Stories about: gene editing

2017 pediatric biomedical advances at Boston Children’s Hospital: Our top 10 picks

New tools and technologies fueled biomedicine to great heights in 2017. Here are just a few of our top picks. All are great examples of research informing better care for children (and adults).

1. Gene therapy arrives

(Katherine C. Cohen)

In 2017, gene therapy solidly shed the stigma of Jesse Gelsinger’s 1999 death with the development of safer protocols and delivery vectors. Though each disease must navigate its own technical and regulatory path to gene therapy, the number of clinical trials is mounting worldwide, with seven gene therapy trials now recruiting at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. In August, the first gene therapy won FDA approval: CAR T-cell therapy for pediatric acute lymphoblastic leukemia.

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Patients’ individual genomes may affect efficacy, safety of gene editing

gene editing - truck delivering code
Subtle genetic variants in or near the gene editing target site could cause reagents to miss an address or arrive at the wrong one, researchers say.

Gene editing has begun to be tested in clinical trials, using CRISPR-Cas9, zinc finger nucleases (ZFN) and other technologies to directly edit DNA inside people’s cells. Multiple trials are in the recruiting or planning stages. But a study in PNAS this week raises a note of caution, finding that person-to-person genetic differences may undercut the efficacy of the gene editing process or, in more rare cases, cause a potentially dangerous “off target” effect.

The study adds to evidence that gene editing may need to be adapted to each patient’s genome, to ensure there aren’t variants in DNA sequence in or near the target gene that would throw off the technology.

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A “CRISPR” view of Sturge-Weber syndrome is coming into focus

Colorized laboratory image showing tissue model containing the Sturge-Weber syndrome genetic mutation
Living blood vessels inside a microfluidic chip containing the genetic mutation (green) responsible for Sturge-Weber syndrome (Credit: Bischoff lab)

Three-dimensional modeling and CRISPR-Cas9 gene editing technology are giving scientists a new view into Sturge-Weber syndrome, a rare congenital disorder that causes small blood vessels, called capillaries, to be malformed. These capillary malformations can cause port wine birthmarks on the face and neck, and in some cases, abnormal vasculature in the brain that can spark seizures.

Last year, a Boston Children’s Hospital research team — led by Joyce Bischoff, PhD, of the Vascular Biology Programdiscovered that the genetic mutation responsible for Sturge-Weber syndrome dwells in endothelial cells lining the affected capillaries in the brain. The team had previously found the same mutation present in the endothelial cells of skin capillaries of patients’ port wine birthmarks.

Together, their studies suggest that mutated endothelial cells could be causing surrounding cells to behave abnormally.

To explore this emerging hypothesis, Bischoff’s team is seeking lifelike ways of mimicking these hallmark capillary malformations in the laboratory.

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