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Graham writes ...  Credit: Source unknown. Welcome everyone to another year of blog posts by John and myself. I hope you all had a lovely time anticipating and celebrating Emmanuel – God with us – over the Christmas period! And now that the calendar has clicked over to 2026, it is customary to wish all our readers a blessed and peaceful New Year. I don’t normally bother with New Year resolutions but this year I made one which was to try to make these blog posts shorter – however, I think I may have broken it already with this post? Anyway, enjoy! If you have read any of our past posts, or indeed this one, please leave a greeting or a comment at the end of this one – thank you. The topic today involves another anniversary – 10 years since the first gravitational wave detection. However, that’s not quite accurate since the first wave to be detected hit our instruments at 10.51 UTC on 14 September 2015. It then took an army of researchers from 80 Institutions in 15 countries until February 2016 to work out what had been ‘seen’ with sufficient confidence before going public. So, it is approximately a decade since the first rippling ‘whisper’ in spacetime was announced, an event that is now catalogued, among many others, simply as GW150914. So, this year we mark the 10th anniversary of this historic event, and reflect on what this discovery means, how it transformed astrophysics, and what lies ahead in the new era of gravitational-wave astronomy.  The signals from the two US LIGO systems, confirming the existence of gravitational waves, has hung in my office for 10 years! Credit: GrahamSwinerd. In the above, I described the signal as a ‘whisper’, as it was extremely weak. This is a consequence of the event being very distant (1.3 billion light-years away) and also because, of the known fundamental forces, gravity is 10 to the power of 36 times weaker than electromagnetism (the other long-range force). Detecting the wave in this instance came down to measuring a change in distance of the order of a fraction of the diameter of a proton – a task that seemed impossible for the many decades since gravitational waves were discovered theoretically by Albert Einstein. Interestingly, Einstein published his discovery in 1916, so it took the experimentalists exactly 100 years to catch up with him! For me, it was one of those events when you remember where you were and what you were doing when the news broke. So how come this rather esoteric happening registered as so significant for me? Many years ago in 1975 I graduated with a PhD on the topic of gravity waves in Einstein’s theory, and I honestly thought that the detection of such events would not happen in my lifetime. When the first historic detection of gravity waves occurred, I was at Lee Abbey, Devon (LAD) co-hosting a conference with John. For those of you who are familiar with LAD, 2015 into 2016 was the period when a major refurbishment of the main house was underway, and as a consequence the conference was held in the neighbouring youth activity centre called the Beacon – great days.  The Italian LIGO, located near Pisa, illustrates the vast L-shape laser interferometer characteristic of current gravity wave observatories. Credit: the VIRGO collaboration. At the time of the discovery there were only two gravity wave observatories (referred to as LIGO, standing for ‘Laser Interferometer Gravitational wave Observatory’) operating in the world and both of these were in America, one in Livingston, Louisiana, and the other in Hanford, Washington State. This meant that it was not possible to triangulate the position of the event in the night sky, but the attenuation of the energy allowed the distance to be estimated. So, what was it that caused the subtle ‘chirp’ in the detectors? Quoting the Executive Director of the LIGO at that time, David Reitze - "Take something about 150 km in diameter, and pack 30 times the mass of the Sun into that, and then accelerate it to half the speed of light. Now, take another thing that's 30 times the mass of the Sun, and accelerate that to half the speed of light. And then collide them together. That's what we saw here. It's mind boggling." Basically he’s describing two monster black holes spiralling around each other, getting closer and closer to each other due to the huge amount of orbital energy being lost in the form of gravitational waves. One has a mass of 30 solar masses (1 solar mass = the mass of our Sun) and the other about 35 solar masses. In the moments just before they impact and coalesce they are orbiting each other several tens of times per second. At the moment when their event horizons merge and they become one, the event produces a pulse of pure radiate energy in the form of gravitational waves equivalent to 3 solar masses (E equals m c squared!). It is the huge energy of this pulse that allowed the LIGO systems to detect the event, even though the black holes were so far away. To put this pulse of gravity wave energy into perspective, in that brief moment of impact the energy produced was more than the combined luminous output of all the stars in the Universe! Extraordinary …!  Ten years have seen a great improvement in reducing noise and increasing sensitivity of the the LIGO systems. Credit: source unknown. Way back in February 2016, I was blogging on a promotional website for another book (1), this one about spaceflight for lay persons, and of course I had to write about the events described above. There is a whole lot of interesting detail explained there, hopefully in an accessible way, that I wouldn’t want to repeat here. So, if you are sufficiently interested, please have a look at that post which can be found here. I think it conveys nicely my excitement at the time, and covers things like:
For those of you not keen on taking this diversion, however, how each LIGO works can be explained briefly by the following summary. Each LIGO is effectively a laser interferometer, where a high-power laser produces a light beam which is divided by a beam splitter. Each beam is then directed at right angles to each other down two 4 km long evacuated tunnels that are arranged in an L-shaped configuration. The two beams are then bounced back and forth by mirrors, before eventually returning to their starting point. If the passage of gravity waves has disturbed the curvature of space-time in the observatory there will be a difference in the length of the light paths of the two beams, which is estimated by analysis of the interference between the beams in the detector. This difference in the length of the light paths is anticipated to be miniscule – less than the diameter of a sub-atomic particle, as mentioned above!  The Japanese LIGO is built underground to reduce noise. Credit: ICRR, University of Tokyo. Ten years on from the first detection there is now a global network of gravitational wave detectors, LIGO (USA), Virgo (Italy) and KAGRA (Japan), so it is now possible to determine the position of each event. This allows events to be observed by both gravitational wave detectors and across the electromagnetic spectrum (gamma- and X-rays, optical and radio) – an activity referred to as multi-messenger astronomy. In that time nearly 300 gravitational wave events have been catalogued including neutron star (2) collisions. Gravitational wave astronomy has matured into a science which has unveiled a Universe full of intriguing, violent events which were previously unforeseen. It has also allowed us to test our current physical theories, especially Einstein’s gravity in the strong field regime. Remarkably, after 110 years Einstein still stands, but he has a long time to go to beat the 200-odd years that Newton’s theory reigned before being falsified. KAGRA (Kamioka Gravitational Wave Detector) is the most recent detector to became operational (February 2020) in Japan, and is the first gravitational wave detector built underground and the first to utilize cryogenic mirrors, which help reduce thermal noise and improve sensitivity. Looking beyond this, next-generation observatories like the Cosmic Explorer (USA) and the Einstein Telescope (Europe) promise an order-of-magnitude leap in reach and precision.  An impression of the US proposal for a next-generation observatory, Cosmic Explorer. Credit: MIT.  An impression of the Einstein Telescope, Europe's proposal for a future GW detector. Credit: ASPERA. So, what opportunities for future research does the relatively new science of gravitational wave astronomy offer? As well as providing new tests for our theoretical understanding of gravity, the main avenues foreseen at present include:
There has recently been much research concerning the evaluation of Hubble’s constant Ho, which describes the rate of expansion of the Universe. A variety of existing techniques has produced results which are not consistent with each other – a situation that has been labelled ‘the Hubble Tension’ or the ‘Crisis in Cosmology’ (see the blog post for June 2024 for details – click on the relevant date displayed on the right hand side of this page). Gravitational wave events, particularly neutron star mergers, offer an independent way to measure the Universe's expansion which is a useful addition to the debate. The distance d to the merger can be estimated from the gravity wave signal’s amplitude and its recessional speed v from the redshift of its host galaxy's light, hence giving an estimate of Ho ( Ho = v/d). Probing the early Universe For thousands of years after the Big Bang the Universe comprised a very hot and dense ‘fireball’, which was opaque to the transmission of electromagnetic radiation. Then, about 380,000 years after the initial event, matter and radiation ‘decoupled’ and the light we now see as the cosmic microwave background (CMB) was free to propagate throughout the Universe. As a consequence ‘conventional’ astronomy, using the electromagnetic spectrum, is effectively barred from ‘seeing’ the creation event near time zero. However, we do know that cosmic inflation (see blog post for May 2023 for details), if it happened, would have produced copious amounts gravitational radiation which would still exist today as a gravitational wave background. And I suspect that such a background would be saturated with information about the creation event, in the same way that the microwave background is packed with information about the decoupling era of the early Universe. I have no idea what such a gravity wave background observatory might look like, but gravity wave cosmology may be the only means of acquiring direct observations of the early events that gave birth of the Universe we see today.
To finish I just wanted to share a poem composed by a good friend Carol Plunkett in 2016. She is not in any way a scientist, but she was nevertheless inspired to write this by the discovery of gravitational waves.  The Only Echo Did man just hear the echo of the Universe’s start? When something out of nothing oscillated from a Heart? When Life, vast and unfathomable occurred when it was not, and Space and Time immeasurable commenced its divine plot. So that, in some millennia, a knowledge would arise and render beings capable of listening to the skies. And while with probing instruments they scoured the realms above they almost tuned their frequency to that first Word Of LOVE. Carol Plunkett © Carol Plunkett, February 2016. The 2015 detection was like hearing a whisper from the cosmos — subtle, fleeting, yet transformative. Over the past decade, that whisper has grown into a chorus, with each gravity wave event telling a story of cataclysm, transformation and cosmic evolution. As we celebrate ten years, the journey is far from over. The detectors will get better, the observations richer, and who knows — perhaps in another decade we will trace gravitational waves back to the very origin of the Universe itself. I think I was born too early!
Graham Swinerd Southampton, UK January 2026 (1) How Spacecraft Fly – spaceflight without formulae, Graham Swinerd, Spinger Science, 2008. (2) Neutron stars are formed as the remnant of a dying star. At the end of life, the star runs out of fuel which causes a catastrophic collapse. To become a neutron star, it needs an initial mass between roughly 8 and 25 solar masses, leading to a collapsed core mass (after a supernova) of about 1.4 to 3 solar masses. The result of this process produces a neutron star, a super-dense object comprised of neutrons. Anything more massive than about 3 solar masses will collapse further to form a black hole.
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Graham writes …  Artist's impression of Artemis Earth rise. Credit: NASA. This is a very brief heads-up for all you space enthusiasts out there – the launch of a crewed mission to the moon in early February, if all goes well with pre-flight activities. NASA is targeting February 6, 2026, for the launch of Artemis II, the first crewed mission to the vicinity of the Moon in over 50 years (since Apollo 17 in December 1972). This mission, an echo of the Apollo 8 mission in December 1968, will send a crew of four astronauts on a 10-day journey to perform a lunar flyby, testing critical spacecraft systems before future landing missions.  A schematic of the mission profile. Credit: Canadian Space Agency. Mission Overview Mission Goal: A crewed 10-day flight that will travel approximately 4,600 miles (7,400 km) beyond the far side of the Moon on a free-return trajectory. This mission serves as a critical test for the Space Launch System (SLS) rocket and the Orion spacecraft's life support and navigation systems. The Crew: The four-member crew are Commander Reid Wiseman, Pilot Victor Glover, and Mission Specialists Christina Koch (NASA) and Jeremy Hansen (Canadian Space Agency). Launch Windows: If the February 6 attempt is delayed, NASA has identified additional launch opportunities within the same window (February 7, 8, 10, and 11) and subsequent periods in March and April 2026.  The crew meet the Orion spacecraft - their home for the ten-day period of their lunar mission. Credit: NASA. Pre-Launch Status
Rocket Rollout: The fully integrated SLS rocket and Orion capsule are being rolled out from the Vehicle Assembly Building to Launch Pad 39B at Kennedy Space Centre as I write (17 January, 2026). Wet Dress Rehearsal: A final "wet dress rehearsal" – a full practice countdown including propellant loading – is planned for the end of January to ensure all systems are flight-ready. Flight Readiness Review: Following these tests, mission managers will conduct a final assessment before officially committing to the February 6 launch date. I shall probably blog again on this topic, but otherwise you can track mission progress and the official countdown on the Artemis II mission page. Graham Swinerd Southampton, UK January 2026 Graham writes ...  It's well into December now, and I was due to write this month's blog post. However, it's clear that I'm not going to get to it - my sincere apologies. However, both John and I would like to wish all our readers a Good Christmas and a peaceful and blessed New Year! Please take a moment to play the attached YouTube video of O come, O come, Emmanuel, one of my favourite carols. As you may know, it is an Advent carol, when we look forward in anticipation of the coming of Jesus. This arrangement, by Taylor Scott Davis, is not the traditional one, but hopefully it will allow a brief moment of peace and reflection among the business of the Christmas season. It is performed by the VOCES8 Foundation Choir and Orchestra, with members of Apollo 5. I hope to resume 'normal service' in the New Year. A most likely topic at present is the marking of the 10th anniversary of the announcement of the detection of gravitational waves in February 2016. If you have been following our monthly posts over 2025, please leave an indication that you are there - a like, a greeting or a brief comment. Thank you. Graham Swinerd
Southampton, UK December 2025 John writes ...  Introduction It is now 72 years since the publication of the papers which presented the double helical structure of DNA to the scientific community (and eventually to the world). It is an event embedded both in the history and the folklore of molecular biology and genetics, as are the names of at least two of the scientists involved, namely Francis Crick and James Watson. Watson died on November 6th, aged 97. Later in this post I will present a brief obituary, However, before that I want to look back, ‘beyond the double helix’, well before 1953, to give us the historical context and to consider how science works in the ‘real world’. Standing on the shoulders of giants We need to go back to 1869 to note the actual discovery of DNA. A biologist called Friedrich Miescher, working in the chemistry laboratory of the University of Tübingen (which was actually in Tübingen Castle) used pus from clinical bandages as sources of human cells for chemical analysis. He discovered a compound rich in phosphate and nitrogenous bases which he showed to be located in the cell nucleus; he was also able to isolate the same compound from salmon sperm. He called the compound ‘nuclein’, which we now know to have been DNA, and later speculated that it might have some connection with inheritance. Miescher is one of the ‘forgotten people’ of DNA research and deserves to be much more widely known about than he actually is (see R. Dahm, 2005).  Friedrich Miescher. Credit: Public Domain. Three years before Miescher’s discovery, an Austrian friar, Gregor Mendel, Abbott of St Thomas’s Abbey, Brno (then in the Austro-Hungarian Empire, now in the Czech Republic), had published the findings from his experiments on inheritance of traits in pea plants. One of the key conclusions that he made from his work was that heritable traits were based in actual physical, albeit invisible, ‘factors’ which were passed on from generation to generation. However, the paper was not widely noticed until 1900, when it was rediscovered independently by Hugo de Vreis and Carl Correns; Mendel thus started to receive the credit that he deserved for his ground-breaking work. But what the Mendelian units of heredity (named ‘genes’ by Danish botanist, Wilhelm Johannsen in 1909) actually were, remained a mystery.  Gregor Mendel. Credit: Public Domain.  A deoxyribonucleotide. A base, in this case adenine, is joined to deoxyribose phosphate. Thus, by the early years of the 20th century, there were two paths across the genetic landscape. However, they were about to merge. Analysis of cell nuclei revealed the existence of a substance called ‘chromatin’ which contained nuclein/DNA and protein. Individual units of chromatin appear as chromosomes (‘coloured bodies’) prior to cell division and behave during division in a manner consistent with there being or containing the Mendelian units of heredity. By this time too, the general structure of DNA was being worked out, namely a large molecule made up of just four different deoxyribonucleotides. I need to unpack this: a nucleotide is nitrogenous base that is linked to a sugar-phosphate molecule. In DNA, the sugar is deoxy-ribose (ribose lacking an oxygen atom), hence, deoxyribonucleotides and deoxyribonucleic acid; in RNA, the sugar is ribose. How the four different deoxyribonucleotides were arranged along the length of the molecule was at that time unknown; one possible model was that DNA was a set of repeats of a tetra-deoxyribonucleotide, i.e., an array of linear groups of deoxyribonucleotides, each group containing one copy of each of the four types (A,C,G,T). So, chromosomes behave as if they contain genes, the Mendelian units of heredity. But which component of chromatin actually carries the genetic information? The general opinion was that proteins had the wide variety needed whereas it was thought that DNA, a molecule made up of only four building blocks, did not. At this point I need to introduce Frederick Griffith, a British medical scientist working at the Liverpool Royal Infirmary. In the late 1920s, he showed that a non-virulent form of Pneumococcus could be transformed into a virulent form if co-injected into mice with dead cells of a virulent strain. The dead cells thus contained something that provided the genetic information to confer virulence. Griffith called this the ‘transforming principle’ but he did not know what it was. It took another 16 years after Griffith’s publication for the transforming principle to be identified. An American team, Oswald Avery, Colin MacLeod and Maclyn McCarty, working at the Rockefeller Institute for Medical Research, separated the cellular components of virulent-strain Pneumococcus, focussing in particular on proteins and DNA. These were then used in attempts to transform the non-virulent strain into the virulent strain. The results were clear – proteins did not transform the non-virulent strain but DNA did. DNA was thus shown to carry genetic information. It is my view that the experiments of Griffiths and of Avery, Macleod and McCarty were absolutely key moments in research on DNA which eventually led, via elucidation of the double helix, to modern molecular genetics. The demonstration that DNA is the ‘genetic material’ inevitably led to a flurry of research directed at understanding its structure, both in terms of its detailed chemical composition and of its ‘architecture’. One of those who focussed on DNA was Erwin Chargaff, working at Columbia University in New York (having fled from Germany in 1935 because of Nazi attitudes to and policies about Jews). He analysed DNA from several different organisms and came up with two major findings, published in 1950, which became known as Chargaff’s rules. The first rule is that in any sample of DNA, the molecular concentration of the base A equals the molecular concentration of the base T and the molecular concentration of the base G equals the molecular concentration of the base C. Thus, somehow, in synthesising DNA, the cell equates the amounts of the larger two-ring bases (A and G) specifically with the amounts of the smaller single-ring bases. How was that done? Chargaff’s second rule was that the overall concentration of A+T and G+C varies between organisms. This is to be expected if DNA is the genetic material (and also debunks the tetra-deoxyribonucleotide hypothesis that I mentioned earlier). Chargaff visited Cambridge in 1952 to talk about his work and while there he met Crick and Watson. He was not impressed. In an interview with a science historian, Horace Judson he said that ‘they impressed me by their extreme ignorance’, referring specifically to what he perceived as their ignorance of organic chemistry. And so to the double helix It has been quite a journey since 1869, traversing scientific landscapes in genetics and biochemistry/biophysics – but we are now in the very early 1950s. And here are Francis Crick and James Watson in Cambridge and Maurice Wilkins, Rosalind Franklin and Ray Gosling at King’s College, London. Gosling was a PhD student working under the direction of Franklin and later of Wilkins. It was he who took the famous ‘Photo 51’, an X-ray crystallographic image of DNA, showing clear evidence for a double helical structure. He and Franklin co-authored the second of the three papers published consecutively in the leading science research journal Nature on April 25th, 1953, the first, of course, being the major reveal of the double helix by Watson and Crick (see M.J.Tobin, 2004).The latter pair were fortunate to have had access to Photo 51 – or as Wikipedia puts it so tactfully: ‘The crystallographic experiments of Franklin and Gosling, together with others by Wilkins, produced data that helped James Watson and Francis Crick to infer the structure of DNA.  Photo 51 – Image of DNA obtained by X-ray crystallography. Credit: Raymond Gosling/ King's College, London archive.  Ray Gosling in 2003, aged 76. Credit: Mary Gosling. In a church service recently, I asked the congregation if they had heard of Watson and Crick (I emphasise that the question was entirely appropriate for the talk I was giving!). Almost everyone put their hand up. I then asked about Rosalind Franklin; about half of the congregation showed that they had heard of her. However, when I asked about Ray Gosling, only one person, a senior lecturer in Maths at Exeter University, raised his hand. Gosling, who died in 2015, aged 88, is one of those (nearly) forgotten heroes of science which is why I have focussed on him here. I need to add that after obtaining his PhD, he had a successful career in science, eventually becoming Professor of Physics Applied to Medicine at Guys Hospital Medical School. Returning to DNA, the team at King’s College were already of the opinion that it had a helical structure and Crick, with his experience in and knowledge of biophysics, took it a bit further in proposing a double helix. But how did that tie in with the chemistry? He and Watson knew of Chargaff’s rules (see above) but had not yet developed the concept of base-pairing. Eventually however, after a lot of model building, some brilliant flashes of intuition and some pure guess-work, the double helical model ‘emerged’. The reason for Chargaff’s rule became clear: in the double helix, A or G in one strand are base-paired with, respectively T or C in the other. However, it was either a stroke of genius or a brilliant guess that, in order to fit the dimensions implied by the X-ray data, one strand had to be upside-down in relation to the other (the two strands are ‘anti-parallel’).  1953: James Watson (left) and Francis Crick (right) with their model of the double helix. Credit: University of Cambridge archive. When we look at the structure of DNA we can see how perfectly it is designed. The genetic code is a linear array of bases. There is no constraint on which base (deoxyribonucleotide) is joined to which base in that linear array, so enormous variety is possible. The only constraint is that a base in one strand determines which base occurs at that position in the opposite strand. The specificity of this base pairing means that DNA is copied accurately in preparation for cell division. The two strands separate and each acts a template for synthesis of its complement; the code is thus passed on. Further, specific base-pairing also means that working copies of a gene can be made in order for the cell to read and act on the code in that copy (the working copy is actually an RNA molecule, messenger RNA). As I have said elsewhere, the design of DNA is a work of genius. One last question: would the London team have eventually come to the same conclusion? Most scientists who were aware of their work believe that they, and in particular, Franklin and Gosling, would have done so. But of course, the answer is irrelevant. Crick and Watson got there first. A career in DNA I think there can be little disagreement with the view that elucidation of the structure of DNA was the most significant discovery in biology in the 20th century. From it has flowed a vast amount of research and application of the findings of that research. The ‘golden age’ of research on genes was already underway when I arrived in Cambridge about a decade after the famous papers had been published and the place was obviously buzzing with excellence in nucleic acid and protein research. Crick was still there (Watson had gone back to the USA) and had moved from the Medical Research Council’s lab in the Cavendish Laboratory (Physics Department) to the same organisation’s newly established (but already very prestigious) Laboratory of Molecular Biology on the southern edge of the city. I had gone to Cambridge with a strong interest in plants and vaguely expected to emerge from my Natural Sciences degree as a plant ecologist. However, I was thrilled by lectures on molecular genetics and biochemistry which pulled me to the lab rather than the field. In my PhD project, I looked at the onset of DNA replication as plant cells emerge from dormancy and that set me on a career in research on the biochemical mechanisms (and the control of those mechanisms) involved in gene expression and especially in DNA replication in plants. I am grateful for that career and feel, as Dame Dr Jane Goodall has also stated about her work on chimpanzees and on environmental conservation, that I was following God’s calling.  A much younger John analyses the results from a sequencing experiment in 1990. At that time we were still using the original, rather slow method, invented by Fred Sanger in 1977. Credit: University of Exeter. Obituary – James Watson, 1928 -2025 It was obvious from an early age that James Watson was very bright. He went to the University of Chicago aged 15 and graduated with a degree in Zoology at 19. He was very interested in Ornithology but was persuaded by Schrödinger (yes, that Schrödinger) that he should study the more molecular and chemical aspects of biology. Thus, his PhD research, conducted at Indiana University, Bloomington, was on the properties of bacteriophages (viruses which infect bacteria). He then spent a year as a post-doctoral researcher in Copenhagen before joining Francis Crick in the Cavendish Laboratory in Cambridge. As is evident from what I have already written, their collaboration was very successful. They were very aware of the significance of their work – at the end of the day in which they had finally worked out the double helical structure, they walked into the Eagle pub in Bene't Street, Cambridge and announced: ‘We have discovered the secret of life’. In his book, The Double Helix, Watson says that he rarely saw Francis Crick in a modest mood – but those who knew them both, suggest that he could have said the same about himself. On returning to the USA, Watson spent two years at the California Institute of Technology, working on the structure of RNA, followed by another year at the Cavendish Laboratory, before joining the academic faculty in the Biology Department at Harvard University at ‘the other Cambridge’ – across the river from Boston, Massachusetts. There, he was part of a group of scientists working on the roles of RNA in gene expression and who thus made a major contribution to our understanding of how genes actually work in the cell to direct protein synthesis. However, he was not always the easiest of colleagues. Those working in non-molecular aspects of Biology felt that he denigrated their work, believing it to be less important or less significant than his. In 1968, Watson was appointed Director of the Cold Spring Harbor Laboratory on Long Island, New York. His time there was very successful. In the words of Tim Radford, former science correspondent of The Guardian, he turned the Laboratory into a ‘scientific powerhouse’ (see Tim Radford’s obituary here), especially in cancer genetics and molecular biology but also in several other fields, including plant molecular biology. Following on from that success, in 1990 he was appointed as Director of the Human Genome Project. The project, initiated that year, was based at the National Institutes of Health in Bethesda, Maryland (although there were subsidiary centres such the Wellcome Sanger Institute, near Cambridge, UK). Having set up the main (US) branch of the project and ensured that genes sequences would be published (and not patented), Watson returned to Cold Spring Harbor in 1992, where he was appointed President of that institution. In respect of the Human Genome Project itself, as our readers will know already, it was a great success and by 2003 (50 years after the publication of the structure of DNA) a complete sequence of an ‘average’ human genome was published.
There can be no doubt that over the course of a long career, James Watson has made a very large contribution to our knowledge of molecular biology. This was recognised and honoured by the world science community, and by universities and governments all over the globe. However, in 2007, a shadow was cast over that career when he stated that people of African heritage were genetically less intelligent than people of Caucasian heritage. The Science Museum in London withdrew an invitation to lecture and he was asked to resign from his post at Cold Spring Harbor (although he was given an honorary fellowship). In 2019, in a TV documentary, he repeated those views and at that point the Cold Spring Harbor Laboratory withdrew his honorary emeritus fellowship. A sad end to an otherwise glittering career. John Bryant Topsham, Devon November 2025 Graham writes ...  Graham and John co-led the 7th conference in the ‘Big Bang to Biology’ series, which was hosted by Lee Abbey, Devon during the week of 6th-10th October 2025. And what a great place to do it! Lee Abbey is a Christian retreat, conference and holiday centre situated on the North Devon coast near Lynton, which is run by an international community of predominantly young Christians. The main house nestles on the hillside, overlooking a grand view of the beautiful North Devon coastline in a 280-acre (113 hectare) Estate of farmland, woodland and coastal countryside. It even has its own beach, but there wasn’t too much call for bathing during this early October period!  Lee Abbey main house, in low October sun. The house in its current gothic revival style was originally built in the 1850s as a family home, and it wasn’t until 1946 that the house was adopted ‘to equip and serve the church and its people’. The house now has been refurbed to modern standards and is a delightful place to host a conference. The South West Coast Path passes through the Estate and the Exmoor National Park is just a short drive away. The meeting took place just before the Autumn clock change so that nightfall occurred at a reasonable time (not too late) in the evening. The site is on the edge of the Exmoor National Park Dark Sky Reserve, and has an amazing night sky, but unfortunately a full moon and persistent high-level cloud prevented any organised star-gazing activity.  The main meeting room for the conference - the Octagonal Lounge - is one of my favourite speaking venues. It was originally the family's music room when the house was built in the 1850s. Credit: Jane Tompsett.  We were pleased to welcome around 40 guests to the conference, who had booked in for a Science and Faith extravaganza. One of the joys of Lee Abbey is that speakers and delegates share the whole experience; meeting, eating and talking together for the whole week. The guests were very enthusiastic, encouraging and gracious (which made the week a pleasure for us speakers) coming as they did with a hunger to learn more and to share their own thoughts and experiences in discussion. It was also great to welcome Liz Cole back to the conference, with her new publication ‘God’s Cosmic Cookbook’ (1) – cosmology for kids!   Graham and John were the main speakers for the week. The usual format for the conference is to have two one-hour sessions each morning, with the afternoons remaining free to allow time to relax or to explore the local area. The opportunities to walk the Estate or the ‘Valley of Rocks’ are many and varied, and guests often find that the car remains in the car park for the week. The Valley of Rocks is very close-by, literally a 15- or 20-minute walk from the House, and is designated an Area of Outstanding Natural Beauty. Its U-shaped, dry valley is known for its dramatic cliffs and ancient rock formations. Unusually the valley runs parallel to the coast, and it is believed that a river once flowed here.   The Valley of Rocks is very close by, providing ample opportunity to get out and walk during free time. Regarding the conference sessions, Graham kicked-off on Tuesday morning with talks on the limitations of science (2) and the remarkable events of the early Universe (3), followed on Wednesday by a presentation on the fine-tuning and bio-friendliness of the laws that govern the Universe, combined with the story of his own journey of faith (4). Following on, John presented a session entitled ‘We are Stardust’ in which he discussed the origin of life, and the difficulty that science currently has in understanding how it all started (5). In his second session on Thursday morning, ‘There is more to life than the Double Helix’, John discussed human evolution and what it means to be human (6). This was followed by a one-hour slot to give guests (and speakers!) the welcome optional opportunity to receive prayer ministry. The final session was a hour-long Q&A session in the late afternoon on Thursday. This was both a pleasure and a challenge for us speakers, with some piercing questions asked.  Questions and Answers on Thursday afternoon. As mentioned earlier, after the efforts of the mornings, guests are free in the afternoons to enjoy the delights of the Lee Abbey Estate and the adjoining Valley of Rocks, followed by entertainment in the evening. However, additional activities were also arranged by speakers or community. Another attribute of the Lee Abbey Estate is that it is a working farm, and on Tuesday afternoon guest were invited to visit the Lee Abbey farm by Estate Manager Simon Gibson. Later that afternoon, guests were also invited to attend an optional interactive work shop ‘DNA & Genetics: what’s Ethics got to do with it?’, led by John who has significant expertise and experience of this topic.  John, in his cool sun glasses, leading a geology walk on Wednesday afternoon  One 'find' on the walk was a slab of rock by the roadside, which shows the undulating surface of an ancient sandy beach. On Wednesday afternoon John offered a walk to see the local flora, fauna and geology of the Estate and the Valley of Rocks and he was appreciative of the able assistance in this of a guest, Prof Tony Hurford, who is a professional geologist. Wednesday afternoon also saw an entertaining presentation in the late afternoon by Dave Hopwood on Film and Faith. Graham, John and Liz were able to sell several copies of our respective publications during the week, and on Thursday afternoon offered a book signing event prior to the Q&A session.  John, Graham and Liz at book signing time. Thank you to all who booked in and made the experience so enjoyable and worthwhile.
Graham Swinerd Southampton, UK John Bryant Topsham, Devon, UK October 2025 Picture credits: All pictures were taken by Graham or Marion Swinerd, unless indicated otherwise. Postscript: Graham and John have been offered a week at Lee Abbey in the Spring of 2027 to run another science & faith conference. Our response to this kind offer has been along the lines of ‘we will do it, God willing!’, given our advancing years. We will seriously consider the offer, but the current conference may have been the last time …? (1) Elizabeth Cole, God’s Cosmic Cookbook: your complete guide to making a Universe, Hodder & Stoughton, 2023. (2) Graham Swinerd and John Bryant, From the Big Bang to Biology: where is God?, Kindle Direct Publishing, November 2020, Chapter 2. (3) Ibid., Chapter 3. (4) Ibid., Chapter 4. (5) Ibid., Chapter 5. (6) Ibid., Chapter 6. John writes ...  Science sometimes comes up with results which are puzzling and/or difficult to fit into current understanding. Many years ago, early in my career, one of my PhD students was doing research on tobacco mosaic virus, which like the virus which causes COVID, has a genome made of RNA and not DNA. Thus, we expected infected plants to express a virus gene encoding an enzyme which copies RNA into RNA (so that the virus genome is replicated in the infected plant). This expectation was fulfilled but very puzzlingly, there were two such enzymes, not one, with the second one being present in uninfected plants. The latter fact means that it was encoded in the plant’s genome, not the virus’s. We checked and double-checked but the result was still clear: plants had an enzyme which copied RNA into RNA but why they did was a complete mystery. Our paper attracted some attention but then was quietly forgotten. In my recent blog post, I wrote about types of RNA that cells synthesise as part of a process to get rid of unwanted messenger RNA molecules* that are no longer needed. One of these regulatory RNAs, anti-sense RNA was discovered about ten years after we discovered our mysterious enzyme. We now know that our ‘orphan enzyme’ has a major role in the synthesis of anti-sense RNA, although the discoverers of the latter were actually credited with discovering the enzyme. It was several years later, in a conversation between me and one of the leaders of the anti-sense research group, that it was recognised that our discovery was indeed the enzyme that made anti-sense RNA and it was a pity that our paper had not gained as much attention as it should have done. But, hey, that’s science and my research group has been very happy in making significant contributions to our understanding the control of the replication of DNA genomes (including the discovery of another pivotal enzyme).
* See pages 115 – 121 in the book if you need to know more about messenger RNA. John Bryant Topsham, Devon October 2025 John writes ...  First, some cool science. I am sure that all our readers are familiar with the central facts of molecular biology, namely that genes are copied into molecules called messenger RNA (mRNA) and that the code in mRNA is translated by the cell in order to make proteins (see pages 115-121 in the book). You will also be aware that genes can be switched on and off, so that for example, when a particular protein is no longer required, the gene that encodes it is switched off. But there is a problem: many mRNA molecules are fairly stable; they remain in the cell after the relevant gene is switched off and thus, the now unwanted protein can still be synthesised. However, mechanisms have evolved to deal with this problem. Cells are able to synthesise various different types of RNA which are complementary to part of the sequence of the relevant mRNA, thus base-pairing with it, forming a short section of double helix in the mRNA. This inhibits the mRNA from being translated and marks it for de-activation and/or degradation. Different genes make use of different types of these inhibitory RNAs; the type I want to focus on here is microRNA. Please keep this in the back of your mind for recalling later in this blog post. Huntington’s Disease. Huntington’s Disease is a very distressing neurodegenerative condition caused by a dominant mutation in the HTT gene that encodes an essential brain protein called huntingtin (Htt). The mutant protein does not function properly; it accumulates in neurons and eventually causes death of neuronal cells. Because the mutation is dominant, the offspring of anyone with the gene have a 50% probability of having the condition. Further, as the gene is passed down the generations, so the age of onset becomes earlier. For example, I once met a man in his mid-30s who was already showing signs of the disease. The way the disease develops has been described as a combination of motor neurone disease, Parkinson’s disease and dementia. Personality and behavioural changes often occur in the early stages, as exemplified in a conversation I had several years ago (at Lee Abbey in fact) with a woman whose husband was becoming increasingly verbally aggressive and angry as the disease started to take hold.  A representation of the structure or huntingtin from Kim, M.W. et al., Structure Vol. 17, pp 1205–1212 (2009). At any one time in the UK, there are about 6,700 people at various stages of progression of the disease which equates to about one sufferer in every 8,065 people. That may not seem many but for individual patients and their families that is irrelevant. The degree of suffering they experience is immense and it matters not how many or how few other sufferers there are. But there is hope, as I discuss in the next section. A cure for Huntington’s Disease? Yes: in the past two days (I am writing on September 25th) there has been an amazing announcement, followed by appropriate commentary, that a cure has indeed been developed. The key players in this work are a research team at University College Hospital, London, led by Professors Ed Wild and Sarah Tabrizi, in collaboration with uniQure NV, a Dutch pharmaceutical company that focuses on gene therapy.  Professor Ed Wild and Professor Sarah Tabrizi. Photo by Fergus Walsh/BBC. So, how did the team develop a cure? Is it possible to inactivate the mutant gene whilst leaving the normal gene working properly? Yes it is, but not in a way which works directly with genes at the level of DNA. Referring back to the first paragraph, the sequences of the mutant and normal messenger RNAs are different enough to allow the research team to make a microRNA that is specific for the mutant message. In other words, it is possible to specifically target the mutant mRNA for inactivation/degradation. The next challenge is to deliver a consistent supply of the microRNA to a patient’s brain cells. This challenge was met by a ‘slice’ of pure genius. A tiny gene, a very short piece of DNA encoding the microRNA, was synthesised and inserted into a benign virus which was infused into the brains of the 29 people taking part in the trial. That process in itself was very complex, as described in the BBC’s report on this work (Huntington’s disease successfully treated for the first time) and brought about what was, in effect, genetic modification of the brain cells enabling them to make their own supply of the microRNA.  The microRNA/gene therapy method used to combat Huntington’s disease. Credit: BBC Research. Three years on from this procedure, the results for patients have been remarkable. Disease progression has been slowed by 75% while death and loss of brain cells have been dramatically reduced. Patients who expected to be in wheelchairs are still able to walk and one who had retired on health grounds has been able to return to work. Whilst this not a complete cure, it is still an amazing result and holds out hope that with a bit of tweaking, that 75% may be improved on. It also raises hopes for people who know they have the mutant gene but who are not yet showing symptoms, exemplified by Jack May-Davis who featured in the BBC report. He is 30 years old but recalls that his father first showed symptoms when he was in his late 30s and died at the age of 57. Having been one of the 29 taking part in the trial, Jack stated that this "breakthrough has left him overwhelmed" and that he can envisage a future that "seems a little bit brighter, it does allow me to think my life could be that much longer".  Brain scans of, on the left, a healthy person and on the right, a person with advanced Huntington’s disease. The loss of brain matter caused by the death and degradation of brain cells is very clear. Credit: University College Hospital, London.  Jack May-Davis. Photo by Fergus Walsh/BBC. Epilogue. I am thrilled by this work for two reasons. Firstly of course, because it brings hope to those who have the mutant Huntington’s gene, whether or not they have yet developed symptoms. Secondly, I am thrilled because this is a brilliant use of good science in the service of humankind. The various inhibitory RNAs, of which microRNAs are one type, are relatively recent additions to our knowledge of how genes work. That knowledge was acquired by curiosity-driven research on gene expression as scientists worked, without any ‘commercial’ or ‘applied’ agenda, to reach a greater understanding of the fundamentals of molecular biology. Postscript.
As I wrote this post, it was clear that this news had gained a large amount of attention, with reports appearing across a wide range of print, broadcast and digital media. This even involved me because shortly after I started writing, I was invited (and accepted the invitation) to give an interview about the work on Trans-World Radio (UK). John Bryant Topsham, Devon September 2025  Credit: Alamy. Graham writes … I mused long and hard about what to write about this month, and then I saw an interesting article in Nature on this, a very intriguing topic. The article, by a senior reporter for Nature Elizabeth Gibney (1), tries to analyse the results of a recent survey of quantum mechanics (QM) practitioners and theorists on whether QM tells us anything about the nature of the subatomic world that it is used to investigate. At a recent event to commemorate the 100th anniversary of the theory, eminent specialists in the field came together to argue about the issues. To gain an insight into how the wider community interprets quantum physics in its centenary year, Nature carried out a survey on the subject. They emailed more than 15,000 researchers whose recent papers involved quantum mechanics, and also invited attendees of the Centenary Meeting, held on the German island of Heligoland, to take the survey. The 1100 or so responses they received showed how widely researchers vary in their understanding of the most fundamental features of quantum theory and experiments.  Credit: CRC Press. My own association with QM began in 1971 – only 46 years after its inception – as an undergraduate student. The Institution in which I studied mathematical physics had a research focus on QM topics, with the consequence that we undergrads got rather a lot of QM-related teaching in our course. My scientifically immature attitude to QM at the time was that it seemed to be a very successful theory in terms of predicting the outcome of experiments, but intuitively it made no sense. I guess everything else that I had encountered in my studies up to that point stemmed from classical physics, which did make sense of the underlying reality of the classical world – of which people are of course a part. This came as a bit of a shock, and the issue arose about how to cope with QM to achieve a pass in my final exams! A typical pragmatic approach for an undergraduate student …? I decided that I would simply use quantum theory without engaging with what it means — the ‘shut up and calculate’ approach (or more formally, an epistemic approach). As a consequence, I ultimately developed a dislike of QM, tending to believe that there was an underlying reality in the quantum world that the existing theory was not able to reveal. A result of all this was that when I began my in PhD studies in 1972 I had decided that I would not engage with QM – instead I embarked on an enjoyable three years of research on the topic of Einstein’s theory of gravity (his general theory of relativity) which is inherently a classical theory.  Credit: izquotes.com. It's interesting to note that Einstein had a similar attitude to QM that I had unknowingly adopted as an undergraduate (it is also fair to say that we had very different motivations!). Despite the fact that he was one of the originators of QM, Einstein became troubled by what he perceived as an incomplete picture of reality that QM presented. All of his criticisms of the theory throughout his life stemmed from the notion that he believed that there was an underlying reality that was sciences’ job to uncover. However, despite Einstein’s misgivings, it is undeniable that the mathematics of QM work beautifully, as witnessed by its successful application in the development of many recent technologies, such as nuclear engineering, medical imaging, computer chip manufacture and, indeed, the relatively new science of quantum computing. It has also provided the most accurate predictions of the outcome of experiments of any physical theory (see for example the discussion of the ‘muon g-2 experiment’ in the blog post of March 2022 – to see this, click the date on the archive list on the right hand side of the screen). So, should it just be regarded as an epistemic theory which tells us little about the nature of reality? This is one of the many questions posed to experts in the recent survey.  Schrödinger's wave equation is the pillar of contemporary quantum mechanics. But before we get into that, let’s take a brief look at how QM theory works. The most common approach is the so-called Copenhagen Interpretation which could be regarded as the standard “textbook” view. This was developed by Niels Bohr and Werner Heisenberg in the 1920s, and is named after the university at which they did their seminal work. Other eminent physicists also played a major role in this endeavour, in particular the German physicist Erwin Schrödinger, who developed his wave equation which is central to QM theory. An object’s behaviour is characterized by its wavefunction, which is a mathematical expression calculated using Schrödinger’s equation. The wavefunction describes a quantum state (the particles’s position or spin, for example) and how it evolves as a cloud of probabilities. As long as it remains unobserved, a particle seems to spread out like a wave, interfering with itself and other particles. According to this interpretation, a quantum particle exists in a fuzzy state of many possibilities until a measurement is made. Only when you look – through an experiment or observation – does the wavefunction ‘collapse’ into a definite outcome. However, the issue of what counts as a ‘measurement’, and why the act of observation should change reality has long been discussed by physicists. In the survey, the Copenhagen Interpretation was the most popular preference, comprising 18% of experts who were confident or fairly confident in making their choice.  The pioneers of QM: Niels Bohr, Erwin Schrödinger and Werner Heisenberg. Credit: Public Domain. Another approach is the Many-Worlds Interpretation, introduced by American physicist Hugh Everett III in 1957, and this got rid of wavefunction collapse issue altogether. Instead, every time a quantum choice is made, the universe splits. In one world, the particle is here and in another it is there. Both outcomes are real, but we only experience one branch of the ever-multiplying multiverse. I don’t know what you might think of this, but I have always considered it to be totally crazy – but nevertheless it was favoured by 8% (confident or fairly confident) of the survey respondents. To give an impression of the diversity of opinions about QM theory among the practitioners and theorists, 9 interpretation options were offered in the survey (I have only discussed three of them for the sake of brevity), and in some instances equal numbers of respondents took diametrically opposing views, showing how widely researchers vary in their understanding of the most fundamental features of quantum mechanics. Interestingly 10% of respondents agreed with me and opted for the epistemic (information-based) approach. I think if you asked many of the physicists attending the Centenary Meeting if QM was wrong, most of them would say something like ‘it’s incomplete’. From what we have said, I think this is reasonable as there is certainly something of value in the theory. However, some scientists are rather more outspoken. In this latter group I would include Roger Penrose, an eminent theoretical physicist and professor Emeritus at Oxford University, and Lee Smolin, an American physicist with associations with Yale and Pennsylvania State Universities and co-founder of the innovative Perimeter Institute of Theoretical Physics at Waterloo, Canada. In their writings (2), (3) (4), they have both been unequivocal in their opinions that the current theory is simply wrong. But then, at the end of the day, why is this important?  Einstein's theory of gravity is very different from Newton's vision. In Einstein's theory mass and energy tell space and time how to curve and the curvature of space and time tell mass and energy how to move. Credit: Veritasnewspaper.org. The key to answering this question is the fact that there are currently two main pillars of modern physics – quantum mechanics (the theory of the very small) and Einstein’s theory of gravity (general relativity – the theory of the very large). Both of these theories were launched during an amazingly productive decade of the twentieth century from 1915 to 1925. Both theories have stood the test of time remarkably well. However, all attempts to unify them into a ‘theory of everything’ – a theory of quantum gravity have so far failed. So, when we look at problems where the domains of the two theories overlap – such as at the initial instant of the Big Bang, or at the centre of a black hole where gravity and quantum effects are both very relevant – we do not have a theory to describe what is happening. And this is not just a recent problem. The physics community have been struggling with this for a century – and efforts continue. But what if Penrose and Smolin (and others I’ve not mentioned) are right in their belief that QM is wrong. Then our efforts at unification are doomed.
So at the end of the day we have a quantum theory that doesn’t say very much that the experts can agree upon about the underlying reality of the world of molecules, atoms and elementary particles. And that the current version of QM may be an inappropriate starting point for the process of unification. Recently I heard, or read, a quote from someone – I can’t remember who – ‘Maybe we should give up on the process of trying to quantise gravity, and try gravitising quantum mechanics instead’. I’m actually not sure what they meant by ‘gravitising’, but I understand and appreciate the sentiment. Graham Swinerd Southampton, UK August 2025 (1) Elizabeth Gibney, Nature, Vol. 643, pp. 1175-1179, 31 July 2025. (2)* Roger Penrose, Fashion, Faith and Fantasy in the new physics of the Universe, Princeton University Press, 2016. (3) Lee Smolin, The Trouble with Physics, Penguin Books, 2006. (4) Lee Smolin, Einstein’s Unfinished Revolution: the search for what lies beyond the quantum, Penguin Books, 2019. * Warning: The publisher’s blurb about this book suggests that the content is suitable for the layperson. It is not. Graham's tribute to Jim Lovell ... The sad news of the passing of Jim Lovell was announced on 7 August 2025. I love this guy – huge achievements, and yet great humility. I have never met him, but from his writings and video interviews he comes over as a very personable and witty man.  Jim Lovell. Credit: Public Domain His career in the US Navy began in 1952 with his graduation from the US Naval Academy in Annapolis, Maryland, after which he rose to the roles of flight instructor and test pilot. In 1963 he was selected by NASA to participate as an astronaut in the Gemini programme. As the name suggests, this programme involved space flight in a small 2-man capsule, with the objective of learning the operational techiques – especially in-orbit rendezvous – which would enable a successful lunar landing during the follow-on Apollo programme. He flew in December 1965 aboard Gemini 7 with fellow astronaut Frank Borman, which demonstrated the first successful rendezvous (with Gemini 6). He also joined Edwin ‘Buzz’ Aldrin for the final flight of the Gemini series, Gemini 12, in November 1966.
His participation in the Apollo programme began in December 1968 with the first lunar orbit mission. This was a big deal for NASA at the time, as no one had ever flown beyond the bounds of Earth’s gravity before. His command of Apollo 13 two years later made big headlines in April 1970, but unfortunately for all the wrong reasons. His ambition to be a lunar walker was cruelly dashed when the craft’s service module suffered a crippling explosion which ruptured an oxygen tank. The resulting lack of oxygen and power meant that the lunar landing was abandoned, and the crew and the team at mission control had to adopt a great many novel strategies using the lander as a ‘life boat’ to achieve the safe return of the crew (Lovell, Haise and Swigert). Lovell’s involvement in the Apollo 8 mission is often forgotten, overshadowed by his command of Apollo 13. The Apollo 8 mission was the first time that we left ‘cradle Earth’ and went somewhere else (moon orbit in this instance). Also his reading of the opening verses of Genesis from moon orbit on Christmas Eve 1968 - awesome! Lovell remained in NASA, and in 1971 he became a deputy director of the Johnson Space Flight Centre. He retired from the navy and the space programme in 1973 but remained in Houston as a corporation executive until his retirement in 1991. He later moved to Illinois where he opened a successful restaurant in Lake Forest, a city in Lake County, Illinois. God’s speed Jim Lovell – one of three men who have flown to the moon twice, but this one never got to feel lunar dust beneath his boots. Graham Swinerd Southampton August 2025  Credit: Science Photo Library. John writes … Newcastle scores eight! Just over ten years ago, in March 2015, the Human Fertilisation and Embryology Authority (HFEA) authorised the use in clinical practice of a modified version of IVF (The Human Fertilisation and Embryology (Mitochondrial Donation) Regulations 2015). This involves not just an egg and sperm from the prospective parents but also a small – very small – number of genes from a second female. The new regulations came into force in October 2015 and in March 2017, the Newcastle Fertility Centre was the first (and so far, only) fertility clinic authorised to provide treatment based on these regulations.  Figure 1. Newcastle Fertility Centre. Credit: University of Newcastle. Let me explain: nearly all our genes reside in a part of the cell called the nucleus but a small number (about 0.18% of the total) are in a cell compartment called the mitochondrion (plural: mitochondria). The mitochondria are the organelles which carry out ‘energy metabolism’, providing the chemical energy to perform cellular – and hence bodily – functions. Because of the absolutely essential function of mitochondria, mutations in mitochondrial genes have very serious consequences for a baby, ranging from death in infancy to a range of significant impairments. Thus, one of my undergraduate tutees, who had intended to do his final-year project in my lab, became almost completely blind towards the end of his second year. This was because of a mutation in one of his mitochondrial genes. (We were able to provide him with special IT facilities that enabled him to carry out a computer-based bioinformatics project). A key feature of mitochondria is that they are only inherited from the mother and it was this fact that led to the development of the modified form of IVF. In a very clever procedure, a woman has a mitochondrial mutation provides her eggs as in normal IVF but those are manipulated so that they receive healthy mitochondria from an egg donor, as shown in Figure 2 (if you want to know more, please see pp. 51-53 of Introduction to Bioethics, Bryant and la Velle, Wiley, 2019).  Figure 2. Diagrammatic representation of mitochondrial donation. An egg of the prospective mother with faulty mitochondria and the egg of a donor with healthy mitochondria are fertilised to produce zygotes. The egg and sperm nuclei are removed from the donor zygote, leaving in place the healthy mitochondria. The egg and sperm nuclei from the zygote of the prospective mother are transferred into the donated zygote. This constructs a zygote (fertilised egg) containing the nuclear DNA from the prospective parents and the mitochondrial DNA from the donor. Credit: ResearchGate.com via Creative Commons. As a scientist, I can look at the technique and acknowledge that it is brilliant. However, I also need to acknowledge that some commentators raised ethical concerns (see Introduction to Bioethics, mentioned earlier). The first of these concerns came from the tendency of many journalists to call the process ‘Three-parent IVF.’, the implication being that the baby to be born will have a complex genetic inheritance with unclear family boundaries and may therefore be confused about their identity. In fact, this is very far-fetched. The mitochondrial genes transferred from the ‘third person’ control a small number of metabolic processes. They do not contribute genetic information about growth and development, even though mitochondrial processes are essential for growth and development. I think it is best to think of the process as a ‘transplant’ of mitochondria, albeit a transplant that is inherited. This brings us to the second ethical issue. In all the countries where the technology is possible, it is not permitted to change the genetic makeup of a human, whether by genetic modification or by genome editing, in such a way that the genetic change is inherited. Readers will remember the case of the Chinese medical scientist who was sacked because he carried out genome editing on two human embryos which came into the world as babies with a genome-manipulated resistance to HIV. Now, there is absolutely no doubt that mitochondrial donation is a form of genetic modification, albeit a very specialised one, and that the modification is heritable. In 2012-2103 the HFEA carried out a public consultation (to which I responded) on the process and also invited contributions from organisations such as the Wellcome Trust and the Nuffield Council on Bioethics. The general view was that mitochondrial donation was a therapeutic process, leading to an avoidance of serious genetic disease and that an exception to the general rules about heritable genetic change was therefore acceptable. According to this majority view (which I share) there was no danger of starting down a ‘slippery slope’ to heritable genetic enhancement. And so, back to my headline. In its annual report, the key points of which were published by Newcastle University on July 16th this year (Mitochondrial Donation treatment - Press Office - Newcastle University), the Newcastle Fertility Centre states that since 2017, eight babies have been born after IVF involving mitochondrial donation. The report goes on to tell the stories of some of those babies and also presents the reactions of some of the parents – altogether it is a very ‘good news’ account.  Credit: University of Newcastle. Embryos and their genes. Readers of this blog and/or of the books mentioned earlier will be aware that it is possible to carry out specific genetic tests on embryos created by IVF, prior to implanting them into the uterus of a prospective mother. The process is called pre-implantation genetic testing (PGT) and it is used when there is a high chance that the embryo has a genetic variant that will, in life, cause a serious or even fatal condition. Currently, in the UK about 1100 babies are born each year after IVF involving PGT.  Figure 4. Removal of a single cell from an early-stage embryo in order to carry out Pre-implantation Genetic Testing. Credit: Science Photo Library. Many of you reading this will also be aware of the huge advances in whole genome sequencing that have occurred since the Human Genome Project. In that project it took about 12 years to obtain a genome sequence of the ‘average’ human whereas it is now possible to obtain this information for an individual human within a day or even faster if need be. Further, extraction and amplification techniques are now so reliable that genome sequences can be obtained from a very low number of cells. Thus, over the past three years, several genetic/fertility research groups have been able to obtain complete genome sequences from pre-implantation embryos. It is said that in some circumstances in which more than one genetic test needs to be carried out in PGT, it is easier to obtain a complete genome sequence than to do the individual tests – a statement which I still find amazing. Watch this space for further developments. New-born babies and their genes. The previous section, immediately above, indicates how whole genome sequencing has become a routine analytical tool, a situation which has been further exemplified by the announcement by the NHS in June that all new-born babies will have their genomes completely sequenced (NHS plans to DNA test all babies in England to assess disease risk - BBC News). Currently, babies are tested for nine genetic conditions following a ‘heel-prick’ to extract some blood when they are a day or two old. However, in trials initiated last year which involved 100,000 babies and a focus on 200 genetic conditions, the feasibility of whole-genome sequencing for new-borns was put to the test, leading to the recent announcement. Wes Streeting, the current Health Minister, was very positive about the move, stating that it will enable us to ‘leapfrog disease, so we're in front of it rather than reacting to it’ while others have spoken of the ability to ‘revolutionise prevention.’ All this sounds very good but it seems to many us to be over-optimistic. For genes with high levels of penetrance and expressivity (see note below), it is hard to see how the development of the condition can be prevented. The best that can be done is to provide treatments which mitigate the symptoms. At the other end of the scale, for genes with low penetrance and low expressivity, people may go through their lives worrying about something that may not happen. As Professor Frances Flinter (Figure 5) wrote in her blog (Whole Genome Sequencing in newborns: benefits and risks – Nuffield Council on Bioethics) “For a significant number of conditions, … there may be many years of uncertainty and worry until symptoms begin to appear, if at all.” (See also the discussion by Rachel Horton and Anneke Lucassen: Ethical issues raised by new genomic technologies: the case study of newborn genome screening | Cambridge Prisms: Precision Medicine | Cambridge Core).  Figure 5. Professor Frances Flinter. Credit: Nuffield Council on Bioethics. I have asked before, in a different context, whether there is too much emphasis on genetics in medicine (albeit that I am very enthusiastic about DNA and genes). As one GP put it: he can get a better picture of a person’s general health from the post-code of where they live than from their DNA sequence, the implication being that factors such as poor housing and social deprivation are major factors in poor overall health. And thus we wait and watch to see if the optimism expressed by the NHS and Department of Health about the new genome sequencing programme is justified.
Note: Penetrance means the percentage of individuals who carry a particular gene (genotype) actually show the effects of the gene (phenotype). Expressivity means the level at which a gene, if it is switched on, actually works. Both penetrance and expressivity, and especially the latter, can be affected by other genes – which contributes to the uncertainty that I mentioned above. John Bryant Topsham, Devon July 2025 |
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