinity, and each possesses “anti-sickling” globins that limit or inhibit hemoglobin S levels, which are tied to the sickling of red blood cells.

Are these gene therapies available at Mount Sinai?

Yes, we’ll be doing the therapies starting in late February. We’ve got four patients approved already, and have a list of dozens of people who are being evaluated. You can make an appointment at the Mount Sinai Sickle Cell Disease Center.

To call Mount Sinai Sickle Cell Disease Center
212-241-3650

What goes into the process of receiving these therapies?

It’s a long road. It starts with a visit at a sickle cell disease center. If the physicians have not identified any big reasons why you should not be a candidate, you’ll be referred to a gene therapy team—these doctors also work with bone marrow transplants. They will ensure any medical issues before and after the therapy are accounted for.

Administrative and finance teams will work with you to ensure these therapies are covered. These are expensive products—about $2 million or so—and each gene therapy is an individual negotiation and contract between the insurance company and drug company.

If everything is approved, you’ll make an appointment to come into the hospital for a procedure called apheresis. It’s almost like dialysis, where you’re hooked up to a machine. Your blood is pulled into the machine where stem cells are extracted over a period of about six hours. The stem cells are sent off to a manufacturing facility where the drug company does the gene therapy. This could take up to six months.

When the product is ready, you’ll check into the hospital again. You’ll be given chemotherapy to kill off all the stem cells in your body that make blood. Once all the stem cells are gone, a bag containing the gene therapy gets transfused into you, and the modified cells find their way back into the bones and start making blood that doesn’t have sickle cell disease.

Similar to a bone marrow transplant, you’ll be in the hospital for four to six weeks, because you have no immune system following the transfusion, and the product takes about a month to get into your body. This would be the biggest danger period of the whole process. But after that, you leave the hospital pretty much cured of sickle cell disease, though you might have to come back for several checkups.

What are some risks associated with the gene therapies?

Like in bone marrow transplant, the involvement of chemotherapy does carry a small risk of death. And there is a small risk of secondary cancers from the chemotherapy. It is very likely a person opting for this therapy might not be able to have children afterward unless you preserve your eggs or sperm. After the therapy, you would have to be careful for a while because your immune system is still reconstituting itself, and a simple case of influenza can make you much sicker than it normally would.

Who might be ideal for this sort of therapy?

The sickest of patients would be too frail to undergo chemotherapy, and a patient with mild disease wouldn’t find the risk-benefit attractive. It would essentially be someone with severe disease who isn’t responding well to current available drugs, but is strong enough to undertake the risk of chemotherapy to not have sickle cell disease anymore.

In adult medicine, we have moved away from paternalism, so our approach is: if you have sickle cell disease, and you understand the procedure, risks, and alternatives, and you still want to opt for the gene therapy, we will support you and do our best to help you succeed. It’s a shared decision-making process with the patient to make sure they understand what they’re getting themselves into.

In children for whom this therapy is appropriate, it’s a different approach. It’s more a medicine-based approach, where you only reach for the extreme care when you’ve exhausted all other options and you can say with relative certainty that the child would otherwise be certain to experience bad outcomes. An example would be if a child had had a stroke after maximal treatment and continued to have another stroke, then a transplant or gene therapy could be considered.

There might be many who would not opt for this, given that there are many good treatments that could help manage the condition, as well as more drugs in development. But these gene therapies open up options for a tremendous number of people. They are a cure for sickle cell disease as much as a bone marrow transplant is considered a cure. We know from bone marrow transplant patients who have lived decades after the procedure that the benefit continues to be a durable effect for the rest of their life. While we can’t predict how patients will fare decades down the road, since the first patients for these gene therapies got them in 2014, we are hopeful they will see similar durable benefit as well.

Learn more about the Mount Sinai Center for Sickle Cell Disease

Pin It on Pinterest