World-first IVF trial reduces risk of babies inheriting diseases - Health - Life & Style
The findings were hailed as a breakthrough which raises hopes that women with mutations in their mitochondrial DNA could one day have children without passing debilitating or deadly diseases on to the children.
One out of every 5,000 births is affected by mitochondrial diseases, which cannot be treated, and include symptoms such as impaired vision, diabetes and muscle wasting.
In 2015, Britain became the first country to approve an in-vitro fertilisation (IVF) technique that uses a small amount of healthy mitochondrial DNA from the egg of a donor -- along with the mother's egg and father's sperm.
Some have called the result of this process "three-parent babies", though researchers have pushed back at this term because only roughly 0.1 percent of the newborn's DNA comes from the donor.
The results of the much-awaited UK trial were published in several papers in the New England Journal of Medicine.
'Important reproductive option'
Out of 22 women to undergo the treatment at the Newcastle Fertility Centre in northeast England, eight babies were born. The four boys and four girls now range from under six months to over two years old.
The amount of mutated mitochondrial DNA -- which causes disease -- was reduced by 95-100 percent in six of the babies, according to the research.
For the other two newborns, the amount fell by 77-88 percent, which is below the range that causes disease.
This indicates the technique was "effective in reducing transmission" of diseases between mother and child, one of the studies said.
The eight children are currently healthy, though one had a disturbance of their heart's rhythm which was successfully treated, the researchers said.
Their health will be followed up over the coming years to see if problems arise.
Nils-Goran Larsson, a Swedish reproductive expert not involved in the research, hailed the "breakthrough".
The new technique offers a "very important reproductive option" for families affected by "devastating" mitochondrial diseases, he added.
Ethical review
Mitochondrial donation remains controversial and has not been approved in many countries, including the United States and France.
Religious leaders have opposed the procedure because it involves the destruction of human embryos. Other opponents have expressed fears it could pave the way for genetically engineered "designer babies".
An ethical review carried out by the UK's independent Nuffield Council on Bioethics was "instrumental" in conducting the new research, the council's director Danielle Hamm said Wednesday.
Peter Thompson, head of the UK's Human Fertilisation and Embryology Authority which approved the procedure, said only people with a "very high risk" of passing on a mitochondrial disease would be eligible for the treatment.
Ethical concerns have also been raised over the use of mitochondrial donation for infertility in Greece and Ukraine.
French mitochondrial disease specialist Julie Stefann told AFP that "it is a question of the risk-benefit ratio: for a mitochondrial disease, the benefit is obvious".
"In the context of infertility, it has not been proven," she added.
Oxford University reproductive genetics expert Dagan Wells observed that "some scientists will be a little disappointed that so much time and effort has, so far, only led to the birth of eight children".
Among the children being closely monitored are three that showed some signs of what is known as "reversal", which is still little understood.
It is "a phenomenon where the therapy initially succeeds in producing an embryo with very few defective mitochondria, but by the time the child is born the proportion of abnormal mitochondria in its cells has significantly increased," he explained.
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Al-Ahram Weekly
7 days ago
- Al-Ahram Weekly
World-first IVF trial reduces risk of babies inheriting diseases - Health - Life & Style
Eight healthy babies have been born in the UK using a new IVF technique that successfully reduced their risk of inheriting genetic diseases from their mothers, the results of a world-first trial said Wednesday. The findings were hailed as a breakthrough which raises hopes that women with mutations in their mitochondrial DNA could one day have children without passing debilitating or deadly diseases on to the children. One out of every 5,000 births is affected by mitochondrial diseases, which cannot be treated, and include symptoms such as impaired vision, diabetes and muscle wasting. In 2015, Britain became the first country to approve an in-vitro fertilisation (IVF) technique that uses a small amount of healthy mitochondrial DNA from the egg of a donor -- along with the mother's egg and father's sperm. Some have called the result of this process "three-parent babies", though researchers have pushed back at this term because only roughly 0.1 percent of the newborn's DNA comes from the donor. The results of the much-awaited UK trial were published in several papers in the New England Journal of Medicine. 'Important reproductive option' Out of 22 women to undergo the treatment at the Newcastle Fertility Centre in northeast England, eight babies were born. The four boys and four girls now range from under six months to over two years old. The amount of mutated mitochondrial DNA -- which causes disease -- was reduced by 95-100 percent in six of the babies, according to the research. For the other two newborns, the amount fell by 77-88 percent, which is below the range that causes disease. This indicates the technique was "effective in reducing transmission" of diseases between mother and child, one of the studies said. The eight children are currently healthy, though one had a disturbance of their heart's rhythm which was successfully treated, the researchers said. Their health will be followed up over the coming years to see if problems arise. Nils-Goran Larsson, a Swedish reproductive expert not involved in the research, hailed the "breakthrough". The new technique offers a "very important reproductive option" for families affected by "devastating" mitochondrial diseases, he added. Ethical review Mitochondrial donation remains controversial and has not been approved in many countries, including the United States and France. Religious leaders have opposed the procedure because it involves the destruction of human embryos. Other opponents have expressed fears it could pave the way for genetically engineered "designer babies". An ethical review carried out by the UK's independent Nuffield Council on Bioethics was "instrumental" in conducting the new research, the council's director Danielle Hamm said Wednesday. Peter Thompson, head of the UK's Human Fertilisation and Embryology Authority which approved the procedure, said only people with a "very high risk" of passing on a mitochondrial disease would be eligible for the treatment. Ethical concerns have also been raised over the use of mitochondrial donation for infertility in Greece and Ukraine. French mitochondrial disease specialist Julie Stefann told AFP that "it is a question of the risk-benefit ratio: for a mitochondrial disease, the benefit is obvious". "In the context of infertility, it has not been proven," she added. Oxford University reproductive genetics expert Dagan Wells observed that "some scientists will be a little disappointed that so much time and effort has, so far, only led to the birth of eight children". Among the children being closely monitored are three that showed some signs of what is known as "reversal", which is still little understood. It is "a phenomenon where the therapy initially succeeds in producing an embryo with very few defective mitochondria, but by the time the child is born the proportion of abnormal mitochondria in its cells has significantly increased," he explained. Follow us on: Facebook Instagram Whatsapp Short link:
Egypt Independent
06-07-2025
- Egypt Independent
The first genome sequenced from ancient Egypt reveals surprising ancestry, scientists say
CNN — In a long-sought first, researchers have sequenced the entire genome of an ancient Egyptian person, revealing unprecedented insight about the ancestry of a man who lived during the time when the first pyramids were built. The man, whose remains were found buried in a sealed clay pot in Nuwayrat, a village south of Cairo, lived sometime between 4,500 and 4,800 years ago, which makes his DNA the oldest ancient Egyptian sample yet extracted. The researchers concluded that 80 percent of his genetic material came from ancient people in North Africa while 20 percent traced back to people in West Asia and the Mesopotamia region. Their findings, published Wednesday in the journal Nature, offer new clues to suggest there were ancient cultural connections between ancient Egypt and societies within the Fertile Crescent, an area that includes modern-day Iraq (once known as Mesopotamia), Iran and Jordan. While scientists have suspected these connections, before now the only evidence for them was archaeological, rather than genetic. The scientists also studied the man's skeleton to determine more about his identity and found extensive evidence of hard labor over the course of a long life. 'Piecing together all the clues from this individual's DNA, bones and teeth have allowed us to build a comprehensive picture,' said lead study author Dr. Adeline Morez Jacobs, visiting research fellow at England's Liverpool John Moores University, in a statement. 'We hope that future DNA samples from ancient Egypt can expand on when precisely this movement from West Asia started.' Pottery and other artifacts have suggested that Egyptians may have traded goods and knowledge across neighboring regions, but genetic evidence of just how closely different ancient civilizations mingled has been harder to pin down because conditions such as heat and humidity quickly degrade DNA, according to the study authors. This man's remains, however, were unusually well-preserved in their burial container, and the scientists were able to extract DNA from one of the skeleton's teeth. While the findings only capture the genetic background of one person, experts said additional work could help answer an enduring question about the ancestry of the first Egyptians who lived at the beginning of the longest-lasting known civilization. A pottery vessel containing the man's remains was discovered in 1902. Garstang Museum of Archaeology, University of Liverpool Decoding a DNA puzzle Swedish geneticist Svante Pääbo, who won the Nobel Prize in physiology or medicine in 2022 for sequencing the first Neanderthal genome, made pioneering attempts 40 years ago to extract and study DNA from ancient Egyptian remains, but he was unable to sequence a genome. Poor DNA preservation consistently posed an obstacle. Since then, the genomes of three ancient Egyptian people have been only partially sequenced by researchers using 'target-enriched sequencing' to focus on specific markers of interest in the specimens' DNA. The remains used in that work date back to a more recent time in Egyptian history, from 787 BC to AD 23. It was ultimately improvements in technology over the past decade that paved the way for the authors of the new study to finally sequence an entire ancient Egyptian genome. 'The technique we used for this study is generally referred to as 'shotgun sequencing,' which means we sequence all DNA molecules isolated from the teeth, giving us coverage across the whole genome,' wrote study coauthor Dr. Linus Girdland-Flink, a lecturer in biomolecular archaeology at the University of Aberdeen in Scotland, in an email. 'Our approach means that any future researcher can access the whole genome we published to find additional information. This also means there is no need to return to this individual for additional sampling of bone or tooth material.' The man, who died during a time of transition between Egypt's Early Dynastic and Old Kingdom periods, was not mummified before burial because it was not yet standard practice — and that likely preserved his DNA, the researchers said. 'It may have been a lucky circumstance — perhaps we found the needle in the haystack,' Girdland-Flink said. 'But I think we will see additional genomes published from ancient Egypt over the coming years, possibly from individuals buried in ceramic pots.' While Egypt's overall climate is hot, the region has relatively stable temperatures, a key factor for long-term genetic preservation, Girdland-Flink said. That climate, the clay pot used for burial and the rock tomb it was placed in all played a role in preventing the man's DNA from deteriorating, he said. The clay pot was found inside a tomb cut into the rock at Nuwayrat, south of Cairo. Garstang Museum of Archaeology, University of Liverpool Tracing unique ancestry For their analysis, the researchers took small samples of the root tips of one of the man's teeth. They analyzed the cementum, a dental tissue that locks the teeth into the jaw, because it is an excellent tool for DNA preservation, Girdland-Flink said. Of the seven DNA extracts taken from the tooth, two were preserved enough to be sequenced. Then, the scientists compared the ancient Egyptian genome with those of more than 3,000 modern people and 805 ancient individuals, according to the study authors. Chemical signals called isotopes in the man's tooth recorded information about the environment where he grew up and the diet he consumed as a child as his teeth grew. The results were consistent with a childhood spent in the hot, dry climate of the Nile Valley, consuming wheat, barley, animal protein and plants associated with Egypt. But 20 percent of the man's ancestry best matches older genomes from Mesopotamia, suggesting that the movement of people into Egypt at some point may have been fairly substantial, Girdland-Flink. Dental anthropologist and study coauthor Joel Irish also took forensic measurements of the man's teeth and cranium, which matched best with a Western Asian individual. Irish is a professor in the School of Biological and Environmental Sciences at Liverpool John Moores University. The study provides a glimpse into a crucial time and place for which there haven't been samples before, according to Iosif Lazaridis, a research associate in the department of human evolutionary biology at Harvard University. Lazaridis was not involved with the new study but has done research on ancient DNA samples from Mesopotamia and the Levant, the eastern Mediterranean area that includes modern-day Syria, Lebanon, Israel, the Palestinian territories, Jordan and parts of Turkey. The remains are now kept at World Museum Liverpool. Garstang Museum of Archaeology, University of Liverpool Researchers have long questioned whether the Egyptians from the beginnings of the Dynastic civilization were indigenous North Africans or Levantine, Lazaridis said. 'What this sample does tell us is that at such an early date there were people in Egypt that were mostly North African in ancestry, but with some contribution of ancestry from Mesopotamia,' Lazaridis said. 'This makes perfect sense geographically.' Lazaridis said he hopes it's the beginning of more research on Egypt, acknowledging that while mummification helped preserve soft tissue in mummies, the chemical treatments used in the mummification process were not ideal for ancient DNA preservation. 'I think it is now shown that it is feasible to extract DNA from people from the beginnings of Egyptian civilization and the genetic history of Egypt can now begin to be written,' he said. A mysterious burial By studying the man's skeleton, the team was able to determine that he was just over 5 feet tall and between 44 and 64 years old, likely closer to the end of that range — 'which is incredibly old for that time period, probably like 80s would be today,' Irish said. Genetic analysis suggests he had brown eyes and hair and dark skin. And his bones told another tale: just how hard he labored in life, which seems at odds with the ceremonial way he was buried within the ceramic vessel. Indications of arthritis and osteoporosis were evident in his bones, while features within the back of his skull and vertebra showed he was looking down and leaning forward for much of his lifetime, Irish said. Muscle markings show he was holding his arms out in front of him for extended periods of time and carrying heavy materials. The sit bones of his pelvis were also incredibly inflated, which occurs when someone sits on a hard surface over decades. There were also signs of substantial arthritis within his right foot. Irish looked over ancient Egyptian imagery of different occupations, including pottery making, masonry, soldering, farming and weaving, to figure out how the man might have spent his time. 'Though circumstantial these clues point towards pottery, including use of a pottery wheel, which arrived in Egypt around the same time,' Irish said. 'That said, his higher-class burial is not expected for a potter, who would not normally receive such treatment. Perhaps he was exceptionally skilled or successful to advance his social status.' Before the pottery wheel and writing systems were shared between cultures, domesticated plants and animals spread across the Fertile Crescent and Egypt in the sixth millennium BC, as societies transitioned from being hunter-gatherers to living in permanent settlements. Now, the study team wonders whether human migrations were also part of that shift. Additional ancient genomes from Egypt, Africa and the Fertile Crescent could supply answers about who lived where and when. 'This is just one piece of the puzzle that is human genetic variation: each person who ever lived — and their genome — represents a unique piece in that puzzle,' Girdland-Flink said in an email. 'While we will never be able to sequence everyone's genome, my hope is that we can gather enough diverse samples from around the world to accurately reconstruct the key events in human history that have shaped who we are today.' Sign up for CNN's Wonder Theory science newsletter. Explore the universe with news on fascinating discoveries, scientific advancements and more.
Egypt Independent
20-04-2025
- Egypt Independent
Egypt, Sweden discuss boosting cooperation in healthcare domains
CAIRO, April 19 (MENA) – Chairman of the Egypt Healthcare Authority Ahmed al-Sobky conferred with Swedish Ambassador to Egypt Dag Juhlin-Dannfelt on horizons of cooperation and boosting partnership in the fields of healthcare between both sides. The meeting tackled mechanisms to implement twinship program with Karolinska Institute of Sweden, one of the most prominent international medical and academic institutions with an aim to exchange medical expertise under the umbrella of HUB program for international twinship that was launched by the authority to contribute to transferring and localizing international health examples in Egypt and benefiting from the advanced Swedish expertise in this field. During the meeting, Sobky lauded the efforts of former Swedish ambassador Håkan Emsgård to support health cooperation track between Egypt and Sweden. Sobky asserted the importance of fruitful partnership with the Swedish side in the fields of green transformation of hospitals, digital solutions, developing training programs in addition to cooperation with AstraZeneca company in supporting cancer patients and improving their treatment results. The authority aims at transferring advanced Swedish health system to Egypt via strategic partnership, Sobky said. He added that the Egyptian market has promising opportunities for investment in the sector of healthcare to support promoting Egyptian-Swedish relations within the framework of partnership between Egypt and the EU to achieve sustainable developmental and investment goals. Meanwhile, Juhlin-Dannfelt lauded Egypt's healthcare efforts, especially its humanitarian role in treating and supporting the Sudanese brethren. (MENA)
