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Every year, thousands of babies around the world are born with rare genetic diseases leading to death or lifelong disability. With technological advancements in the fields of genetics and medicine, the rate of introduction of treatments for these rare conditions has grown remarkably.
Interestingly, new treatment costs can range from very little to several million pounds. A recently approved Spinal Muscular Atrophy gene therapy has been priced in the UK at ~£1,8m. Several devastating diseases affecting children can be treated with very cheap drugs and even vitamins. For example, Congenital Myasthenia may cause deep hypotonia (decreased muscle tone) and respiratory insufficiency, where the body is not provided with enough oxygen. It is a rare disease, and the patient’s journey to diagnosis can be extremely long. Nevertheless, Congenital Myasthenia can be dramatically improved with salbutamol or pyridostigmine, two very cheap drugs.
All of this could have been avoided with an early diagnosis and a simple drug costing about £7 a month.
Before moving to the UK, I diagnosed three patients with DOK7, causing muscle weakness, in my hometown of Liège, Belgium. The three patients spent 60 years collectively in a wheelchair, had six muscle biopsies that were not helpful, and spent 45 years with invasive ventilation. All of this could have been avoided with an early diagnosis and a simple drug costing about £7 a month.
Last week I diagnosed a child with a neurotransmitter disease. This baby boy, now 18 months old, is in a severe condition that would have responded quickly to L-dopa, folic acid and serotonin, all cheap medications. Today, after several long and severe epileptic seizures, it is likely too late. A variety of severe epileptic disorders of newborns, leading to irreversible damage to the brain, are readily treatable with pyridoxine, or pyridoxal phosphate, two cheap vitamins.
There are many more examples like these. Many more stories of lifetimes spent in a wheelchair, many more stories of patients connected to a respirator long term, families exhausted by diseases that we could have diagnosed and treated much earlier.
Timing is of great importance
Early diagnosis is of primary importance both to obtain the best effect of innovative medications and to accelerate their development.
In nearly all of these rare diseases, timing is of great importance for medication administration. The benefit for a patient who has already suffered from a long, irreversible disorder is small and, sometimes, hardly justifies the cost and the burden of the treatment. Early diagnosis is of primary importance both to obtain the best effect of innovative medications and to accelerate their development. Early diagnosis is easily achievable by universal newborn screening (NBS).
NBS has existed for more than 40 years, but has focused on metabolic diseases like phenylketonuria. All the diseases mentioned here are probably even better candidates for newborn screening than phenylketonuria, which is the “archetype” of diseases that warrant newborn screening. The only difference is the methods that are now used.
In 2018, we pioneered an innovative genetic NBS programme in Southern Belgium for Spinal Muscular Atrophy (SMA) that has, so far, allowed nine children to be diagnosed and treated early and avoid the terrible fate of the disease. The programme was rolled out in 16 countries, including public dissemination and health-economic analysis from the beginning. Very recently, SMA officially entered the NBS programme in Belgium.
Being much more efficient in the diagnosis of treatable conditions and in the treatment of these diseases is feasible. It needs funding and open minds.
In the UK, we have designed and funded a pilot study that aims to screen 24,000 newborns/year and for which we are currently seeking approval. When you know that every five days a child is born in the UK with this disease and will at best spend their life in a wheelchair, rather than being able to walk if diagnosed at birth, the waiting is difficult.
Being much more efficient in the diagnosis of treatable conditions and in the treatment of these diseases is feasible. It needs funding and open minds. We need to ask ourselves the basic question, “Why not?”. We must place ourselves in the shoes of parents and ask ourselves: if there is a test to find if my child has a treatable disorder and to fix it immediately, rather than taking the risk of waiting for the disease and irreversible damage, why would I not take it?
Further information can be found at:
NHS information of newborn screening
Professor Laurent Servais is Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre and Invited Professor of Child Neurology at Liège University. He leads numerous clinical trials in neuromuscular diseases and has a special interest in newborn screening programmes.
By Dr Samantha Vanderslott, Oxford Martin School and Dr Seilesh Kadambari, Department of Paediatrics
Why is this important to us?
We have been struck by how COVID-19 has affected the health and wellbeing of ethnic minority groups disproportionately. Individuals from these communities are more likely to have severe disease requiring intensive care admission and sadly succumb to infection than those from a white ethnic background. This is independent of age, gender or socioeconomic factors. However, vaccine uptake has been low in certain communities and for lots of different reasons. These include specific concerns about vaccine safety, increased exposure to misinformation, reduced access to vaccines and historical distrust with institutions. Asylum seekers have cited negative experiences with authorities, and some don’t trust public health messaging related to vaccines. Central government often use one-way messaging, which will sometimes miss these groups. Promoting vaccination through celebrity adverts, videos via social media and community champions may also not reach disaffected communities who feel marginalised during the pandemic. We encourage a two-way dialogue in the hope that these groups can trust us with providing evidence-based answers to queries and enable informed decision making before getting a vaccine.
What are we doing?
We found approximately 200 community organisations online that provide community, religious or social support to individuals and groups across the UK. We approached these organisations to invite us to any online meetings being held during the lockdown in order to provide information about the vaccine, answer questions and encourage dialogue. Our intention has been not to overwhelm individuals with information and so we do not use slides or overly scientific language. The majority of our meetings are therefore spent listening to concerns or questions, addressing these directly and encouraging two-way conversation.
We have spoken to organisations that support asylum seekers, refugees, interfaith groups and elderly ethnic minority citizens. Concerns have ranged from the risk of deportation by registering for a vaccine, addressing misinformation that has circulated in specific communities and discussing a range of vaccine safety concerns.
Who is involved?
This initiative is conducted by Dr Seilesh Kadambari and Dr Samantha Vanderslott. We are based at Oxford Vaccine Group and use information and materials from the Vaccine Knowledge Project.
The Vaccine Knowledge Project has also worked with the British Islamic Medical Association to develop FAQs about vaccines and vaccine ingredients translated into over 100 different languages and available on the website. This resource has been shared through these online conversations and their communities. The calls are facilitated by the organisations that we have reached out to. We have benefited from having a medic able to address safety issues and health conditions and a researcher able to address vaccine policies and misinformation.
What works for us?
Most importantly, this work has highlighted the importance of connecting with individuals and groups directly. We ensure that every opportunity is taken to answer questions and that individuals can make an evidence-based decision on whether to receive a vaccine. The meetings, facilitated by community leaders, are held at convenient times for different organisations. For example, in the afternoon for an organisation supporting elderly women of South Asian background, in the evening after work for a group supporting asylum seekers and on a weekend before Ramadan for Muslim organisations. It has been deeply humbling and thoroughly enjoyable work. Our aim has been to provide individuals with sufficient confidence to receive a vaccine and therefore ensure protection against a pandemic that has exacerbated disparities in these vulnerable groups.
More information
For information and materials on vaccination, check out the Vaccine Knowledge Project.
There are also plenty of other examples of good practice.
When will this all be over? As the number of COVID-related infections, hospitalisations and deaths reported in the UK continues to fall, the chorus grows ever louder for the abandonment of restrictions on everyday activity.
Summer holidays in Spain, crowded sporting arenas and nightclubbing, are held out as examples of normal life to which we can look forward. But, for many, it is the more mundane life they miss: meeting friends and relations indoors, having a coffee in a coffee shop, going to the library or cinema.
But the question of when the pandemic (or epidemic) is over is not as simple as it might appear. It is a medical question, but determining what is an epidemic and when it has ended is also a political and social question.
In the past, epidemics have ended in a variety of ways...sometimes the illness has gone but sometimes people have learned to live with it
In the past, epidemics have ended in a variety of ways – some in which the illness has gone and others in which it has not, but people have learned to live with it.
Oxford Historian Dr Erica Charters is leading a project looking at these complex questions. Some 40 researchers, from more than a dozen universities across the academic spectrum, have come together to study - ‘How Epidemics End’.
The team includes experts in a variety of past events which have wreaked havoc around the world – from the plague to TB to HIV/AIDs to cholera.. And this week the team is releasing a series of videos discussing what has happened in past epidemics. The first three videos compare how different researchers study cholera and its ending, explaining the cholera epidemics which devastated countries including England in the 19th century, but more recently, Yemen.
‘We have asked the question: how did epidemics end?’ says Dr Charters. ‘We have brought together longer term reflections on this and looked at the different ways of distinguishing the end – looking at epidemiological and mathematical models alongside political and social questions.
’But there is no one answer. Everyone wants certainty and answers but it is not just a decision about a disease but a political decision: what will people live with?’
Everyone wants certainty and answers but it is not just a decision about a disease but a political decision: what will people live with?
Dr Erica Charters
In January, Dr Charters and Dr Kristin Heitman wrote, ‘Detailed research on past epidemics has demonstrated that they do not end suddenly; indeed, only rarely do the diseases in question actually end.’
Dr Charters points out, ‘In the past, epidemics have ended in one of three ways.
‘People begin to live with it [influenza]. It moves to another part of the world [the plague] or it is managed through medical treatment and no longer seen as an epidemic in that part of the world [HIV/AIDs].’
As the numbers of infections continue to fall in the UK, although other countries are still experiencing severe illness, COVID appears to follow the pattern. But Dr Charters warns against ‘false endings’. And the historian, who specialises in the history of medicine, points out that some diseases may be considered an epidemic in some parts of the world but may be common elsewhere, ‘Malaria is endemic in large parts of Africa but if there were cases in England, it would cause alarm.’
People begin to live with it [influenza]. It moves to another part of the world [the plague] or it is managed through medical treatment and no longer seen as an epidemic in that part of the world [HIV/AIDs]
It is this sense of alarm which underpins the pandemic (which is an epidemic on a global scale). The January paper maintains, ‘Epidemics—like the recurring narratives they produce—throw a society's confusion, fears, and anxieties into high relief.’
It continues, ‘When communities are thrown into panic and turmoil by the outbreak of a new disease, when medical committees are convened and central governments spring into action, epidemics are understood in clear biological terms.... But at the end stages of epidemics, the disease is regarded through the filter of political, social, and economic dislocation—dislocations that have deepened as the epidemic progressed—articulating the processes by which policy decisions are debated and implemented, and the accommodations between scientific models and human behaviour.’
The World Health Organisation categorises it as a public health emergency of international concern. But, from a global perspective, it means different things to different groups at different times – not just as the disease spreads around the world but because within the same country, different groups will experience a disease differently.
So the end will also be different for different peoples. Dr Charters says, ‘It is unlikely that there will be a single end date.’
There may be biological markers, suggesting a decline in infections or excess deaths. People tried to track these in 17th century England, when the number of plague deaths fell and the population returned to London – rather prematurely.
But, says Dr Charters, in general, the end of epidemics can be traced to ‘when people resume social practices’. She adds, ‘When the city gates opened and groups returned.’
In general, the end of epidemics can be traced to when people resume social practices. When the city gates opened and groups returned
And she notes, there is also a falling off of evidence – as people stop recording the impact of the disease and go back to their previous occupations.
According to the article ‘How epidemics end’, ‘Epidemics end once the diseases become accepted into people's daily lives and routines, becoming endemic—domesticated—and accepted. Endemic diseases typically lack an overarching narrative because they do not seem to require explanation. More often, they appear as integrated parts of the natural order of things.’
But, says Cr Charters, one of the research team points out that there have just as often been celebrations and thanksgiving to mark the end of epidemics - that they have not just fizzled out.
Endings were not always quiet,’ she says. ‘There have been celebrations and fireworks, thanksgiving...but most epidemics have ended when people just returned to their lives.'
See the videos here How epidemics end | How Epidemics End (ox.ac.uk)
Professor Gascia Ouzounian
Contemporary art is replete with works which explore the relationships between sound and space, with ‘space’ understood in physical, sensorial, geographical, social, and political terms.
Today, I can plug my headphones into the façade of a building in Berlin called BUG, to hear how its materiality, made audible through the use of seismic sensors in the building’s infrastructure, changes over time and in response to atmospheric variations, weather and other environmental factors. In other words, I can listen to a building as it evolves over time and in relation to its surroundings.
I can listen to a building as it evolves over time and in relation to its surroundings
In suburban London, I can visit Vex, a building whose spiralling form is inspired by the music of Erik Satie and the methods of John Cage.
Electronic music, projected over loudspeakers, is played throughout the building. It is created from sounds recorded during the making of the building itself: the sounds of breaking ground, of pouring concrete. This literal musique concrète is lush and surprisingly beautiful. It is impossible to say where music begins and architecture ends.
In 2017, I could visit Silent Room, an acoustic refuge in a low- income neighbourhood in Beirut. This temporary structure, erected in a parking lot close to a highway, used acoustic panelling to reduce environmental noise, but it also featured a quiet, meditative soundtrack composed of everyday city sounds. The designer wanted to draw attention to the uneven ways in which noise affects rich and poor inhabitants of the city - how a politics of noise shapes the city and differently impacts upon the lives of its residents.
While these particular projects are formed at the intersection of music, art, architecture and urban design, many others take the form of sound recordings, compositions, performances, films, installations, sculptures, radio works, websites, and much more.
Today, I can take a listening tour of Bonn, following a map of unique acoustic features of the city created by Bonn’s ‘City Sound Artist’ in 2010. Or, I can take an ‘electrical walk’ in any number of cities while wearing specially designed headphones which make audible normally inaudible elements of urban infrastructure. During my walk, formerly silent objects such as surveillance cameras, ATMs, and transportation infrastructures, beat and resonate with the pulses and tones of electromagnetic energy.
Despite this striking profusion of creative work and research that takes place at the intersection of sound and space, our historical understanding of how sound came to be understood as spatial remains lacking. Today we take for granted that sound is spatial, and that hearing is spatial: that it is possible to hear where sounds come from and how far or close they are.
Today we take for granted that sound is spatial, and that hearing is spatial: that it is possible to hear where sounds come from and how far or close they are
However, as recently as 1900, a popular scientific view held that sound itself could not relay ‘spatial attributes’, and that the human ear had physiological limitations which prevented it from receiving spatial information. Many psychologists believed it was through reasoning, or visual or haptic sensations, that an ‘auditory space’ was constructed.
In order to explore such striking shifts in perspective, Stereophonica: Sound and Space in Science, Technology, and the Arts (MIT Press) traces a history of thought and practice related to acoustic and auditory spatiality as they emerge in connection to such fields as philosophy, physics, physiology, psychology, music, architecture, and urban studies.
In the work, I track evolving ideas of acoustic and auditory spatiality (the spatiality of sound and hearing); and ideas that emerged in connection to particular kinds of spaces, acoustic and auditory technologies, musical and sonic cultures, experiences of hearing, and practices of listening.
My discussion begins in the 19th century, when scientists began systematically to study the physiology and psychology of spatial hearing. It extends to the present day, when sound artists seek to reconfigure entire cities through sound, and the concept of ‘sonic urbanism’ circulates within and across the worlds of architecture, urban studies and sound studies. Rather than trace a linear trajectory through any one historical route, I revisit a series of historical episodes in which the understanding of sound and space were transformed:
- the advent of stereo and binaural technologies in the 19th century;
- the birth of acoustic defence during the First World War;
- the creation of new stereo recording and reproduction systems in the 1930s;
- sonic warfare in the Second World War;
- the development of ‘spatial music’ and sound installation art in the 1950s and 1960s;
- innovations in noise mapping and sound mapping; and
- emergent modes of sonic urbanism (ways of understanding and engaging the city in relation to sound).
Each of these phenomena represents a distinct shift in how sound is created, experienced or understood in relation to space. Further, each sheds light upon evolving acoustic and auditory cultures, ways of listening, and changing ontologies of sound and space.
My aim is to cut into and across normally distinct histories, in order to show how various conceptions of acoustic and auditory spatiality have evolved over time and in connection to one another
By focusing on such transformative episodes, whether they last several years or several decades, my aim in Stereophonica is to set into dialogue various realms of thought and practice that bear upon contemporary ideas of acoustic and auditory spatiality, but that are normally kept distinct within such disciplines as philosophy, physics, engineering, music, and urban studies.
My aim is to cut into and across normally distinct histories, in order to show how various conceptions of acoustic and auditory spatiality have evolved over time and in connection to one another.
I therefore devote considerable attention to experimental projects, whether in science, music, art, or their interstitial spaces - including experiments that failed, were limited in their scope, had troubling ethical implications, or simply did not ‘succeed’ in entering mainstream discourses and canons, but that are nevertheless important because of their conceptual, technical, and aesthetic innovations.
It is within these experimental practices, those that test the boundaries of a field, that I find particular interest, especially with respect to ideas that defied conventional thinking and, in some cases, put wider social or cultural conventions under pressure.
In contrast to discourses that understand ‘space’ as a void to be filled with sound, my discussion shows that acoustic and auditory spaces have never been empty or neutral, but instead have always been replete with social, cultural, and political meanings. The case studies are chosen to reflect a particular progression both within and across them: how spatial conceptions of sound and hearing were hypothesised, codified, problematised, and politicised.
Stereophonica reveals how different concepts of acoustic and auditory space were invented and embraced by scientific and artistic communities, and how the spaces of sound and hearing themselves were increasingly measured and rationalised, surveilled and scanned, militarised and weaponised, mapped and planned, controlled and commercialised - in short, modernised.
Professor Gascia Ouzounian is a musicologist with the Oxford Faculty of Music and a member of Lady Margaret Hall.
Concerns over missed education for young people have spread around the world with schools and colleges firmly shut for long stretches because of COVID-19. In England, the Government has announced large-scale funding to help education recover from the devastation of the pandemic. As part of this, the very youngest children, who have poor oral language skills and have been particularly affected by the switch to online learning, will be able to access specialised help – key to academic success.
It is widely recognised that language skills are fundamental to many aspects of cognitive and psychosocial development, and that poor language skills are a barrier to educational success.
The current rollout of the NELI programme in English primary schools is a stunning example of how basic academic research can be translated into practical application at large scale
Developed by an Oxford team, led by Professors Charles Hulme and Maggie Snowling, the Nuffield Early Language Intervention (NELI) programme improves oral language skills in young children. According to research by this group, there can be a transfer effect with oral language interventions, leading to improved reading comprehension.
As a result of official funding, it is hoped that all primary schools in England that want it, will benefit from the Oxford oral language programme. Last autumn, the Department for Education announced a £9 million investment in the programme, with a further £8 million announced for next academic year. In this academic year, this funding has enabled the programme to be delivered by some 6,500 schools. Schools wishing to register interest, can do so here.
The current rollout of the NELI programme in English primary schools is a stunning example of how basic academic research can be translated into practical application at large scale.
Children’s oral language skills are a critical foundation for the whole of formal education....Good language skills underlie a child’s ability to learn to read and to master arithmetic
Professor Charles Hulme
Professor Hulme says, ‘Children’s oral language skills are a critical foundation for the whole of formal education. To learn in the classroom, children need to understand what is said to them and be able to express their thoughts and feelings. Good language skills underlie a child’s ability to learn to read and to master arithmetic.’
Dr Gillian West, a member of the research team, comments, ‘Language skills are also critical for children’s social and emotional development, and their ability to make friends.’
Language skills can vary greatly among social groups. According to Professor Hulme, ‘It is well established that children from socially disadvantaged backgrounds often enter school with weak language skills. The NELI programme offers the potential to help reduce social inequalities in educational outcomes and can also be used effectively with children for whom English is an additional language.’
Language skills are also critical for children’s social and emotional development, and their ability to make friends
Dr Gillian West
The schools taking part identify five or six children in each reception class with the weakest oral language skills.
Last month, a study of NELI’s effects by Professor Hulme showed that the programme produced sizeable improvements in children’s language skills and small improvements in word reading skills.
Teachers and teaching assistants are trained to deliver the NELI programme using an online training programme, developed by the Oxford team, and delivered on the FutureLearn platform. The schools taking part identify five or six children in each reception class with the weakest oral language skills.
These children receive the programme get two 30 minute group sessions each week and three 20 minute individual sessions. During these periods, the children are involved in speaking and listening activities including storytelling and learning new words. Once staff are trained, NELI can be implemented in schools year after year, benefitting generations of children.
Identifying those children who would benefit from the programme is key. Teachers need a way to identify language weaknesses when using the NELI programme. A ‘LanguageScreen’ assessment app has been developed by Professor Hulme’s research group in collaboration with Dr Mihaela Duta and Dr Abhishek Dasgupta in Oxford’s Department of Computer Science. It is now available to all schools via an Oxford spinout company (LanguageScreen.com).
Dr Duta says, ‘It is a great pleasure to bring software engineering to bear on an issue of such social importance.’
Children from socially disadvantaged backgrounds often enter school with weak language skills. The NELI programme offers the potential to help reduce social inequalities in educational outcomes and can also be used effectively with children for whom English is an additional language
Professor Hulme
The Education Endowment Foundation, with private equity enterprise ICG, provided funding to develop online training for the programme, ensuring it could be offered in a social-distanced manner as well as at national scale.
LanguageScreen runs on a tablet or phone and gives teachers an accurate and rapid assessment of a child’s language ability via a secure automated online report. LanguageScreen will allow teachers to monitor the development of children’s language skills.
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