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Action taken against mitochondrial treatment barriers

Funders and regulatory bodies are simultaneously tackling the remaining legal and safety barriers to providing a treatment that could prevent mothers passing mitochondrial diseases to their offspring.

The Wellcome Trust announced on 19 January that it plans to invest £4.4 million in establishing the Wellcome Trust Centre for Mitochondrial Research at Newcastle University, alongside £1.4m from the university itself.

The centre plans to answer the remaining research questions identified by a review by the Human Fertilisation and Embryology Authority in April last year, in order to provide enough evidence that the technique is safe.

The treatment would be illegal under current law. The government has also launched a consultation to inform the public about mitochondrial disease and seek views about the potential use of such techniques to inform potential change in the law.

The technique being developed in Newcastle involves implanting a mother’s genetic material, or a fertilised egg nucleus, into a donated egg with healthy mitochondria that has had its nucleus removed.

Mitochondria are passed down via the mothers’ side and provide the energy for cells. Diseases caused by defective mitochondrial DNA include muscular dystrophy and MELAS syndrome and affect around 1 person in 5,000 in the UK.

The government consultation, to be carried out by the HFEA, will last about a year before being presented to the Department of Health and the Department for Business, Innovation and Skills.

It will then be up to health secretary Andrew Lansley to determine whether to draft regulations for consideration by Parliament on allowing treatment to proceed. Such techniques were foreseen in the Human Fertilisation and Embryology Act 1990 but would require parliamentary debate before changes to regulation could become legal.

The Nuffield Council on Bioethics is already investigating the ethics of such mitochondrial transfer, in a working group chaired by science journalist Geoff Watts. The council has launched a call for evidence, asking questions about whether it is acceptable to modify an embryo before it is implanted in the womb. It will report this summer.

Speaking at a media briefing on 19 January, the director of the Wellcome Trust, Mark Walport, stressed that ethical questions surrounding the technique should focus on the wellbeing of the potential offspring, rather than on the fact that a very small amount of a child’s DNA will come from a third source.

“It’s like defining a camera from the type of batteries it has in it,” Walport told the briefing. “We’re talking about a tiny amount of genetic material.”

Mitochondrial DNA accounts for less than 0.001 per cent of a person’s DNA, which codes only for the proteins needed to generate energy in mitochondria.

Mary Herbert, a researcher at Newcastle within the field, told journalists that one of two possible techniques has already been used in primates, with offspring now around two years old having experienced no health problems.

The Newcastle team have so far been working on abnormally-fertilised embryos, but with the Wellcome Trust funding will work on using the technique in normal human embryos, she added.

The team will study whether the embryos develop normally into the blastocyst stage, when an embryo would normally implant into the walls of the womb.

Doug Turnbull, who will lead the Newcastle centre, added that, depending on the availability of donor eggs for research and the changes of regulation, the first patients could even begin treatment within two to three years.

Turnbull estimated that the number of patients to be treated would be between 10 and 100 per year, with Herbert adding that patients might bring their own donor with them, such as a sister-in-law or friend.

“A lot of people have very strong feelings about IVF and pre-genetic diagnosis and just feel it’s wrong,” added Walport. “They will feel this is wrong, too. We live in a pluralist societies and a democracy and that’s what this consultation is about.”