Broadcaster: Radio 4
Genre: Conversation about science and working as a scientist
Duration: 28 minutes
and on iPlayer at http://www.bbc.co.uk/programmes/b09rxr3t
The Life Scientific is a regular series on Radio 4, in which Physicist Jim Al-Khalili (and regular media contributor) talks to other leading scientists about their work. It is always an interesting listen because it peels away the false impression that science is a coldly calculated process to reveal some of the human experience involved in conducting research.
In February 2018, Prof Al-Khalili spoke with clinical geneticist Sir John Burn about his life and work. Prof Burn manages to juggle a number of roles; he is Professor of Clinical Genetics at Newcastle University, where he combines basic science research at the Life Science Centre, a ground-breaking research institute he co-founded, with clinical work at Newcastle Hospitals NHS Foundation Trust. He is also the Genetics Lead for the UK National Institute of Health Research and chairs spin-out company QuantuMDx, which is developing bedside DNA testing kits that could offer diagnosis in a matter of minutes.
There were many aspects of this episode that make listening to it half an hour well spent for any student of molecular bioscience. In particular, the programme gives a beautiful insight into the impact that genetics and DNA sequencing is playing in contemporary medicine (and the bigger role yet to come). Burn has been a pioneer of genetic testing in medicine and an enthusiast for benefits of routine genomic testing to facilitate personalised medicine (see, for example, his 2013 British Medical Journal article Should we sequence everyone’s genome? Yes). Continue reading
Broadcaster: Channel 4
Length: 3:16 mins
When an infant has an illness that will, in all probabilities, prove fatal their parents face an agonising choice. Do you follow all possible interventions, or do you reach a point where you recognise that it is in the best interests of the child to withdraw treatment?
This dilemma is brought into stark relief by Charlie Gard who, at the time of writing, is the subject of a High Court case at the Royal Courts of Justice. There are several aspects that make this case particularly tricky, and particularly interesting from a medical ethics standpoint.
Charlie was born in August 2016 with a rare mitochondrial DNA depletion syndrome. He is deaf and blind, it is tricky to know how much pain he is aware of at present. Doctors at Great Ormond Street Hospital want to move to a regime of palliative care only. A crowdfunding project has raised over a million pounds parents and his parents want to take Charlie to the USA where a doctor is willing to enrol him on a trial of nucleoside bypass therapy, an experimental treatment which has an extremely low probability of alleviating some of his symptoms. He will almost certainly still die.
The case shines a spotlight on different medical culture in the UK and the USA. In the UK doctors tend to take a more cautious approach whereas doctors in America are more willing to try experimental procedures if the patient (or in this case, their parents) want to try and have the money to do so.
For further coverage of the case see: The Guardian and ITV News and a later report from the BBC.
Watson and Crick discuss whether to tell Maurice Wilkins and Rosalind Franklin about their research
(originally broadcast 1987 on BBC2)
In the late 1980s, Horizon, the BBC’s flagship science series, took the unusual step of producing a feature length retelling of the events of 1951-52 leading to James Watson and Francis Crick solving the structure of DNA.
Inspired by Watson’s memoir The Double Helix, and with a screenplay by William Nicholson (who later went on to write the script for Gladiator), the production starred Jeff Goldblum as Watson, Tim Pigott-Smith as Crick and Juliet Stevenson as Rosalind Franklin.
A colleague recommends that students watch this on their own as a “flipped teaching” exercise prior to more academic sessions on DNA structure.
The film is known in the USA as “The race for the double helix” and is listed on IMDB under that name. The most recent transmission of this programme pre-dates Box of Broadcasts, and this copy is uploaded from a VHS copy. In consequence, the quality is sub-optimal, but clear enough.
Broadcaster: BBC Radio 4
Review by Emma Sterling
“Circadian rhythms are a biological version of a clock inside humans and all other animals, plants and quite possibly in almost every living cell…These rhythms are a response to the most predictable condition of life on earth, that is, dark at night and bright during the day.”
“Circadian rhythms are one of the best examples of how genes relate to behaviour.”
In this episode of his series In Our Time (41 minutes), Melvyn Bragg talks with Professors Russell Foster, Debra Skene and Steve Jones about circadian rhythms, what they are and how they affect behaviour in humans and other organisms.
The programme includes a brief explanation about the subcellular process involved in circadian rhythms. In humans this takes place in what is described as the ‘master pacemaker’, formally known as the suprachiasmatic nuclei (SCN). This is a group of 50,000 cells located in the hypothalamus that are essential for producing the rhythm. Approximately 12-14 genes and their protein products are involved in the molecular feedback loop with an oscillation of approximately 24 hrs. In some individuals these oscillations are slightly longer, in others slightly less. These differences can affect whether that person is a morning or evening person. Other factors that can affect these oscillations include polymorphisms in the genes that control this process, and external factors such as food, drink and caffeine but none of the aforementioned are as important as light. Continue reading
The specialist “embryo flushing” team can implant up to 1500 surrogates in a year.
Broadcaster: BBC 1
Genre: Documentary, Magazine
A seven-minute clip from the popular BBC rural affairs programme Countryfile, looking at “embryo flushing” a modern IVF-based method that is replacing traditional selective breeding on many farms.
Embryos are removed from a pedigree cow using a saline flush and she is later fertilised by a bull in the traditional manner. The quality of the harvested embryos can be examined at the on-farm laboratory and the best placed into other non-pedigree cows. In this way it becomes possible for the cow with desirable characteristics to be the biological mother of perhaps six calves at one time. As the technique gains in popularity, the specialist can transfer as many as 1500 embryos in a year.
Other applications of this approach include being able to breed using the best genetic stock from around the world, and allowing for deep freezing of embryos as a safeguard against some catastrophic outbreak. The approach was recently used to re-introduce 100 long-horn cattle into Australia.
Sophie has cystic fibrosis. Gene therapy might free her from a rigorous daily routine
Broadcaster: BBC 2
Review by Amy Evans
“Picture a world where cancer was cured by a packet of pills”. Miracle cure, an episode of the BBC Horizon series, looks at the promises and hopes to come following the sequencing of the human genome and how, a decade on from the initial publication of the complete sequence, the information gained from the mammoth effort has been helpful. This is a good program for anyone interested in the human genome project, the growing “genomics” field and bioethics.
This program follows three people, each with a different genetic condition, in order to find what genomic might mean for them; Sophie has cystic fibrosis, Emma had cancer and Tom is an alcoholic. It is interesting that they included addictions, such as alcoholism, since this is a more controversial condition, which not many people would think as having a genetic component.
A strength of this programme is the emphasis placed on the interaction of these genes with the environment in developing these conditions. On the down side, they don’t mention epigenetics which would have be interesting (I suspect if it was made now, they would have included this). They also do not go into much detail about the specific genetics of the conditions. However the key topics covered are is given but it covers key topics:
Gene therapy: http://bobnational.net/record/291933 (16 minutes; this clip is spliced from three sections on gene therapy). It is interesting to hear how well the gene therapy trials progressed after the release of the human genome sequence and this section touches on the ethics of ‘playing God’ in gene therapy. Sophie meets Rhys Evans who was an early recipient of gene therapy for CF. She also visits scientists looking at gene delivery.
For more information on gene therapy and cystic fibrosis follow this link. Continue reading
4 celebrities volunteered to undergo genetic tests.
Genre: Popular science, documentary
A look at the potential for genetic testing to reveal disease risks. A detailed description of this programme is available over at our sister site Bioethicsbytes. This programme pre-dated the establishment of 23andMe, but many of the issues raised here overlap with more recent testing services.