‘Three-parent IVF’ could combat genetic disease

In addition to £4.4m funding from the Wellcome Trust to set up a new research centre at Newcastle University, the government has announced that it will carry out a consultation on the research, which would ultimately need a change in the law to proceed to the clinic.

The work aims to prevent genetic diseases caused by defective mitochondria – the “batteries” that power the cells in our bodies. When these fail, patients can develop devastating diseases, with symptoms often affecting tissues such as the heart, muscles and brain. At least one in 5,000 adults is affected by diseases caused in this way.

Now scientists at Newcastle University believe they have found a way to prevent these mitochondrial diseases, which are passed on by the mother to the child. The technique involves replacing the defective mitochondria in a human egg, either before or after it has been fertilised, with healthy mitochondria.

This is something that blights generations of families, and if we can stop that happening it would be incredible. Nicola Bardett, who has a form of mitochondrial disease

The first technique, known as “pronuclear transfer”, involves taking two fertilised eggs, one from the affected woman, the second from a donor. The researchers remove the nuclear DNA – the part of a cell which contains our genetic make-up – from the donor egg, leaving behind the healthy mitochondria, and replace it with the nucleus from the mother’s egg. This new egg is then implanted in the affected woman’s womb using IVF. The second technique, known as “metaphase spindle transfer”, involves using non-fertilised eggs at the outset but then fertilising them once the mother’s DNA has been transplanted into a healthy donor cell.

This has lead to the method being branded as “three-parent IVF”, raising fears of cloning and other ethical questions.

Patient tests

The technique works in the laboratory, but the Human Fertilisation and Embryology Authority (HFEA) has requested further experiments to assess the technique’s safety before it can be safely and accepted used in clinics for patients.

The government has also asked the HFEA to carry out a consultation to inform the public about mitochondrial disease and to seek its opinion about the use of these methods to avoid such diseases.

Professor Doug Turnbull and Professor Mary Herbert, from Newcastle University, are leading the research and will continue at the new centre at Newcastle University, funded by the Wellcome Trust and £1.4m from the university itself.

Professor Turnbull said: “Every year, we see hundreds of patients whose lives are seriously affected by mitochondrial diseases… This new funding will enable us to take forward essential experiments which we hope will demonstrate to the HFEA and to the public that these techniques, which are based on existing IVF techniques, are safe and effective.”

‘Serious ethical problems’

While scientists believe that the research could help many thousands of people, there are some people who have concerns over what the process involves.

Helen Watt is senior research director at the Anscombe Centre for Bioethics in Oxford, a Roman Catholic academic institute. She told Channel 4 News that both the techniques being assessed by the HFEA involve “very serious ethical problems”.

Regarding pronuclear transfer, she said: “This grossly disrespects human life, and any child born from this particular technique will sadly discover she has no genetic parents – not three parents, as is sometimes reported. Instead, she is formed from the bodies of two embryos created and killed precisely as ‘building blocks’ for hers.

“We are very far here from the unconditional welcome of new life which having a baby should involve.”

She added: “Even with the second, less destructive method, maternal spindle transfer, where nuclear material is exchanged before fertilisation, the child will face the unknown physical risks of the procedure in addition to the identity problems of knowing she that has, in this case, three genetic parents. For couples who, understandably, do not want to take the risk of passing on mitochondrial disorders to their children, adoption is a far better solution.”

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‘Incredible’
Nicola Bardett, 33, from Northumberland has a form of mitochondrial disease called Melas syndrome. Many people in her family also have the condition, including her mother, who died at 52. Nicola will also pass the condition on to her children. She has a three-year-old son.

“My mum started to show symptoms on and off from around the age of 19, then she just steadily got worse and worse. She started to go deaf when she was 35. By the time she died she was like an old woman and had started to develop dementia in the year before she died,” she said.

“Although I don’t have any symptoms yet myself, this still has a massive impact on my life and on the lives of everyone in our family. It is like a ticking time-bomb that could strike at any time… When I had my son, we didn’t realise the full implications of carrying this defect.

“If this work is allowed to go ahead it could wipe out this problem from future generations. This is something that blights generation after generation of families and if we can stop that happening it would be incredible.”