This collaborative study between the University of the Witwatersrand’s and the University of Manchester’s programme will analyse the programme’s  impact  on their development. It is funded by the UK's Medical Research Council.

Prof Claudine Storbeck  Primary Investigator: South Africa said: “Around 6,000 deaf children are born in South Africa each year, but the lack of universal newborn hearing screening means that the average age of diagnosis of hearing loss in South Africa is 28 months old.

“The availability of data on deaf child development and impact of early intervention is sparce and structured early intervention programmes to promote early childhood development in the first three years of life are minimal

“Those offering South African Sign Language (SASL) as a language option are very rare and largely unavailable to families.”

“As a result, the linguistic, communicative, cognitive, and socio-emotional development of deaf and hard-of-hearing children in South Africa can be delayed, often significantly.”

Prof Alys Young – Primary Investigator said: “Results from high-income countries show that identification and diagnosis by 3 months of age with family support and early intervention by 6 months of age drastically improve the developmental progress of deaf children.

“The project will investigate the extent and character of the impact of such a home-based early intervention programme, alongside an understanding of what might mitigate the effectiveness of such a programme of intervention.

“This is important because home-based early intervention for deaf infants is not universal and the case for its effectiveness is not proven within the wider context of school readiness in South Africa.”

The researchers will investigate the HI HOPES early intervention and family support programme, which supports families with deaf and hard of hearing children

Founded in 2006 by the Wits Centre for Deaf Studies as a non-profit programme, it provides families with specialised home-based early childhood development  programme for children from birth to 6.

The project also aims to provide large scale data on the development of deaf children in South Africa that will help to inform the South African Government/UNICEF National Early Learning and Development Standards (NELDS) from birth to four years.

It will also support, age-normed and standardised Early Learning Outcomes Measure (ELOM) 4 & 5 Years assessment tool, developed by South African early learning charity .

An important part of the  work will be the adaptation of the ELOM to ensure suitability for deaf children as well as developing a standardised South African Sign Language (SASL) version to ensure the validity of all items for children who are SASL users.

Prof Storbeck added: “It will be possible for the first time in South Africa to accurately evaluate deaf children’s developmental progress and needs in all domains (not just language) at point of school entry.

For more information on the overall research project, contact: Prof Claudine Storbeck – Primary Investigator: South Africa,  The University of the Witwatersrand,  claudine.storbeck@wits.ac.za  and Prof Alys Young – Primary Investigator: UK,  The University of Manchester, alys.young@manchester.ac.uk

Using a simple cheek swab, the test can identify in 26 minutes whether a critically ill baby admitted to intensive care has a gene change that could result in permanent hearing loss if they are treated with a common emergency antibiotic, Gentamicin.

The test, developed by 91ֱ�� researchers was first piloted at Saint Mary’s Hospital and Liverpool Women’s Hospital in 2021.

Following its success, the test was implemented into routine clinical practice Saint Mary’s Hospital in 2022, which has now been extended to North 91ֱ�� General Hospital (NMGH) and Wythenshawe Hospital, part of Saint Mary’s Managed Clinical Service at MFT in July 2023.

It is estimated that approximately 1,700 babies a year will be tested at MFT, which has so far saved the hearing loss of six babies in Greater 91ֱ�� since the pilot in 2021 through to the implementation of the test in 2022.

This introduction follows the by the National Institute for Health and Care Excellence (NICE), earlier this year.

Dr Ajit Mahaveer, Consultant Neonatologist at Saint Mary’s Hospital, was involved in the initial research and has led the rollout across MFT. He said: “Since its introduction at Saint May’s Hospital in October last year, over 600 babies have been tested. Three babies tested positive for the gene change that would cause them to go deaf if given Gentamicin and were successfully given an alternative antibiotic within the NICE recommended ‘golden hour’.”

While Gentamicin is used to safely treat approximately 100,000 babies a year, one in 500 babies carry the gene change that can lead to permanent hearing loss when given the drug.

Dr Mahaveer continued: “As a doctor dealing daily with infection, it is important that we do not delay antibiotic treatment. The new swab test technique replaces a test that traditionally took several days and is the first use of a rapid point of care genetic test in acute neonatal care. It is fantastic to be involved with the rollout of the test across MFT hospitals, which will ensure even more babies do not lose their hearing for a preventable reason.”

Approximately 350 nurses have been trained to use the genetic testing machine across MFT at Saint Mary’s Hospital, Wythenshawe Hospital, and NMGH.

Rachel Parkinson, Senior Sister, Neonatal Unit, North 91ֱ�� General Hospital, said: “Babies can deteriorate so quickly that giving them antibiotics for proven or suspected infection is an absolute priority to ensure the best possible outcome. It is fantastic that in these situations we can now test quickly and easily for this gene change, day or night.

“It is also further reassuring to know that this result could not only have an immediate impact on their lives, but it could also ensure those babies with the genetic variant can further avoid treatment with Gentamicin over their lifetime.”

Dr Mahaveer concluded: “This straightforward non-invasive test is the future of individualised treatment. I am very proud of the team of researchers and clinical staff who have contributed to its success so far. Our ambition is to see this test rolled out across all maternity services in England so that all babies and families can benefit from this test, if needed.”

While MFT is the first trust to routinely use the test, other NHS trusts in Greater 91ֱ�� will soon follow. Bolton NHS Foundation Trust​, Northern Care Alliance NHS Foundation Trust, Tameside and Glossop Integrated Care NHS Foundation Trust​ and Wrightington, Wigan and Leigh NHS Foundation Trust are also set to introduce the revolutionary test in 2023.

91ֱ��-based firm genedrive plc developed the genetic based test with researchers based at MFT, supported by the National Institute for Health and Care Research (NIHR) 91ֱ�� Biomedical Research Centre (BRC) and The University of Manchester.

David Budd, CEO, genedrive, said: “The continued rollout of the Genedrive® MT-RNR1 test demonstrates the engagement with new technology by the MFT clinical teams as well as the positive health impact that point of care molecular testing can have on patients. By having their genetic susceptibility to aminoglycoside treatment rapidly and easily checked prior to treatment, the expanded availability of the Genedrive® MT-RNR1 test throughout the North West region will provide every newborn access to safer and more assured treatment.”

The test rollout at MFT and across Greater 91ֱ�� has been made possible with funding from and its . The programme will collect data for the NICE evidence generation plan which supports the long-term recommendation of the test across England.

Jonathan Massey, Programme Director for Academia at HInM said: “Health Innovation 91ֱ�� funding is supporting the wider adoption across the city-region, ensuring that the work done to date will translate to better and equitable patient outcomes, wherever a child is treated in Greater 91ֱ��.”

Image caption: Rachel Parkinson, Senior Sister on the Neonatal Unit at North 91ֱ�� General Hospital is one of 350 nurses trained to use the device at MFT

91ֱ�� researchers, based at Saint Mary’s Hospital, part of Manchester University NHS Foundation Trust (MFT), worked with The University of Manchester and 91ֱ��-based firm genedrive Plc on the Pharmacogenetics to Avoid Loss of Hearing (PALOH) study. Together, they developed the pioneering, rapid bedside genetic test which was .

Using a cheek swab, the test can identify in 26 minutes whether a critically ill baby admitted to intensive care has a gene change that could result in permanent hearing loss if they are treated with a common emergency antibiotic, Gentamicin.

While Gentamicin is used to safely treat approximately 100,000 babies a year, one in 500 babies carry the gene change that can lead to permanent hearing loss when given the antibiotic.

The new test means that babies found to have the genetic variant can be given an alternative antibiotic within the ‘golden hour’ and could save the hearing of 200 babies in England every year.

PALOH study lead, Professor Bill Newman, Consultant in Genomic Medicine at MFT and Professor of Translational Genomic Medicine at The University of Manchester, said: “I am delighted for the team to receive this recognition of their fantastic efforts and their innovative approach in bringing this test to fruition.”

The new swab test technique, which was piloted at MFT, replaces a test that traditionally took several days and is the first use of a rapid point of care genetic test in acute neonatal care.

Dr Ajit Mahaveer, Consultant Neonatologist, Rachel James, Senior Research Coordinator and Nicola Booth, Research Nurse Manager on the Newborn Intensive Care Unit at Saint Mary’s Hospital, attended the awards ceremony in London and accepted the award on behalf of the team.

Dr Mahaveer said: "I am incredibly proud to be part of the team who made this study a reality and to be recognised at this year’s New Statesman Positive Impact Awards. It’s an honour to accept the award on behalf of the team, knowing the work we have put into delivering this research will truly make a difference to hundreds of babies’ lives each year.

“As a doctor dealing daily with infection, my main concern was how easy and quickly the test was to conduct, as it’s important that we do not delay antibiotic treatment. Our experience of using this test has been very positive. It’s straight-forward, non-invasive and will have a huge impact on our patients’ lives.”

Professor Newman, Theme Co-Lead Lead for Rare Conditions, National Institute for Health and Care Research, 91ֱ�� Biomedical Research Centre, continued: “I am absolutely thrilled with the success of the study and that this test is now being used in routine clinical practice. This test will make a real difference, helping to ensure babies are not going to lose their hearing for a preventable reason.”

It is expected the test could save the NHS £5 million every year by reducing the need for other interventions, such as cochlear implants.

Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics in the NHS said: “This ground-breaking bedside test for detecting whether an antibiotic could cause deafness in babies in intensive care is another example of how the NHS is harnessing the power of genomic medicine to transform patient care. This award is a tribute to the hard work of Professor Bill Newman and his team in 91ֱ��.”

Dr Gino Miele, R&D Director, genedrive plc, said: “The collaboration of our company with the research and clinical team at MFT is a shining example of the NHS working with a commercial company to deliver real improvements in patient outcomes in a cost-effective way.”

Caption: Rachel James, Senior Research Coordinator; Nicola Booth, Research Nurse Manager, Newborn Intensive Care Unit and Dr Ajit Mahaveer, Consultant Neonatologist at Saint Mary’s Hospital, part of MFT receiving the award on behalf of the PALOH team. (Photo credit: New Statesman Positive Impact Awards)

Spotlight on Dementia challenges researchers funded by the charity to showcase their vital work through creative images and video. Entries explored diverse topics such as detecting dementia using virtual reality, the impact of young-onset dementia on people’s careers, and the potential involvement of the brain’s immune system in the processes behind dementia.

Dr Emma Ferguson-Coleman is a Research Fellow at the University of Manchester and is being funded by Alzheimer’s Society for her current research study into the support needs of Deaf carers who care for people with dementia.

Emma won the Research in Motion category for her video called Losing my Language, which is about Deaf man who has been living with dementia for a few years. In this video, which is composed from qualitative research data after she interviewed a native BSL Deaf man and his family members, the actor representing the Deaf man shares his perception of living with dementia and what the future might mean for him. This is portrayed in a moment where he uses one sign (rather than a few full sentences in BSL) to describe his in-depth emotions about the possibility of fading away as a person and losing his language, BSL.

Emma said about winning the Research in Motion category: “It’s an absolute honour for me to see the story of Harold and his family represented in the wider mainstream – it is amazing.

‘As a Deaf BSL user myself, I am privileged to represent the stories of Deaf people living with dementia and their carers

‘This video took about three months to develop. I contacted Ilan (ILAN) Dwek (a famous Deaf actor) and discussed this conversation with him; sharing a video of myself mimicking Harold’s signs (for the purpose of research confidentiality) and Ilan filmed himself at home representing Harold’s story. Ilan did an amazing job in reflecting Harold’s emotions. 

‘It was critical that Ilan was able to represent Harold’s position in all its’ entirety. If Ilan had just signed the one sign, there would be no context and no appreciation of the many layers of emotion that Harold was portraying in that moment.

‘I hope that from seeing this brief film, that the wider mainstream community come to understand and appreciate the rich complexities of communicating in BSL, especially with a Deaf BSL user living with dementia. This film will raise awareness of this minority community that use BSL as their first or preferred language and hopefully remove barriers in learning how to communicate either in BSL, or with a BSL interpreter to assist with two-way conversations.”

Emma entered academia as a research assistant in 2010 and studied for her PhD between 2010-2016. Her PhD was focussed on Deaf British Sign Language (BSL) users’ understanding and knowledge of dementia, as well as interviewing, for the first time, Deaf BSL users living with dementia with their carers about their everyday experiences.

Emma also has a personal link to dementia as her grandmother lived with vascular dementia after having had a stroke.

Dr Richard Oakley, Associate Director of Research at Alzheimer’s Society, said:

“Spotlight on Dementia brings together science and art to reveal the wonder and variety of the research we fund. Each breath-taking entry tells a different story about the drive and enthusiasm of our stellar researchers working across dementia diagnosis, treatment and care.

“Alzheimer’s Society is a vital source of support and a powerful force for change for people with dementia. The charity only funds the most cutting-edge dementia research and currently we fund over 155 projects worth over £29.5m. We do this because we know research will beat dementia and improve the lives of people affected by the condition.

“Times are hard at the moment, but more funding is desperately needed to help us find breakthroughs and a cure. Decades of underfunding mean dementia research lags about twenty years behind the progress we’ve made in cancer, and we’re still waiting for the Government to act on its commitment over two years ago to double dementia research funding.”

17 hi-res photos from the overall winners and Emma’s video is available *

Taking just 25 minutes, the bedside machine identifies whether a critically ill baby admitted to intensive care has a gene that could result in permanent hearing loss if they are treated with a common emergency antibiotic.

The new swab test technique would replace a test that traditionally took several days and could save the hearing of 180 babies in England alone every year.

People admitted to intensive care are usually given an antibiotic called Gentamicin within 60 minutes. While Gentamicin is used to safely treat about 100,000 babies a year, one in 500 babies carry the gene that can make it cause permanent hearing loss.

Developed in 91ֱ��, the new test means that babies found to have the genetic variant can be given an alternative antibiotic within the ‘golden hour.’

It is expected the test could save the NHS £5 million every year by reducing the need for other interventions, such as cochlear implants.

First-year nursing student Mary, from Preston, is mother to 18-month-old Khobi, who was born and treated at Saint Mary’s Hospital, part of Manchester University NHS Foundation Trust.

Mary said: “Khobi was born with her bowel outside her tummy, which put her at risk of infection - she needed antibiotics quickly but was given this new genetic test which showed she was susceptible to hearing loss from gentamicin.

“She was given an alternative antibiotic which didn’t affect her hearing, and it worked well. She’s doing fine and is such a happy, sociable baby.

“This test is great, and I think all babies should have it.”

NHS national medical director Stephen Powis said: “The successful trial of this bedside test is fantastic news for the hundreds of babies - and their parents - who would otherwise lose their hearing when given this common antibiotic in intensive care situations.

“Through world-class innovation, the NHS is delivering cutting edge treatments to save and improve patients’ lives as well as delivering on the commitments of the NHS Long Term Plan.”

Professor Bill Newman, a consultant in genomic medicine at 91ֱ�� University NHS Foundation Trust and Professor of Translational Genomic Medicine at the University of Manchester, led the Pharmacogenetics to Avoid Loss of Hearing (PALoH) study. He said: “I am absolutely thrilled with the success of the study, and that this testing is now going to be used in three of our Trust’s Neonatal Intensive Care Units -  it’s actually going to make a real difference so babies are not going to lose their hearing for a preventable reason.

“The trial demonstrated that you can deploy rapid genetic testing in a clinical setting, and that the tests can be carried out within the ‘golden hour’ when severely unwell babies should be treated with antibiotics.”

Following the completion of the ground-breaking study, the NHS Genomic Medicine Service Alliance and the NHS will be exploring how this technology can be launched as part of a clinical service through the NHS Genomic Medicine Service.

Around 300 nurses are being trained to use the machine across MFT at Saint Mary’s Hospital, Wythenshawe Hospital, and North 91ֱ�� General Hospital, and the test is expected to be routinely used in all the hospitals’ neonatal units within weeks, which are part of Saint Mary’s Managed Clinical Service within the Trust.

Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics in the NHS, said: “Genomic medicine is transforming healthcare, and this is a powerful example of how genetic testing can now be done extremely quickly and become a vital part of triage - not only in intensive care but across our services.

“It also shows the importance of thinking about how advances in technology can rapidly transform how we use genomics closer to care for our patients.”

Professor Newman, who is Associate Lead, Hearing Health Genomic Solutions at NIHR 91ֱ�� Biomedical Research Centre (BRC), said the team had successfully transferred the accuracy of the machine in the lab to working effectively in a ward. At the same time, clinicians adapted quickly to incorporate the test into their routine care for very sick children in the neonatal ward.

The idea for the test came five years ago, and trials started in 2020 with further adaptations and fine-tuning so that the current machine, which is called the Genedrive System, is now fully CE certified to be used in a clinical setting.

91ֱ�� – the top-ranked paediatrics journal in the world – last week.

Backed by £900,000 funding from the National Institute for Health Research (NIHR) and support from the charity Royal National Institute for Deaf People, the Genedrive System, which costs £80 per baby, was developed by Genedrive, a start-up based at the University of Manchester. It was developed in close collaboration with Professor Newman’s team at 91ֱ�� Biomedical Research Centre.

Mike Hobday, Director of Policy and Campaigns at the National Deaf Children’s Society, said: “The National Deaf Children’s Society welcomes the publication of this important study. The introduction of a rapid test to identify susceptibility to deafness caused by the antibiotic gentamicin will be greatly valued by many families of newborn babies.

“Up to now the genetic test has taken too long to return from the lab to be useful for babies requiring urgent treatment but a rapid test will be a game-changer.”

David Budd, CEO of Genedrive, said: “There is a significant drive within the NHS to alert healthcare professionals to the impact of antibiotic-induced hearing loss and encourage them to consider genetic testing prior to initiation of treatment. 

“It’s a great example of using human genetics to guide specific therapy, which is now taking front and centre in clinical management globally. The application of Genedrive’s technology shows how a rapid, affordable, point-of-care test could impact patients’ treatment and quality of life across this as well as a wide range of fields.”