Study verifies gene repair breakthrough

Research published in Nature confirms discovery of DNA repair mechanism

By Erik Robinson August 08, 2018 Portland, Oregon

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Shoukhrat Mitalipov, Ph.D., principal investigator for the Center for Embryonic Cell and Gene Therapy (center) with Hong Ma, M.D., Ph.D. (left) and Nuria Marti-Gutierrez, Ph.D., (right) both corresponding authors on a new study outlining a germline repair process. (OHSU/Kristyna Wentz-Graff)

Germline editing: Illustration

Germline editing. (OHSU)

Germline editing: Illustration

Eliminating mosaicism in gene editing. (OHSU)

Germline editing

This sequence of images shows the development of embryos after co-injection of a gene-correcting enzyme and sperm from a donor with a genetic mutation known to cause hypertrophic cardiomyopathy. A new study, published today in the journal Nature, demonstrates an effective method of repairing a disease-causing mutation from the moment of fertilization, preventing it from being passed to future generations. (OHSU)

Germline editing: PN 1

This image clearly shows the first sign of successful in vitro fertilization, after co-injection of a gene-correcting enzyme and sperm from a donor with a genetic mutation known to cause hypertrophic cardiomyopathy. (OHSU)

Germline editing: D2-1

This image shows individual blastomeres within the early embryos two days after co-injection. As a result of initiating the repair process at the time of fertilization, a new study revealed that each new cell in the developing embryos was uniformly free of the disease-causing mutation. (OHSU)

Germline: Blastocyst 3

This image shows embryos after co-injection developing into blastocysts, which could someday be used in fertility clinics to help people trying to have children free of genetic disease. (OHSU)

Shoukhrat Mitalipov, Ph.D.

Shoukhrat Mitalipov, Ph.D., principal investigator for the Center for Embryonic Cell and Gene Therapy, June 6, 2017. (OHSU/Kristyna Wentz-Graff)

Shoukhrat Mitalipov, Ph.D.

Shoukhrat Mitalipov, Ph.D., (left) talks with research assistant Hayley Darby in the Mitalipov Lab at OHSU, July 31, 2017. (OHSU/Kristyna Wentz-Graff)

Shoukhrat Mitalipov, Ph.D.

Shoukhrat Mitalipov, Ph.D., principal investigator for the Center for Embryonic Cell and Gene Therapy, June 6, 2017. (OHSU/Kristyna Wentz-Graff)

Juan Carlos Izpisua Belmonte

Juan Carlos Izpisua Belmonte, Ph.D., professor and Roger Guillemin chair in the Gene Expression Laboratory of the Salk Institute in La Jolla, California. (Courtesy of the Salk Institute)

Paula Amato, M.D. (OHSU)

Hong Ma, M.D., Ph.D.

Hong Ma, M.D., Ph.D. (OHSU/Kristyna Wentz-Graff)

VIDEO: Download video footage from the Mitalipov Lab

Footage from Shoukhrat Mitalipov's lab at OHSU. (OHSU)

VIDEO: Download germline editing video

This video shows both S-phase (post fertilization) injection of CRISPR/Cas9 and M-phase co-injection of the CRISPR/Cas9 gene-correcting enzyme and sperm from a patient with a known disease-causing genetic mutation. As a result of initiating the repair process at the time of fertilization (M phase), the new study by OHSU researchers found that mosaicism could be eliminated in the developing embryo and correct the mutation. (OHSU)

VIDEO: Download interview footage of Shoukhrat Mitalipov, Ph.D.

Interview footage of Shoukhrat Mitalipov, Ph.D., on the verification of the study. (OHSU)