Treatments to avoid transmission of mitochondrial disease

Research to understand mitochondrial disease, and to investigate in vitro fertilisation treatments which may prevent its hereditary transmission, is currently underway in the UK. These methods may enable women with mitochondrial disease, and those carrying mutations, to have unaffected children.

The transmission of serious mitochondrial diseases from mothers to children cause a range of often devastating and fatal diseases, such as muscular dystrophy and early-onset blindness.

To address these diseases, researchers are developing novel techniques that would allow mothers to have genetically related children, who do not carry the risk of serious mitochondrial disease. These mitochondrial donation techniques use in vitro fertilisation procedures and involve the nuclear DNA of mothers being removed from an egg cell, or the mothers’ and father’s DNA from an early embryo, and added to a donor egg cell or embryo from another woman that has had her nuclear DNA removed. The donated egg cell or embryo therefore contains healthy mitochondrial DNA, and only the mother and father’s nuclear DNA.

This page outlines the various steps that the Academy has taken to support the evaluation of the safety and efficacy of potentially introducing these techniques in the clinic.

The Human Fertilisation and Embryology Authority (HFEA) reported on the safety and efficacy of the new techniques for avoiding the transmission of mitochondrial disease in April 2011.

Subsequently, the Academy and partner organisations wrote to Rt Hon Andrew Lansley MP, the then-Secretary of State for Health, calling for the introduction of regulations to enable the research techniques to be used in clinical treatment, if sufficient pre-clinical evidence is obtained. The letter can be veiwed here. 

In January 2012, the Department of Health asked the HFEA to lead a public discussion to ask whether the new scientific procedures, which could prevent women with mitochondrial disease from passing the illness to their children, should be introduced. The Academy's President responded to these announcements. 

The HFEA announced that it would be working with Sciencewise-ERC on a wide programme of engagement aimed at understanding the full range of views on emerging techniques designed to prevent mitochondrial disease in June 2012.

In late 2012, the HFEA launched a public consultation entitled 'Medical Frontiers: debating mitochondria replacement' to help fulfil this commitment. The Academy responded to the consultation; the response is available to download on the right of this page. The HFEA reported their findings to the Department of Health in spring 2013, and was broadly supportive of introducing the techniques into clinics with suitable regulations and assessments of safety and efficacy. 

Alongside work with HFEA, the Academy of Medical Sciences joined forces with ScienceLondon to present the Great Mitochondria Transfer Debate, a public discussion on the science and ethics of mitochondria transfer. A video of the event can be found here.

Following the outcome of the HFEA's public engagement programme on mitochondrial donation, and its agreed advice to Government, in June 2013 the Department of Health announced its plans to draft regulations to publish for a further public consultation.

The Academy welcomed the opportunity to provide input on the content of these regulations and responded to the consultation in May 2014. Our response is available for download on the right hand side of this page. 

In early February 2015, the House of Commons voted to change regulations to allow the introduction of mitochondrial transfer techniques into the clinic. The Academy produced a briefing with partner organisations in support of the draft Human Fertilisation and Embryology (Mitochondrial Donation) Regulations 2015. The Academy's President, Professor Sir John Tooke PMedSci, welcomed the result of the vote.

In late February 2015, the House of Lords also voted in favour of a change in regulations. The Academy's President, Professor Sir John Tooke PMedSci, welcomed the result of the vote.