Stories about: gene therapy

Catching up with Emir, gene therapy star

Emir 1Last spring, we introduced you to Emir Seyrek, who was born with Wiskott-Aldrich syndrome (WAS), an inherited disorder that causes a child to have a poorly functioning immune system and difficulty producing platelets—the blood cells that keep bleeding under control. Until he reached age 2, Emir bled easily and suffered from severe eczema and infections.

In 2013, when Emir was two years old, he and his mother traveled from Turkey to take part in a clinical trial of a new gene therapy treatment for WAS at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. At that point, he had extremely low platelet counts and had been in and out hospitals in Turkey. Within a week of arrival in Boston he suffered a fall and had a skull fracture and potentially life-threatening internal bleeding.

The gene therapy trial—run by Dr. Sung-Yun Pai—replaces the broken WAS gene in a patient’s blood cells. Physicians collected stem cells from Emir’s blood, mixed them with a vector—a virus carrying a working copy of the WAS gene—and then injected the corrected stem cells back into Emir. After his gene therapy treatment, Emir’s platelet levels began to rise. He was sent back to Turkey after seven months in Boston, with high hopes that his platelet level would continue to improve.

Emir is now back at Dana-Farber/Boston Children’s for his annual checkup.

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Boston Children’s brings CLARITY to families living with complex diseases

Genome sequencing may help parents of children with rare disease

The future of medicine is closer than you think. Today, scientists are able to learn more than ever about how our genes are likely to affect our health—and the diseases or conditions we may face later in life—thanks to a process known as genome sequencing (in-depth studying of our DNA). And because of technological advances made in recent years, the process has become less expensive, meaning it could soon be an important aspect of everyday care. (A decade ago it cost $3 million to sequence a person’s genes. Today the process runs about $1,000.)

But, as with any emerging technology, genome sequencing is experiencing a few growing pains as it becomes more commonplace.

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New hope for gene therapy

Imagine that instead of drugs or surgery, you could use genes to treat or even  prevent diseases. That’s the promise of gene therapy, an experimental technique where a gene is inserted into a patient’s cells to replace a non-functioning or disease carrying gene.

genetherapy2While gene therapy could potentially cure a variety of diseases, the development of gene therapy strategies against SCID-X1, better known as “bubble boy disease,” has been stalled since 2005, when five boys in Europe with SCID-X1, developed leukemia during clinical trials. Now, a new international trial, sponsored in the United States by Children’s Hospital Boston’s David Williams, MD, director of Translational Research, hopes to revive this potentially life-saving treatment.

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