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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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

Anyone for Gene Editing? (Panorama)

panoramageneediting1Broadcaster: BBC1

Year: 2016

Genre: Documentary

URL: http://bobnational.net/record/421686

In June 2016, BBC current affairs programme Panorama conducted a whistle-stop tour around potential applications of CRISPR, the emerging gene editing technology.

In Medicine’s Big Breakthrough… Editing Your Genes (30 mins), Fergus Walsh talks to a number of key players in the field. These include Jennifer Doudna, credited as one of the co-creators of CRISPR as an editing took, George Church who is looking to humanise pig organs to reduce the likelihood of rejection, and Fyodor Urnov (from Sangamo Biosciences) who is trying to use the technology to tackle diseases such as AIDS and haemophilia. Alison van Eenennaam discusses genetic approaches to making horn-less cattle (which, she argues, is more humane than the current methods for removing existing horns). Walsh also visits biohacking entrepreneur Josiah Zayner, and Kathy Niakan from the Crick Institute who has the UK’s first licence to use CRISPR with human embryos.

The video is good at raising ethical as well as scientific questions. I can see this episode either serving as a very nice introduction to the topic, which students could be asked to watch before a face-to-face teaching session, or alternatively one or more of the vignettes could be used as illustrative clip(s) within a lecture.

A transcript of the programme is available via this link.

transcript from programme

There are a several introductory videos about CRISPR on YouTube. These include one produced by The Royal Society, available via this link. It starts from quite a low level, and so is probably most applicable for a school audience. A second, longer, video produced by Kurzgesagt (German for “in a nutshell”) is available via this link.

Meeting the demand for meat

Year: 2016

Broadcaster: BBC 1

Genre: Documentary

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/86970

Full original programme URL: https://learningonscreen.ac.uk/ondemand/index.php/prog/0B9E458F?bcast=121120092

Review by June Adams

The current worldwide demand for meat is huge, and growing faster than production rates can keep up with. How will we stop our commercial supply of meat from running out?

One way that farmers have tried to tackle the beef shortage is by producing cows that give more meat.  Belgian blues are a type of cow that has been specially bred to have 20% more muscle than the average cow, equating to 900 more quarter pounders. They can be reared to weigh up to one tonne! However, the extreme looking breed is controversial and difficult to farm. Belgian blue cows are unable to give birth naturally, and the calves often suffer from joint and heart problems. Is there a way to increase meat production without overburdening livestock?

In this five minute clip from the series Tomorrow’s Food, Professor Mark Post has managed to grow a burger in a lab by extracting stem cells from a tiny piece of meat, which then multiplied for 8 weeks in an incubator to make new muscle tissue. It takes 30 billion cells to make a single burger. The process is faster and may require less energy than rearing a whole cow, but it produces a very small amount of meat that costs a lot; a lab-grown burger costs over $200,000. In order to reduce costs to make the process viable on the market, production would need to be scaled up drastically – Olympic swimming pool sized incubation tanks! With some work, hopefully lab-grown burgers will become cheap enough to be sold commercially in less than 10 years.

World’s first lab-grown burger is eaten in London (5th August 2013) http://www.bbc.co.uk/news/science-environment-23576143

Is interfering with genes ethical? (The Big Questions)

TBQ - Crispr

Front row, left to right: Keith Fox, Jackie Leach Scully, Tony Juniper, David King, Trevor Stammers, Rabbi Laura Janner-Klausner, Jonathan Montgomery, Silvia Camporesi, Virginia Bolton, Ruth Stirton and David Wood. Steve Storey is on the extreme right-hand side of the second row.

Broadcaster: BBC2

Year: 2017

Genre: Debate, Factual

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/99294

On 11th June 2017, the final episode of the BBC’s ethical debate series The Big Questions was given over to a full hour’s discussion on the theme “Is interfering with genes ethical?”

As readers may know, this is an important and timely discussion. The emergence of CRISPR gene editing technology over the past three years has, for the first time, made it feasible to alter genes in situ and raises the potential/spectre (delete as applicable) of genuinely designer babies.

An impressive cast of bioethicists had been assembled to lead the debate (see caption of photo, above). A number of interesting and relevant points were raised. Despite the longer allocation of time, however, there was still a frustrating lack of depth on the topic. The focus was allowed to drift far too wide, embracing cryogenic preservation at one end of the spectrum and GM crops at the other. A moving account of the treatment of Steven Storey with his own stem cells was also not really on topic.

A full transcript of the episode is available via this link

transcript from programme

For a list of older episodes of The Big Questions on bioethical themes see this link at our sister site Bioethicsbytes.

GM tomatoes and goats: breakthroughs and setbacks (Tomorrow’s Food)

Year: 2016

Broadcaster: BBC 1

Genre: Documentary

Length: 6:53 mins

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/86972

URL full original programme (60 mins):  https://learningonscreen.ac.uk/ondemand/index.php/prog/0B9E458F

Review by June Adams

At the John Innes Centre in Norwich, a genetically modified “supertomato” has been produced which could help make us all healthier. Using genes from snapdragons, Professor Cathie Martin has genetically modified tomatoes to produce anthocyanins, making them appear bright purple. Anthocyanins are pigment compounds naturally produced in many plants, and in our diets are thought to help reduce the risk of heart disease, stroke, and even cancer. Tomatoes were chosen to host these genes because they are the most consumed fruit in the word, are added as an ingredient to many other foods, and are accessible to people on a low income. Continue reading

Life Story: Solving the structure of DNA

lifestory

Watson and Crick discuss whether to tell Maurice Wilkins and Rosalind Franklin about their research

Broadcaster: BBC4

Year: 2004
(originally broadcast 1987 on BBC2)

Genre: Dramatisation

Length: 01:46:24

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/30025
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.

Certification System for Genetic Testing (Science View)

genetestnhkBroadcaster: NHK World

Year: 2017
(originally broadcast Aug 2015)

Genre: News

Length: 1:45

URL: https://learningonscreen.ac.uk/ondemand/index.php/clip/85837

Review by June Adams

This short clip from the English-speaking Japanese channel announces the introduction of a regulatory body for genetic testing in Japan. Establishment of The Council for Protection of Individual Genetic Information (CPIGI) was prompted by a number of concerns. For example, companies offering tests Direct-to Consumer (DTC) genetic testing have not necessarily given sufficient diligence to the security of private genetic information, or to the interpretation of the results. This is especially true for diseases that result from the interaction of multiple gene products as well as the influence of environment on expression of those genes (so called GxE interactions). The clips cites diabetes and Alzheimer’s disease as examples where a correlation with a particular allele at a particular gene may be hard to quantify.

The CPIGI, which launched in Oct 2015 (after the initial broadcast of this episode) is an umbrella group for 25 companies and offers a checklist of over 200 items intended to enhance trust between genetic test providers and clients. This includes the importance of genetic counselling. The launch of CPIGI has been controversial (e.g. see here), especially regarding the lack of consultation.

See this post for details of clips from Newsnight and BBC Breakfast in 2014, regarding the UK launch of DTC genetic service 23andMe.

 

PooPrint Your Pooch (BBC Breakfast)

petpoohBroadcaster: BBC1

Year: 2016

Genre: News

URL: http://bobnational.net/record/355742

Reviewed by Emma Sterling

“They might be cute but the mess some dogs leave behind is unpleasant and can also be dangerous. That’s why Barking and Dagenham council in East London are doing this: encouraging dog owners to register their pets’ DNA.”

It may sound like a joke, but this clip from BBC Breakfast (6 minutes) covers the story on the latest plans by the East London Borough of Barking & Dagenham to combat the problem of dog mess on the streets. Aside from being unsightly, dog faeces on the street pose a health risk, mainly to young children, who could contract toxocariasis by unintentionally ingesting roundworm parasites after touching mud laced with faeces. Barking and Dagenham spend approximately £2.3million a year cleaning up dog excrement and, in times of austerity, it is increasingly important that this sum is reduced by encouraging people to pick up after their pets.

The borough have partnered with PooPrints®, a company specialising in the genetic analysis of dog waste to give residents the opportunity to have their dog’s DNA stored on a database. This would be of potential benefit to registering owners to allow them to identify their dog if it is lost or stolen. Most importantly, in the context of the story, it will eliminate their pet in inquiries into the identity of any dog whose faeces have been left in the street. If the owner is found, they will be sent a warning letter. If there is a second offense, then they will be fined £80. At the moment, the service is voluntary which could be a problem as some may be unwilling to potentially incriminate themselves. However, the service is free for the first 1,000 dogs, which could provide an incentive, and the suggestion is made that it might be factored into future rent agreements in order to be granted permission to use the local parks. Continue reading

TB: Return of the Plague

TB documentary screenshot

Swaziland has declared the current TB epidemic a national emergency

Broadcaster: BBC 4

Year: 2014

Genre: Documentary

URL: http://bobnational.net/record/351052

Reviewed by Emma Sterling

“It’s very difficult to cure XDR because we’re just giving what we have on the table. The reality of XDR is that it’s almost incurable.”

(WARNING: Distressing content): BBC 4’s long-format (90 minute) documentary TB: Return of the Plague, reports on the fight against tuberculosis (TB) in Swaziland, the country with the highest rate of infection in the world. Continue reading