Kuvan approved for PKU

kuvanBroadcaster: BBC1

Year: 2017

Genre: News package

Duration: 2 minutes 33 seconds

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/101735

This is a brief (two and a half minute) news piece about a patient “S” , who suffers from Phenylketonuria (PKU) and the successful application by his parents for treatment using the drug Kuvan.

PKU is a well-characterised autosomal recessive inborn error of metabolism in which the body cannot appropriately process the amino acid phenylalanine (Phe) dues to mutation in the gene for the enzyme Phenylalanine hydroxylase (PAH), whose role is to convert phenylalanine to tyrosine. Because the genetic basis of PKU is well characterised, it features regularly in introductory courses on biochemistry and/or genetics.

Kuvan, also known as sapropterin, is a pharmaceutical version of tetrahydrobiopterin or BH4, which is an essential cofactor for PAH. Taking Kuvan is essentially increasing the concentration of BH4 in the body and thus promoting the activity of naturally occurring PAH to process more Phe to Try. Since the action of PAH is the rate-limiting step in the degradation of excess phenylalanine, increasing this reaction makes a significant contribution to lowering the concentration of Phe. However, this is not a complete solution, and patients with PKU are sometimes recommended to have a low phenylalanine diet, even if they are on the drug.

This clip could be used in a module teaching about the genetics and biochemistry of PKU. It is also an example of healthcare rationing, the complexities of deciding which medicines should be provided by the NHS. Decisions on the cost effectiveness of drugs is often made by the NICE, the National Institute for Health and Care Excellence (the name evolved, the acronym didn’t!) On this occasion, however, the decision was made by the High Court. Kuvan cost £100 per day, and the hospital treating S had argued it was not warranted on grounds of clinical efficacy. The high court disagreed, stating that the effectiveness of the drug was well established (eg. in this 2007 article from The Lancet).

Background on PKU can be found via this link (same article as liked above)

Some background to the case of S can be found via this link.

 

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Leicester Herbarium (Countryfile)

phh4Broadcaster: BBC One

Year: 2018

Genre: Magazine

Duration: 4 mins

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/117052

Presenter Anita Rani joins citizen scientist in Leicestershire collecting samples for the Leicester Herbarium. As well as the more traditional pressing of specimens, the University now runs Genebank 55, an archive of seeds for potential future use.

Zooming in on the molecules of life

bob audioBroadcaster: Radio 4

Year: 2018

Genre: Radio interview

Duration: 30 mins

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/120946
also available at http://www.bbc.co.uk/programmes/b09r4c8f

Review by Peter Watson

The remit of Radio 4 series The Life Scientific is to “interview the most fascinating and important scientists alive and find out what makes them tick”. It provides a fascinating mix of biography and science and really helps to get behind what drives researchers to study the things that they do.

In a recent edition host Prof Al-Khalili spoke with pioneer of Cryo-Electron Microscopy (Cryo-EM), Dr Richard Henderson, about his life and work. The interview is very timely as Cryo-EM has undergone a revolution of late and Richard Henderson along with Jacques Dubochet and Joachim Frank were awarded the 2017 Nobel Prize for Chemistry for their work on developing Cryo-EM. It also provides a good introduction to the Cryo-EM as a method and offers plenty of history about its development from the early days to the present cutting edge.

As ever, the program started with an exploration of Richard’s early life and education. He describes growing up in the Scottish Borders spending his time in the outdoors exploring and cycling. What comes across strongly is not that Richard Henderson had a clear idea from an early age what he wanted to do but that he enjoyed school and placed great value on his education. After school Richard studied Physics as an undergraduate in Edinburgh and then moved to the MRC Laboratory of Molecular Biology (MRC LMB) in Cambridge in 1973 to study for his PhD. Continue reading

Biomarkers for autism diagnosis?

autismBroadcaster: BBC1

Year: 2018

Genre: Studio interview

Duration: 6 minutes

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/120039

A six minute interview on BBC Breakfast (19th February 2018) was prompted by the publication of a research article which claims to have identified specific combinations of molecular markers which can speed up the clinical diagnosis of autism. The conversation is an interesting insight into the potential of new techniques for rapid diagnosis of diseases, about experimental design and about experts in different disciplines working together.

Breakfast presenters Dan Walker and Louise Minchin are joined by Dr Naila Rabbani from the University of Warwick, who headed up the research, and Dr James Cusack, Director of Science at Autistica, the UK’s leading autism research charity.  Continue reading

The Hunt (1): The hardest challenge

croc1Broadcaster: BBC One

Year: 2015

Genre: Documentary

Duration: 60 mins

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/120460

Review by Tamara Ozog and Chris Willmott

When you think of predator–prey relationships, the first image that springs to mind is often that of a big cat chasing some kind of  antelope before dragging it to the ground. It is perhaps no surprise therefore, that this first episode of the BBC series The Hunt starts and finishes with a chase of that kind, specifically a leopard tracking an impala, and a cheetah hunting a gazelle.

The real value of this programme, however, is that it doesn’t simply settle for those stories and includes a variety of different predator-prey encounters. In total the programme features nine sections, eight describing different sorts of interactions and, as is increasingly common with wildlife programmes, a final section on how they went about capturing some of the footage featured earlier.

The hunts covered include: Continue reading

John Burn and the genetics of cancer (The Life Scientific)

bob audioBroadcaster: Radio 4

Year: 2018

Genre: Conversation about science and working as a scientist

Duration: 28 minutes

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/120149
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

Egg Freezing (The One Show)

eggfreezeBroadcaster: BBC1

Year: 2017

Genre: Magazine

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/102279

On 24th August 2017, the BBC’s prime time popular interest programme The One Show included a short piece in egg freezing. This clip starts with a cheesy connection to Queen Victoria’s fertility (Jenna Coleman was in the studio to promote the new series in which she plays the monarch) but is followed by an interesting package (4 mins 40 seconds duration) in which 37 year old Dr Zoe Williams examines the possibility of having her eggs frozen. In keeping with many other women, Williams argues that she hasn’t started a family as she is still waiting to find the “right man” a notion she describes as “social infertility”.  Continue reading

Quarantine: a case study

venningBroadcaster: BBC2

Year: 2017

Genre: Sport commentary, discussion

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/101715

During the 2017 World Athletics Championships in London an outbreak of norovirus amongst the competitors raised an interesting case study regarding the rights and wrongs of quarantine.

On Monday 7th August, Botswana sprinter Isaac Makwala withdrew from the 200 metres heats citing illness. The following day he turned up at the stadium to compete in the 400 metres final, to find that his accreditation had been revoked on the grounds that he was still within the time period when he needed to be in isolation to avoid infecting other people.

A confusing evening of claim and counterclaim culminated in Pam Venning, Head of Medicine for the IAAF, appearing in the stadium studio being grilled by host Gabby Logan and former athletes Paula Radcliffe, Denise Lewis and Michael Johnson about the decision to ban Makwala (and the way that communication had been handled).

This clip (just over 15 minutes) could be a useful resource for examining the tensions between personal autonomy and public health in the context of infectious diseases. As Onora O’Neill notes in her book Autonomy and Trust in Bioethics, restricting the movement of someone on grounds that they are a potential health risk to others is one of the classic examples that personal autonomy is not a universal right in the way that is sometimes portrayed.

Whilst Dr Venning outlines the epidemiological rationale for keeping infected athletes, including Makwala, away from the other competitors, the former athletes in the studio display their empathy for the sprinter; he’s been training for this, he says he’s ok today, so why can’t he compete?

A news item about the case (broadcast on BBC1 at about the same time as the studio discussion above) can be reached via this link https://learningonscreen.ac.uk/ondemand/index.php/clip/101736

If you have longer to get into the issues associated with quarantine, I recommend the Belgian series Cordon or, if you can’t cope with the sub-titles in the original, with the inferior American copy Containment.

Should you complete a course of antibiotics?

flemingBroadcaster: BBC1 & Sky News

Year: 2017

Genre: News package

URLs:
(1) https://learningonscreen.ac.uk/ondemand/index.php/clip/101304
(2) https://learningonscreen.ac.uk/ondemand/index.php/clip/101301

Should you complete a course of antibiotics or stop taking them as soon as you feel better? Received wisdom, and current policy, is that you ought to continue the course to ensure that the bacteria causing the problem have been eliminated. However, a new paper The antibiotic course has had its day in the British Medical Journal argues that there is no evidence base for the existing practice and, given the known correlation between exposure to antibiotics and the development of resistance, we ought – as a bare minimum – to be conducting appropriately-controlled trials to examine the impacts (good or bad) of recommending shorter treatment regimes.

The paper received a variety of coverage in both the print and broadcast media. The two links here are to discussion of the work on the BBC Six O’clock News (1, 2.2 mins) and Sky News (2, 2.4 mins). Both clips have their own merits, but if you want to pick one then, on this occasion, I’d go with the Sky News clip. Both packages include historical footage of Alexander Fleming, but the Sky piece has more thorough explanation of the arguments.

For further coverage see my Journal of the Left-Handed Biochemist post on the paper, and this article from the Daily Telegraph.

IVF for rhino conservation?

rhino1Broadcaster: BBC News

Year: 2017

Genre: (1) News package, (2) Interview

URLs:
(1) https://learningonscreen.ac.uk/ondemand/index.php/clip/101093
(2) https://learningonscreen.ac.uk/ondemand/index.php/clip/101088

Clip 1 (3 minutes) is a piece by Rebecca Morelle about plans to use IVF to try and save the Northern White Rhino of which there are believed to be only three specimens remaining. At the Longleat Safari Park in Wiltshire (UK), scientists are trying to pioneer rhino IVF as a mechanism for conserving the species. The less rare Southern Rhino is being used as a test model whilst developing the technique and could potentially be a surrogate mother for a Northern White Rhino baby or a hybrid between the two species. The package was shown in several news bulletins, this clip is actually taken from World News on BBC4.

Clip 2 (5.5 mins) from BBC Breakfast begins with a synopsis of the original piece, before a longer interview with Jon Merrington, heading up the project at Longleat. This interview was very helpful in explaining more of the plans and elaborating on the complications. For example, eggs to be harvested are located 1.5 metres within a female rhino, and gestation is 16-18 months. The remaining Northern Rhinos are an elderly male and two younger females, none of whom are capable of reproduction themselves.