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Groundbreaking Gene Therapy Cures 21-year-old Of His Sickle Cell Anemia: 'I'm Not In Pain Anymore'

Sebastien Beauzile – By Northwell Health/Cohen Medical Center

A New York hospital has declared a patient cured of sickle-cell anemia, a debilitating genetic disorder that mostly affects individuals of African heritage.

Considered to be cured, other genetic treatments have proven successful in reducing or ending the bouts of pain and occasional surgeries that plague the lives of those who suffer from the disease.

Cohen Children's Medical Center said their patient Sebastien Beauzile, 21, is the first New Yorker to have received the breakthrough Lyfgenia treatment, according to the New York Post.

Developed by Bluebird Bio., Beauzile received the treatment in December of 2024. Since then, the young man has been seemingly cured of the disease which caused him skin ulcers, back pain, hip pain, joint pain, and severe chest pain.

"Growing up with sickle cell, it's kind of been over all my life," Sebastien said, according to Gene Online. "So now that I'm cured, I'd say it's my new birthday, because now nothing's going to stop me."

Part of a genetic mutation that humans developed to protect themselves against the malaria parasite, sickle cell disease occurs when blood cells, through forming sickle shapes, have trouble reaching the heart.

Dr. Jeffrey Lipton, the center's director for pediatric hematology, predicts Lyfgenia will replace bone marrow transplants as the primary method for addressing sickle cell anemia, and called the treatment "a fix."

Lygenia takes a sample of the patient's bone marrow and introduces healthy adult hemoglobin from a donor. Hemoglobin is a protein that helps transport oxygen through the body via red blood cells, and is at the heart of sickle cell disease. Tinkering the two, they are then infused back into the patient's body, where the donor hemoglobin is gradually coded for rather than the affected hemoglobin of the patient.

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"Sebastien's recovery has been amazing, and we hope he is just the first of many patients we treat with Lyfgenia," said Charles Schleien, MD, senior vice president of Cohen Children's Medical Center.

In January, GNN reported that base editing, another form of gene therapy that, like Lygenia, doesn't involve the more famous CRISPR technology, was able to seemingly cure 20-year-old Brandon Baptiste, who is now "going to the gym every day, doing cardio and weight lifting."

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Baptiste became eligible for an experimental trial of base editing called BEACON. By October 2023, after a year of tests to ensure he was physically capable in his diminished state to handle the procedure, it began with a sample of his blood stem cells.

These were then transferred to a separate facility where the base editing would take place. Using chemotherapy, his team then killed off all the diseased blood stem cells in his bone marrow, after which he was ready to receive his own stem cells back in November.

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Sickle Cell Anemia

Sickle-cell disease (SCD), or sickle-cell anaemia (or anemia, SCA) or drepanocytosis, is an autosomal recessive genetic blood disorder with overdominance, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various complications. The sickling occurs because of a mutation in the hemoglobin gene. Life expectancy is shortened. In 1994, in the US, the average life expectancy of persons with this condition was estimated to be 42 years in males and 48 years in females, but today, thanks to better management of the disease, patients can live into their 50s or beyond. In the UK, the current life expectancy is estimated to be 53–60 years of age.

Sickle-cell disease, usually presenting in childhood, occurs more commonly in people (or their descendants) from parts of tropical and sub-tropical regions where malaria is or was common. One-third of all indigenous inhabitants of Sub-Saharan Africa carry the gene, because in areas where malaria is common, there is a fitness benefit in carrying only a single sickle-cell gene (sickle cell trait). Those with only one of the two alleles of the sickle-cell disease, while not totally resistant, are more tolerant to the infection and thus show less severe symptoms when infected.

The prevalence of the disease in the United States is approximately 1 in 5,000, mostly affecting Americans of Sub-Saharan African descent, according to the National Institutes of Health. In the United States, about 1 out of 500 African-American children born will have sickle-cell anaemia.

Sickle-cell anaemia is the name of a specific form of sickle-cell disease in which there is homozygosity for the mutation that causes HbS. Sickle-cell anaemia is also referred to as "HbSS", "SS disease", "haemoglobin S" or permutations thereof. In heterozygous people, who have only one sickle gene and one normal adult haemoglobin gene, it is referred to as "HbAS" or "sickle cell trait". Other, rarer forms of sickle-cell disease include sickle-haemoglobin C disease (HbSC), sickle beta-plus-thalassaemia (HbS/β+) and sickle beta-zero-thalassaemia (HbS/β0). These other forms of sickle-cell disease are compound heterozygous states in which the person has only one copy of the mutation that causes HbS and one copy of another abnormal haemoglobin allele.

The term disease is applied, because the inherited abnormality causes a pathological condition that can lead to death and severe complications. Not all inherited variants of haemoglobin are detrimental, a concept known as genetic polymorphism.

New York Man Cured Of Sickle Cell Anemia Using Innovative Stem Cell Therapy

This is huge!

Sebastien Beauzile, 21, has been cured of sickle cell anemia, according to his doctors at Cohen's Children's Medical Center. 

Beauzile received a new gene therapy called Lyfgeni, created by the biotech company Bluebird Bio. Beauzile, who suffered from chronic pain for most of his life, received the treatment in December 2024. Since then, he has not had any symptoms of sickle cell anemia, which led doctors to determine he is cured of the disease.

"We feel blessed to be the first to be able to offer this," Dr. Jonathan Fish of Cohen Children's Medical Center, told WCBS. 

Beauzile said he's grateful for his better quality of life, which allows him to travel and focus on his educational and career goals. Beauzile plans to pursue a career in the medical field.

"Sickle cell was like a blockade for me—now it's like a wall that I just jumped over," Beauzile said. 

According to his mother, Magda Lamour, Beauzile has been a patient at Cohen Children's Medical Center since he was two-months-old. Lamour expressed her gratitude to the medical staff for providing this groundbreaking treatment to her son.

Dr. Jeffrey Lipton, chief of hematology and oncology at Cohen Children's Medical Center, noted that modern medicine books have mentioned sickle cell disease since 1910. More than 100 years later, he believes a cure has been found . 

Sickle cell anemia is a severe inherited disorder that prevents hemoglobin in red blood cells from carrying oxygen to all body parts.  The condition can lead to anemia, chronic pain, blood clots, organ damage, and other complications.

According to the U.S. Centers for Disease Control and Prevention, more than 100,000 people live with the disease in the United States. Sickle cell anemia primarily affects Black and Hispanic people. Cohen Children's Medical Center aims to focus on these communities when offering this potentially life-saving treatment.

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