Tag Archives: Science Week

Science Week: Making sense of medical genetics

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This post was contributed by Dr Clare Sansom, of Birkbeck’s Department of Biological Sciences.

Professor Nick Keep (left) and Professor Jonathan Smith (right)

Professor Nick Keep (left) and Professor Jonathan Smith (right). Photo: Harish Patel

Genomics is still quite a young science. It is scarcely a decade since the first human genome sequence was decoded, at a cost of $3 billion, and we are already discussing the implications of the $1,000 or even $100 genome. Accurate genetic testing is now available for a wide range of diseases and conditions. And it is perhaps not surprising that we find it difficult to deal with this barrage of information, particularly when it comes to how it affects our own health.In the last of the 2013 Science Week lectures, Professor Jonathan A Smith, from Birkbeck’s Department of Psychological Sciences, described how people at risk of genetic disorders made decisions about testing, and how they responded to test results: thus, how they made sense of the personal implications of the complex discipline of medical genetics. His approach to his discipline is qualitative rather than quantitative: the case studies he reported involved in-depth discussions with a small number of participants rather than questionnaire evidence from large cohorts. Using this, he has been able to gain considerable insights into the thought processes involved in complex, personal and ethical decision making. Furthermore, he stressed, his is a two-way approach: he as the researcher is in some sense in a similar position to his participants in attempting to make sense of their genetic stories. At the same time, he is also in a different position from the participants as his sense-making is always of an account that they provide.

Genetic testing
In his lecture on 18 April, Professor Smith began by explaining the process that is involved in clinical genetic testing. Generally, an individual with a family history that indicates that he or she may be at risk for a condition will approach a clinic directly to be tested. There, the specialist will take a complete family history and explain the genetics of the condition, the possible spectrum of risks involved and what the results may mean. Whether the test goes ahead will be the client’s (or patient’s) own decision and that decision is very rarely a straightforward one. Test results will move the individual tested from a broad risk category into a narrower one and, in a few cases, that narrow risk category will be a 0 per cent  or 100 per cent risk of the disease. That individual risk, however, may not be the only result; very often, a test result for one individual will mean changes in risk category for some of his or her blood relatives. These relatives may not want to take the test, or they may lack the capacity to decide for themselves (if, for example, they are children). And once a test is taken, the knowledge obtained cannot be un-learned: there is no way to put the genie back in the bottle. 

Huntington’s disease
Huntington’s disease is one of the most devastating of all genetic conditions. It is a fatal, progressive neurological disorder with an onset at any age between the 30s and the 60s, so many  patients will already have children before they are diagnosed. All people who inherit one copy of the faulty gene will eventually develop the condition, although it is impossible to tell when, and a child with one parent with the disease is at 50 per cent risk of developing it. A genetic test is available that will either reduce that risk to zero or increase it to 100 per cent.

Professor Smith presented the results of a study of decision-making in people at risk of Huntington’s disease using a technique known, in the jargon, as interpretative phenomenological analysis. The investigators spoke in depth to a small number of participants, used no fixed questions, and aimed to let the participants tell their own stories. In this particular case, all these had one parent diagnosed with Huntington’s disease and so were at 50 per cent risk of the disease before testing; and each of them already had children of their own. He described the very different thought processes and reasons that three of these individuals brought to their decisions – two were in favour of taking the test, and one was inclined to not take the test.

One thing united these three individuals (and by implication the other participants whom they in some sense represented): the desire to “do the right thing by their children”. Professor Smith presented this as a case of a classic moral dilemma, where no one strategy should be seen as right or wrong, and suggested that the case studies would help genetic counsellors to understand the range of emotions and responses that is likely to be experienced by their clients.

 

Science Week: Earthquakes in Italy

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This post was contributed by Bryony Stewart-Seume, of Birkbeck’s Department of Biological Sciences.

Professor Gerald Roberts

Professor Gerald Roberts. Photo: Harish Patel

Science Week continued with a popular lecture about the widespread damage and complicated scientific questions arising from earthquakes.

Professor Gerald Roberts, of Birkbeck’s Department of Earth and Planetary Sciences, delivered a talk, entitled Earthquakes in Italy: the role of the historical record of earthquakes and geology, on 18 April. He began with a little history. The 1915 Avezzano earthquake killed a reported 30,000 people, and destroyed all but one building.

On  6 April 2009 an earthquake with its epicentre close to the town of L’Aquila in central Italy killed “only” 309 people. However, 30-50 per cent of the buildings in the town were badly damaged or razed to the ground, including a halls of residence in which eight students lost their lives. To better get an idea of the extent of the damage to the town (the centre of which has still not been repopulated), Prof. Roberts asked us to imagine half of the city of Bath being damaged beyond repair.

In an unfortunate twist the Town Hall of L’Aquila, which contained plans for dealing with such situations, was also badly damaged. Several 13-15th century cathedrals and churches were damaged and part of the modern hospital fell into the underground car park below it. The older masonry buildings proved especially vulnerable.

The financial cost of the 2009 earthquake has been estimated at €16 billion .

Scientists in the dock
There is, however, more to the story of the L’Aquila earthquake of 2009 than damage and a number of deaths. Prior to the earthquake citizens concerned by a number of tremors that had been rocking the city called upon the National Commission for the Forecast and Prevention of Major Risks to give an idea of the potential danger. What followed was unfortunate, in that initially the answer was along the lines of “it is not possible to predict earthquakes but this area has a long history of earthquakes and you should be vigilant”; a correct statement, but subsequently one of the members said in a TV broadcast that there was “no danger” which was not correct. 

When the earthquake did hit, police had reportedly told people that as there was “no danger” they should return to their houses. Seven members of the National Commission were subsequently tried, and convicted, for involuntary manslaughter. Their conviction was met with disgust by parts of the scientific community, although it was stated by the judge that it was not science that was judged, or the inability to predict an earthquake, but the failure to communicate consistently. This highly controversial conviction has led to concern amongst scientists about the future for those studying and communicating earthquake science.

So what can be done about this? Earthquakes will not stop happening. The African plate will not stop pushing into the plate containing Italy. And Italy will not stop being pulled apart. So how can we better communicate what we do know, and what we can do?

Asking the right questions
The question “when will there be an earthquake here?” is not one that can be answered. When an earthquake happens along any given fault is unpredictable. That an earthquake will happen along any given fault is inevitable. Earthquakes are caused by the movement of the plates of the Earth’s crust. Professor Roberts demonstrated through use of a model with springs and metal blocks moving on a sandpaper surface just how chaotic the movement is. The elastic crust pulls apart (or pushes together), tension builds up and the ‘elastic’ releases. This is what causes the earthquake itself. 

Professor Roberts took us through a more useful series of questions that populations should be educated to ask rather than the standard “when” question, the first being; does my area have a history of earthquakes. If you happen to live in central Italy the answer is obviously and demonstrably “yes”.

The next question that should be asked is; do I live in an earthquake zone? If you live near to an active fault, the short answer is “yes, you do.” But how active is it? How can that be measured? The question to ask here is “how much has the fault shifted, and how quickly?” This is measurable, believe it or not, with the help of supernovae – burnt out and blown up stars that send out high energy particles that react when they hit calcium, for example in limestone around L’Aquila to produce new 36Cl atoms. 

Professor Roberts stressed that although earthquakes cannot be predicted, in areas containing active faults they are inevitable and this needs to be communicated to populations.

The more time that elapses between each earthquake the more tension builds up and therefore the bigger the quake will be when it does happen. Which it will. They are inevitable, but not predictable.

Given that it is the building that kills you, not the earthquake itself, the best way to prepare for a quake is to make sure your buildings will take the strain. Buildings made out of cubes are weak and no match for the ferocity of  nature. But if you reinforce the buildings with struts to make triangles in corners, you will improve the integrity straight away.

There is, therefore, a need to educate populations about the right questions to ask and about the significance of small tremors. These questions should be asked many years in advance to ascertain whether earthquakes are inevitable in the area they inhabit and how they can undertake actions to prepare buildings to withstand the seismic shaking.

Just because there has not been an earthquake for a long time does not mean that you are safe. In fact, quite the opposite. All this needs to be conveyed, but without being alarmist.

Science Week: Sex, drugs and rock n’ roll

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Chlamydia: unlocking the secrets of a stealth pathogen

Dr Richard Hayward – a Royal Society University Research Fellow and a member of the Institute of Structural Molecular Biology at Birkbeck/UCL – presented his group’s latest findings on Chlamydia on 17 April during Science Week.

Professor Nick Keep and Dr Richard Hayward

Dr Richard Hayward (right) and Professor Nick Keep. Photo: Harish Patel

Dr Hayward started with an overview of bacteria, explaining that most bacteria are good so-called commensal bacteria that coexist alongside us fine. Indeed our bodies contain more bacterial cells than human cells. Some bacteria can be bad when we are weakened and there is opportunist infection. A few bacteria are always BAD, these are the pathogens such as the bacteria that cause TB. These pathogenic bacteria secrete toxins or, as in the case of Chlamydia, have developed a syringe like mechanism to inject proteins into host cells. Dr Hayward also compared the parts of both a bacterial cell and human cell to parts of a town – the power station, the waste dump and so on.

He then focussed on Chlamydia, which is the most common sexually transmitted disease. Often infections are not noticed, but even these can lead to infertility. Chlamydia infection is also associated with pelvic inflammatory disease and cancer in women. He turned to the effect on men towards the end of the talk, where his own research in collaboration with Addenbroke’s Hospital in Cambridge has shown that Chlamydia bacteria can enter sperm and will almost certainly therefore impact on male fertility.

The National Screening Programme for Chlamydia has unfortunately had a limited effect in reducing infection according to a National Audit Office report. Persuading teenagers to reduce their sexual activity has proved to be difficult. Perhaps development of a vaccine will be a more productive approach.

In the third world Chlamydia, however, is the cause of blindness by trachoma, which is an eye infection spread by touch between family members rather than a sexually transmitted disease. The WHO S.A.F.E. programme (Surgery, Antibiotics, Facial cleanliness and Environmental change – access to clean water) is starting to positively impact on this form of infection.

The core of Dr Hayward’s was his group’s own research on looking at Chlamydia. Chlamydia is hard to study as it cannot be grown in liquid or plate culture, it can only be grown in cell lines. There are also no systems to manipulate its genetics. It has two stages of its life cycle – elementary bodies and reticulate bodies. These had led to a debate only recently resolved as to whether Chlamydia was a bacteria, virus or parasite.

Dr Hayward showed some beautiful pictures and movies using fluorescence microscopy, confocal microscopy and electron tomography, which have shown for the first time the interactions between Chlamydia and the host cell in great detail. It was even possible to just about see the needle injection apparatus of the bacteria actually penetrating the host cell. These new insights into the infection cycle show up possible places to target to counter this complex infection. Dr Hayward did an excellent job in explaining what we know and what we still need to find out.

Science Week: The latest findings in autism research

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This post was contributed by Guy Collender, of Birkbeck’s Department of External Relations.

ProfessorMichaelThomas400, of Birkbeck's Department of Psychological Sciences

Professor Michael Thomas shared the latest autism research during Science Week. Photo: Harish Patel

The media spotlight never seems to be far away from autism, and interest in the developmental disorder has been reignited by the measles outbreak in Swansea. The discredited research linking the MMR vaccine and autism is in the news again, and other debates about autism abound – what causes it?, how early can it be diagnosed?, and how can it be treated?

In light of these controversies and unanswered questions, it was not surprising that a packed lecture theatre awaited the thoughts of Professor Michael Thomas when he delivered his talk about autism on 17 April during Birkbeck’s Science Week. Grabbing the last seat on the back row, I joined the audience and found it refreshing to hear a considered and comprehensive assessment of the spectrum disorder that affects how a person communicates with, and relates to, other people. The talk helped separate fact from fiction and explored an interesting new hypothesis about the cause of autism too.

Professor Thomas, of Birkbeck’s Department of Psychological Sciences, explored the different causal explanations of autism. He described how genes play the major role, but that most cases involve a mixture of common variants (not mutations) and that genetic explanations do not tell the whole story. For example, Professor Thomas said that an identical twin has a 60-90 per cent chance of developing autism if the other twin is affected by the disorder. Therefore, environmental factors must play a role in determining whether a child develops autism as if genes were wholly responsible the figure would be 100 per cent. He also highlighted how the severe deprivation experienced by children in Romanian orphanages caused around 10 per cent of these children to show quasi-autism.

Birkbeck research
Referring to recent Birkbeck research, Professor Thomas explained that changes in brain activity among babies can be detected and are able to predict whether a child will develop autism. Ongoing work at Birkbeck as part of the British Autism Study of Infant Siblings (BASIS) Network is investigating these early months, and early behavioural indicators of autism are being identified at 12 months.

Professor Thomas mentioned screening for autism, but indicated that this isn’t yet a realistic prospect because of the costs involved, concerns about the accuracy of the diagnosis, and what happens after diagnosis. For instance, if autism can be diagnosed, but effective interventions do not exist, then how helpful is a test? Earlier in the lecture, he referred to interventions and stressed that where they are effective they need to be sustained and intense. Research has shown that the most promising approach is early intensive behavioural intervention, which needs to start before age two and be carried out for at least 40 hours per week over two years.

New hypothesis
Professor Thomas also set out a new hypothesis regarding the cause of autism. He explained how connections within the brain are ‘pruned’ in early and middle childhood as unused connections, which are expensive for the body to maintain, are cut away. The pruning hypothesis proposes that this natural process malfunctions in children with autism. Instead of just cutting unnecessary connections, exaggerated pruning means functional connections within the brain are cut. In some children this occurs slightly later, allowing normally looking early behaviour followed by the loss of acquired skills during the second year of life. In other children, exaggerated pruning in the first year leads to atypical development after the first few months of life. The hypothesis predicts that such pruning should affect the sensory and motor systems first, and home videos of infants with autism recorded at four or six months do show some anomalous movements.

The complexities of autism were clearly made throughout the presentation, but what was also clear is that more and more research is leading to a greater understanding of autism and is likely to lead to earlier and earlier diagnosis of the disorder.