In the United Kingdom, North East women are being asked to consider donating their eggs for
Newcastle University research in order to push forward a pioneering technique which could eliminate serious inherited disorders
The procedure involves using DNA from two women to give birth to a child who will have the physical attributes of the parents, but DNA from the third donor will be used to replace defective DNA from the mother that could cause a wide range of disorders.
Transferring nuclear DNA: Photos show procedure for removing defective DNA and implanting healthy DNA
Credit: Newcastle University
Mitochondrial diseases are passed on by the mother and the new technique, which has been developed at Newcastle University, would reduce the risk of transmission of these disorders. This would allow the mother to give birth to a healthy child and eliminate mitochondrial diseases from the family line.
Credit: Newcastle University
The research could pave the way for in vitro fertilisation (IVF) treatment to prevent the hereditary transmission of devastating mitochondrial diseases will take place at the new Wellcome Trust Centre for Mitochondrial Research at Newcastle University thanks to a £5.8 million funding boost.
The techniques involve transferring nuclear DNA, which contains our genetic make-up, between two human eggs to replace defective mitochondria - the 'batteries' that power the cells in our bodies. When these batteries fail, patients can develop devastating mitochondrial diseases with symptoms often affecting those tissues most heavily dependent on energy, such as the heart, muscles and brain.
Credit: Credit: Dr David Furness, Wellcome Images.
The announcement of the new Centre comes as the Department of Health and the Department of Business, Innovation and Skills ask the Human Fertilisation and Embryology Authority (HFEA) to carry out a consultation to inform the public about mitochondrial disease and seek its opinion about the use of techniques to avoid such diseases. The HFEA will report the outcomes of this public dialogue work to the Secretary of State for Health, who will then decide whether to draft regulations for consideration by Parliament to allow the techniques to proceed in patients.
The techniques have already been shown to work in the laboratory, but in a review of the scientific evidence, the HFEA last year requested further experiments to assess their safety before they can be safely and acceptably used in clinics for patients.
Credit: Newcastle University
The research could pave the way for in vitro fertilisation (IVF) treatment to prevent the hereditary transmission of devastating mitochondrial diseases will take place at the new Wellcome Trust Centre for Mitochondrial Research at Newcastle University thanks to a £5.8 million funding boost.
The techniques involve transferring nuclear DNA, which contains our genetic make-up, between two human eggs to replace defective mitochondria - the 'batteries' that power the cells in our bodies. When these batteries fail, patients can develop devastating mitochondrial diseases with symptoms often affecting those tissues most heavily dependent on energy, such as the heart, muscles and brain.
Three mitochondria (blue) surrounded by cytoplasm (gold).
The announcement of the new Centre comes as the Department of Health and the Department of Business, Innovation and Skills ask the Human Fertilisation and Embryology Authority (HFEA) to carry out a consultation to inform the public about mitochondrial disease and seek its opinion about the use of techniques to avoid such diseases. The HFEA will report the outcomes of this public dialogue work to the Secretary of State for Health, who will then decide whether to draft regulations for consideration by Parliament to allow the techniques to proceed in patients.
The techniques have already been shown to work in the laboratory, but in a review of the scientific evidence, the HFEA last year requested further experiments to assess their safety before they can be safely and acceptably used in clinics for patients.
In the video below, Professor Turnbull and Professor Murdoch discuss the technique used to transfer genetic material between two fertilised eggs.
Credit: Wellcome Trust
The techniques have been developed in human eggs by Professor Doug Turnbull and Professor Mary Herbert at Newcastle University. Professor Turnbull will be the Director of the Wellcome Trust Centre for Mitochondrial Research, where the follow-up work will take place.
The Wellcome Trust has awarded £4.4 million to Newcastle University to establish a world-leading centre dedicated to understanding the biology of mitochondria and their relation to health and disease. Newcastle University has contributed a further £1.4 million for the centre.
Professor Turnbull says: "Every year, we see hundreds of patients whose lives are seriously affected by mitochondrial diseases. We want to make a major difference to the lives of these patients. 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."
The Centre will bring together ground-breaking laboratory studies to understand the fundamental mechanisms and genetics of mitochondrial dysfunction, and the expertise of clinical researchers who currently care for over 400 patients with mitochondrial diseases at NHS Specialised services clinics in Newcastle and more than 1000 patients at the Newcastle Fertility Centre at Life (Newcastle upon Tyne Hospitals NHS Foundation Trust).
The university is already an internationally renowned institution for mitochondrial research, and the Fertility Centre has an international reputation in reproductive biology. This new award is expected to cement their places as world leaders.
Sir Mark Walport, Director of the Wellcome Trust, says: "Professor Turnbull and his colleagues at Newcastle are world leaders in discovering how inherited abnormalities in mitochondria, the 'batteries' of our cells, can cause devastating diseases that typically affect the brain and muscles. We hope that their work at this new Wellcome Trust Centre for Mitochondrial Research will result in major advances in our understanding of mitochondrial function and in the development of new treatments.
"Their work to stop the inheritance of defective mitochondria by transfer of DNA between human eggs is particularly promising and has the potential to prevent previously incurable diseases. We welcome the opportunity to discuss with the public why we believe this technique is essential if we are to give families affected by these diseases the chance to have healthy children, something most of us take for granted."
Professors Turnbull and Herbert, together with colleagues at the Newcastle Fertility Centre at Life, are working on two techniques that could prevent the transmission of mitochondrial diseases from mother to child. The first, 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.
Currently, the donor eggs are provided by women undergoing IVF, who donate half their eggs in return for a subsidised private treatment or, in the case of NHS patients, an additional cycle of treatment. Now, new permissions have been granted to reimburse altruistic egg donors for inconvenience and lost earnings.
Professor Alison Murdoch, Professor of Reproductive Medicine at Newcastle University and Head of Newcastle Fertility Centre at Life, says: "Many women have expressed an interest in helping because they have family or friends who have been affected by a mitochondrial disorder or because they are interested in helping the research. Until now, we have not been able to recruit non-patient donors but that has now changed.
"After receiving counselling, these women are able to donate eggs altruistically - and these donations will be vital in providing a source of eggs for the researchers to be able to take forward their work towards eliminating these currently incurable diseases."
Every cell in our body needs energy to function. This energy is provided by mitochondria, which are found in every cell apart from red blood cells. The information required to create these 'batteries' - the mitochondrial DNA - is passed down the maternal line, from mother to child. As well as causing mitochondrial diseases, mitochondrial failure has also been described in common diseases such as Parkinson's disease, suggesting that the impact of energy failure might be greater than expected and an important cause of ageing and degenerative disease.
Researchers at the Wellcome Trust Centre for Mitochondrial Research at Newcastle University (Professors Doug Turnbull, Robert Lightowlers, Patrick Chinnery, Robert Taylor, Mary Herbert and Zofia Chrzanowska-Lightowlers) aim to understand, treat and ultimately prevent mitochondrial diseases. To achieve this, they will combine clinical expertise in mitochondrial disease with ground-breaking laboratory studies.
To ensure continued research in this area, the Centre will nurture the next generation of scientists by developing a new training programme in mitochondrial medicine for outstanding young researchers.
Professor Turnbull and colleagues recognise that their work to prevent mitochondrial disease passing from mother to child involves new and potentially controversial IVF techniques. Therefore, the Centre will also focus on engagement with patients, the general public and policymakers to explain their work.
Professor Turnbull adds: "With this new funding from the Wellcome Trust and Newcastle University, we aim to develop a Centre which integrates internationally renowned basic and clinical researchers and trains the next generation of outstanding scientists. We recognise the importance of public support for our work and so will ensure that we open our research for our patients, the public and policymakers to follow and see what we are trying to achieve."

Newcastle Seeks Eggs
Despite about 100 women already coming forward to support the research, Newcastle fertility experts need more eggs to progress the work into becoming an accepted treatment.
The call follows two announcements which will have major implications for the Newcastle work; firstly, that the Wellcome Trust has given £4.4 million to Newcastle University to help develop the technique so that it is ready to be used in patients, and secondly, that the Government are to hold a public consultation into changing the law so that families could benefit from the new treatment.
But, the work could be held back if they don’t have enough eggs for the research.
Currently under the egg-sharing scheme women undergoing IVF can receive a reduction in their treatment cost if they donate half their eggs for research – using their remaining eggs for their own IVF.
As a result of the donations from women in the North East, over 500 eggs have been used for research.
Now, new permissions have been granted so that women can donate altruistically and receive reimbursement for inconvenience and loss of earnings.
Professor Alison Murdoch, Professor of Reproductive Medicine at Newcastle University and Head of Newcastle Fertility Centre at Life said: “Many women have expressed an interest in helping because they have family or friends who have been affected by a mitochondrial disorder or because they are interested in helping the research. Until now we have not been able to recruit non-patient donors but that has now changed.
“After receiving counselling these women are able to donate eggs altruistically – and these donations will be vital in providing a source of eggs for the researchers to be able to take forward their work towards eliminating these currently incurable diseases.
“We’ve had amazing support from women in the North East who have shown great thoughtfulness and compassion taking part in this process and we expect and hope that this continues.”
Donated eggs will be used to progress pioneering work in mitochondrial transplant. This is when the nucleus is removed from the donor egg and replaced with the fertilised nucleus. This new fertilised egg contains the DNA of the father and mother, and the mitochondria from the donor.
Mitochondria are the batteries of the cells. In some people there is a fault in the mitochondria which can cause diseases and around one in 200 children are born each year with mutations which in most cases cause only mild forms of mitochondrial disease. However, around one in 6,500 children are born with severe mitochondrial diseases, which include muscular weakness, blindness, fatal heart failure, liver failure, learning disability and diabetes and can lead to death in early infancy.
The Newcastle Fertility Centre at Life is part of Newcastle Hospitals NHS Foundation Trust.
Fact box:
• Women who wish to donate eggs altruistically need to be under 35
• Women need to live in the North East so that medical care can be provided
• Donors will receive £500 compensation
• Women who are having IVF treatment can continue to egg share for research and will have their treatment costs reduced by about £1,500, or to donate to another couple for a cost reduction.
Contacts and sources:
Newcastle University
Craig Brierley, Senior Media Officer
Wellcome Trust
The techniques have been developed in human eggs by Professor Doug Turnbull and Professor Mary Herbert at Newcastle University. Professor Turnbull will be the Director of the Wellcome Trust Centre for Mitochondrial Research, where the follow-up work will take place.
The Wellcome Trust has awarded £4.4 million to Newcastle University to establish a world-leading centre dedicated to understanding the biology of mitochondria and their relation to health and disease. Newcastle University has contributed a further £1.4 million for the centre.
Professor Turnbull says: "Every year, we see hundreds of patients whose lives are seriously affected by mitochondrial diseases. We want to make a major difference to the lives of these patients. 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."
The Centre will bring together ground-breaking laboratory studies to understand the fundamental mechanisms and genetics of mitochondrial dysfunction, and the expertise of clinical researchers who currently care for over 400 patients with mitochondrial diseases at NHS Specialised services clinics in Newcastle and more than 1000 patients at the Newcastle Fertility Centre at Life (Newcastle upon Tyne Hospitals NHS Foundation Trust).
The university is already an internationally renowned institution for mitochondrial research, and the Fertility Centre has an international reputation in reproductive biology. This new award is expected to cement their places as world leaders.
Sir Mark Walport, Director of the Wellcome Trust, says: "Professor Turnbull and his colleagues at Newcastle are world leaders in discovering how inherited abnormalities in mitochondria, the 'batteries' of our cells, can cause devastating diseases that typically affect the brain and muscles. We hope that their work at this new Wellcome Trust Centre for Mitochondrial Research will result in major advances in our understanding of mitochondrial function and in the development of new treatments.
"Their work to stop the inheritance of defective mitochondria by transfer of DNA between human eggs is particularly promising and has the potential to prevent previously incurable diseases. We welcome the opportunity to discuss with the public why we believe this technique is essential if we are to give families affected by these diseases the chance to have healthy children, something most of us take for granted."
Professors Turnbull and Herbert, together with colleagues at the Newcastle Fertility Centre at Life, are working on two techniques that could prevent the transmission of mitochondrial diseases from mother to child. The first, 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.
Currently, the donor eggs are provided by women undergoing IVF, who donate half their eggs in return for a subsidised private treatment or, in the case of NHS patients, an additional cycle of treatment. Now, new permissions have been granted to reimburse altruistic egg donors for inconvenience and lost earnings.
Professor Alison Murdoch, Professor of Reproductive Medicine at Newcastle University and Head of Newcastle Fertility Centre at Life, says: "Many women have expressed an interest in helping because they have family or friends who have been affected by a mitochondrial disorder or because they are interested in helping the research. Until now, we have not been able to recruit non-patient donors but that has now changed.
"After receiving counselling, these women are able to donate eggs altruistically - and these donations will be vital in providing a source of eggs for the researchers to be able to take forward their work towards eliminating these currently incurable diseases."
Every cell in our body needs energy to function. This energy is provided by mitochondria, which are found in every cell apart from red blood cells. The information required to create these 'batteries' - the mitochondrial DNA - is passed down the maternal line, from mother to child. As well as causing mitochondrial diseases, mitochondrial failure has also been described in common diseases such as Parkinson's disease, suggesting that the impact of energy failure might be greater than expected and an important cause of ageing and degenerative disease.
Researchers at the Wellcome Trust Centre for Mitochondrial Research at Newcastle University (Professors Doug Turnbull, Robert Lightowlers, Patrick Chinnery, Robert Taylor, Mary Herbert and Zofia Chrzanowska-Lightowlers) aim to understand, treat and ultimately prevent mitochondrial diseases. To achieve this, they will combine clinical expertise in mitochondrial disease with ground-breaking laboratory studies.
To ensure continued research in this area, the Centre will nurture the next generation of scientists by developing a new training programme in mitochondrial medicine for outstanding young researchers.
Professor Turnbull and colleagues recognise that their work to prevent mitochondrial disease passing from mother to child involves new and potentially controversial IVF techniques. Therefore, the Centre will also focus on engagement with patients, the general public and policymakers to explain their work.
Professor Turnbull adds: "With this new funding from the Wellcome Trust and Newcastle University, we aim to develop a Centre which integrates internationally renowned basic and clinical researchers and trains the next generation of outstanding scientists. We recognise the importance of public support for our work and so will ensure that we open our research for our patients, the public and policymakers to follow and see what we are trying to achieve."

Newcastle Seeks Eggs
Despite about 100 women already coming forward to support the research, Newcastle fertility experts need more eggs to progress the work into becoming an accepted treatment.
The call follows two announcements which will have major implications for the Newcastle work; firstly, that the Wellcome Trust has given £4.4 million to Newcastle University to help develop the technique so that it is ready to be used in patients, and secondly, that the Government are to hold a public consultation into changing the law so that families could benefit from the new treatment.
But, the work could be held back if they don’t have enough eggs for the research.
Currently under the egg-sharing scheme women undergoing IVF can receive a reduction in their treatment cost if they donate half their eggs for research – using their remaining eggs for their own IVF.
As a result of the donations from women in the North East, over 500 eggs have been used for research.
Now, new permissions have been granted so that women can donate altruistically and receive reimbursement for inconvenience and loss of earnings.
Professor Alison Murdoch, Professor of Reproductive Medicine at Newcastle University and Head of Newcastle Fertility Centre at Life said: “Many women have expressed an interest in helping because they have family or friends who have been affected by a mitochondrial disorder or because they are interested in helping the research. Until now we have not been able to recruit non-patient donors but that has now changed.
“After receiving counselling these women are able to donate eggs altruistically – and these donations will be vital in providing a source of eggs for the researchers to be able to take forward their work towards eliminating these currently incurable diseases.
“We’ve had amazing support from women in the North East who have shown great thoughtfulness and compassion taking part in this process and we expect and hope that this continues.”
Donated eggs will be used to progress pioneering work in mitochondrial transplant. This is when the nucleus is removed from the donor egg and replaced with the fertilised nucleus. This new fertilised egg contains the DNA of the father and mother, and the mitochondria from the donor.
Mitochondria are the batteries of the cells. In some people there is a fault in the mitochondria which can cause diseases and around one in 200 children are born each year with mutations which in most cases cause only mild forms of mitochondrial disease. However, around one in 6,500 children are born with severe mitochondrial diseases, which include muscular weakness, blindness, fatal heart failure, liver failure, learning disability and diabetes and can lead to death in early infancy.
The Newcastle Fertility Centre at Life is part of Newcastle Hospitals NHS Foundation Trust.
Fact box:
• Women who wish to donate eggs altruistically need to be under 35
• Women need to live in the North East so that medical care can be provided
• Donors will receive £500 compensation
• Women who are having IVF treatment can continue to egg share for research and will have their treatment costs reduced by about £1,500, or to donate to another couple for a cost reduction.
Contacts and sources:
Newcastle University
Craig Brierley, Senior Media Officer
Wellcome Trust
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