First Children in United Kingdom Born After Receiving Mitochondrial Replacement Therapy that NYSCF Helped Pioneer


News reports out of the United Kingdom detail the births of the first children who have undergone mitochondrial replacement therapy (MRT) – a technique that NYSCF scientists helped to pioneer, in which mutated mitochondrial DNA (genetic material inherited maternally) is replaced with that of a healthy donor during the in vitro fertilization process. The aim of this technique is to prevent the inheritance of incurable mitochondrial diseases from mother to child. 

How it Works

We have 2 types of DNA in our cells: DNA inherited from both our parents located in cell nuclei, and DNA inherited only from the mother found in mitochondria. This can be problematic if a mother carries a disease passed down through mitochondrial DNA, as her child will always inherit it. Mitochondrial diseases, which are often caused by mutations in mitochondrial DNA, are often severe, debilitating, or deadly. Every 30 minutes a child is born who will develop a mitochondrial disease by age 10, affecting thousands in the United States alone.

In MRT, the disease-causing maternal mitochondria are replaced with healthy mitochondria from an unaffected individual prior to in vitro fertilization, protecting a child from inheriting disease.

In 2011, NYSCF scientists Dieter Egli, PhD, and Daniel Paull, PhD, began working on MRT, publishing a seminal Nature paper in 2012 demonstrating that the process could be successfully carried out in human oocytes (immature egg cells). This constituted critical groundwork that demonstrated the technique’s potential in patients, and could only be done by NYSCF due to restrictions on embryonic research using federal funding in the United States.

The Path to the Clinic

We are encouraged to see this therapy moving forward in the United Kingdom; however, MRT currently cannot be used or approved in the United States due to longstanding restrictions on clinical research that modifies human embryos. In the United Kingdom, extensive public outreach and engagement efforts along with rigorous scientific review  – where Drs. Egli and Paull and their research were heavily consulted  –  led to significant public support for MRT, allowing this lifesaving therapy to enter the clinic.

“This is an exciting demonstration of the power of scientific innovation, coupled with effective public engagement, to advance urgently needed therapies,” noted Dr. Paull. “We look forward to hearing more about this work in the United Kingdom, and hope to one day see it save lives in the United States as well.”

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Development, Genomics & Gene Editing

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