Study in Nature demonstrates method for repairing genes in human embryos that prevents inherited diseases

OHSU leads team to prevent cardiomyopathy through gene correction

By Erik Robinson August 02, 2017 Portland, Ore.

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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)

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)

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: 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)

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)

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 video footage from the Mitalipov Lab

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

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

Interview footage of Shoukhrat Mitalipov, Ph.D. (OHSU)

Daniel Dorsa, Ph.D.

Daniel Dorsa, Ph.D., senior vice president for research at OHSU. (OHSU)

Paula Amato, M.D. (OHSU)

Sanjiv Kaul, M.D.

Sanjiv Kaul, M.D., OHSU Knight Cardiovascular Institute chief executive officer; OHSU School of Medicine Division of Cardiovascular Medicine head. (OHSU)

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

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

Nuria Marti-Gutierrez, Ph.D. (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)

Germline editing: Definition of key terms

Germline editing: Illustration

Eliminating mosaicism in gene editing. (OHSU)

Germline editing: Illustration

Germline 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)

VIDEO: Download footage from press conference

Press conference with Shoukhrat Mitalipov, Ph.D., and Sanjiv Kaul, M.D., at OHSU, August 2, 2017. (OHSU)