��Ī - Department of Paediatrics

Professor David Rowitch elected to US National Academy of Medicine

cjb250 — Mon, 21 Oct 2024 15:30:33 +0000

Election to the Academy is considered one of the highest honours in the fields of health and medicine and recognises individuals who have demonstrated outstanding professional achievement and commitment to service.

“It is a great honour to have been elected to the National Academy of Medicine,” said Professor Rowitch.

Professor Rowitch obtained his PhD from the ��Ī. His research in the field of developmental neurobiology has focused on glial cells that comprise the ‘white matter’ of the human brain. It has furthered understanding human neonatal brain development as well as white matter injury in premature infants, multiple sclerosis and leukodystrophy. Amongst numerous awards, he was elected a Fellow of the Academy of Medical Sciences in 2018 and Fellow of the Royal Society in 2021.

Professor Rowitch’s current interest focuses on functional genomic technologies to better diagnose and treat rare neurogenetic disorders in children. He is academic lead for the new ��Ī Children’s Hospital, developing integrated paediatric physical-mental healthcare and research within the NHS and ��Ī.

NAM President Victor J. Dzau said: “This class of new members represents the most exceptional researchers and leaders in health and medicine, who have made significant breakthroughs, led the response to major public health challenges, and advanced health equity.

“Their expertise will be necessary to supporting NAM’s work to address the pressing health and scientific challenges we face today. It is my privilege to welcome these esteemed individuals to the National Academy of Medicine.”

Professor Rowitch is one of 90 regular members and 10 international members announced during the Academy’s annual meeting. New members are elected by current members through a process that recognises individuals who have made major contributions to the advancement of the medical sciences, health care, and public health.

Professor David Rowitch, Head of the Department of Paediatrics at the ��Ī, has been elected to the prestigious National Academy of Medicine in the USA.

Professor David Rowitch

The text in this work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. Images, including our videos, are Copyright ©��Ī and licensors/contributors as identified. All rights reserved. We make our image and video content available in a number of ways – on our main website under its Terms and conditions, and on a range of channels including social media that permit your use and sharing of our content under their respective Terms.

Yes

Cutting-edge genomic test can improve care of children with cancer

Anonymous — Tue, 02 Jul 2024 09:00:37 +0000

The study, published on 2 July in Nature Medicine, is the first time that the impact of using whole genome sequencing in current NHS practice has been assessed. It was led by researchers at the ��Ī, ��Ī University Hospitals NHS Trust, Wellcome Sanger Institute and Great Ormond Street Hospital.

The team analysed the use of routine genome sequencing, through the NHS Genomic Medicine Service, at ��Ī University Hospitals, where such tests are given to all children with solid tumours, and at Great Ormond Street Hospital, which provides the test for childhood leukaemia.

The researchers found that cancer sequencing gave new insights that improved the immediate clinical care of seven per cent of children, while also providing all the benefits of current standard tests.

Furthermore, in 29 per cent of cases, genome sequencing provided additional information that helped clinicians better understand the tumours of individual children and informed future management. For example, uncovering unexpected mutations that increase future cancer risk leading to preventative measures being taken, such as regular screening.

Overall, whole genome sequencing provides additional, relevant data, about childhood cancer that is useful for informing practice. The results also show that it can reduce the number of tests required, and therefore, researchers suggest it should be provided to all children impacted by cancer.

Whole genome sequencing (WGS) is a single test that provides a complete readout of the entire genetic code of the tumour and identifies every single cancer-causing mutation. Comparatively, traditional standard-of-care tests only look at tiny regions of the cancer genome, and therefore many more tests are often required per child.

Professor Sam Behjati, senior author from the Wellcome Sanger Institute, ��Ī University Hospitals, and the ��Ī: “Whole genome sequencing provides the gold standard, most comprehensive and cutting edge view of cancer. What was once a research tool that the Sanger Institute started exploring over a decade ago, has now become a clinical test that I can offer to my patients. This is a powerful example of the genomic data revolution of healthcare that enables us to provide better, individualised care for children with cancer.”

NHS England is one of the few health services in the world that has a national initiative, through the Genomic Medicine Service, offering universal genome sequencing to every child with suspected cancer. However, due to multiple barriers and a lack of evidence from real-time practice supporting its use, whole cancer genome sequencing is not yet widespread practice.

The latest study looked at 281 children with suspected cancer across the two units. The team analysed the clinical and diagnostic information across these units and assessed how genome sequencing affected the care of children with cancer.

They found that WGS changed the clinical management in seven per cent of cases, improving care for 20 children, by providing information that is not possible to acquire from standard of care tests.

Additionally, WGS faithfully reproduced every one of the 738 standard of care tests utilised in these 281 cases, suggesting that a single WGS test could replace the multiple tests that the NHS currently uses if this is shown to be economically viable.

WGS provides a detailed insight into rare cancers, for example, by revealing novel variants of cancer. The widespread use of genome sequencing will enable clinicians to access these insights for individual patients while simultaneously building a powerful shared genomic resource for research into new treatment targets, possible prevention strategies, and the origins of cancer.

Dr Jack Bartram, senior author from Great Ormond Street Hospital NHS Foundation Trust and the North Thames Genomic Medicine Service, said: “Childhood cancer treatment is mostly guided by genetic features of the tumour, and therefore an in-depth genetic understanding of cancer is crucial in guiding our practice. Our research shows that whole genome sequencing delivers tangible benefits above existing tests, providing better care for our patients. We hope this research really highlights why whole genome sequencing should be delivered as part of routine clinical care to all children with suspected cancer.”

Professor Behjati at the Department of Paediatrics, ��Ī, and is a Fellow of Corpus Christi College, ��Ī.

This research was supported in part by Wellcome, the Pessoa de Araujo family and the National Institute for Health and Care Research.

Reference
A Hodder, S Leiter, J Kennedy, et al. Benefits for children with suspected cancer from routine whole genome sequencing. Nature Medicine; 2 July 2024; DOI: 10.1038/s41591-024-03056-w

Adapted from a press release from Wellcome Sanger Institute

Whole genome sequencing has improved clinical care of some children with cancer in England by informing individual patient care. Research published today supports the efforts to provide genome sequencing to all children with cancer and shows how it can improve the management of care in real-time, providing more benefits than all current tests combined.

This is a powerful example of the genomic data revolution of healthcare that enables us to provide better, individualised care for children with cancer

Sam Behjati

FatCamera (Getty Images)

Boy Battling With Cancer

Eddie’s story

When he was six-years old, Eddie began to have regular low-grade fevers that seemed to affect him a lot. Even though early tests came back normal, the fevers became more frequent and his Mum, Harri, noticed that on one or two occasions he seemed out of breath while doing small things like reading a book. A chest x-ray revealed a huge mass on Eddie’s chest, and he was diagnosed with T-cell acute lymphoblastic leukemia (T-ALL). Eddie was immediately transferred to Great Ormond Street Hospital (GOSH) to begin treatment.

“I know it sounds like a cliché, but you really don’t think it will ever happen to your child. It felt like our world fell out from under us. During those first few weeks I remember wondering if this was it, I was taking so many photos of us together and wondering if it could be the last,” said Harri, Eddie's mum.

Eddie was put onto a treatment plan that included eight months of intense chemotherapy, followed by two and a half years of maintenance treatment. As part of his treatment at GOSH Eddie’s family were also offered WGS to identify any cancer-causing changes.

“When we were offered whole genome sequencing, we didn’t even hesitate. I wanted to have all the information, I wanted to have some peace of mind for the future and know that Eddie was having the right care throughout. I also wanted to make sure that Eddie’s brother, Leo, wasn’t any more likely to get T-ALL because Eddie had,” said Harri.

On his seventh birthday, Eddie’s family received the call to say he was in remission. Now, at nine years-old Eddie is nearing the end of his maintenance treatment and is doing well.

“We are trying to live each day, and this experience has really changed our outlook on life. We always try to take the positive from every situation. Words can’t explain what Eddie has been through this past three years but he has come out the other side as a sensitive, confident, and smart young man. He is mature beyond his years and he has been involved in everything, including decisions about his treatment. To say we are proud, doesn’t even come close to how we truly feel about him,” said Harri.

Their personal experience of WGS was so important on their journey that they provided support for this research.

Harri added: “I always say that having a child with a cancer diagnosis feels like you’ve been standing on a trap door all these years without knowing. Then after the diagnosis, you are in freefall. And even when things are stable again, you are constantly aware that the trap door is still there and there is a possibility it could open again at any time. Having access to whole genome sequencing gave us some sense of reassurance, it could have informed us about targeted treatments and gave us some insight into future risk. We wanted to support something that had the potential to have a real impact on treatment and outcomes so when we heard about this research project and its potential, it was very exciting that we could be a small part of it. It helped us turn something so devastating into something positive and we just hope that this research helps.”

Yes

New milestone for specialist children’s hospital in the East of England

ta385 — Thu, 12 Oct 2023 10:00:16 +0000

The Project had its Outline Business Case approved in principle by NHS England and the Department of Health and Social Care on 29 September 2023. With this approval, which is subject to a review of the Project’s capital funding in April 2024, work can now commence on the Full Business Case for the Project.

The hospital, which was awarded planning permission in March 2022, is being built on the ��Ī Biomedical Campus, but will care for children and young people across the whole of Norfolk, Suffolk, Essex, Hertfordshire, Bedfordshire and ��Īshire.

It will be the first hospital designed to truly provide mental and physical health care together, delivered by staff who are trained in both. While the hospital will be built in ��Ī it will act as a central hub, working with services all over the East of England to provide care and support for children who may never visit the hospital itself.

Dr Rob Heuschkel, ��Ī Children’s Hospital Clinical Lead for Physical Health said: “This is fantastic news for children across the East of England – the only region without a specialist children’s hospital.

“We know there is widespread support across the East of England for this Hospital – from children and their families to our regional colleagues and our regional MPs. Now is the time for us to all work together to turn our plans into reality. I can’t wait to get started on the next stage of this Project. “

The government committed £100m to ��Ī Children’s Hospital in 2018, under the Sustainability and Transformation Partnership scheme, and the project is on track to meet its target of an additional £100m of philanthropy and fundraising.

Health Minister Lord Markham said: “We are investing in over 70 major new upgrades of NHS facilities across the country so patients can access high quality care in state-of-the-art hospitals, both now and in the years to come. I’m pleased ��Ī Children’s Hospital is now starting on the final stage of its business case with construction planned to begin next year.

“Backed by £100 million of government funding, this hospital will be the first specialist children’s hospital for the East of England and will bring mental and physical healthcare services together to benefit thousands of young people.”

Dr Cathy Walsh, ��Ī Children’s Hospital Clinical Lead for Mental Health, said: “There’s a long way still to go but this is an exciting moment in our journey to building a truly integrated children’s hospital.

“Our young people urgently need a new type of care, delivered by staff who are trained in both mental and physical health care. ��Ī Children’s Hospital will completely transform the future of healthcare for children and their families from across this region.”

The hospital will also house a ��Ī world-class research facility focussed on detecting and preventing childhood illness.

Professor David Rowitch, Head of the Department of Paediatrics at the ��Ī and ��Ī Children’s Hospital Research Lead, said: “��Ī Children’s Hospital will use cutting-edge innovations in genomic science to detect origins of physical and mental health conditions and develop a new model of preventive medicine in paediatrics. We will foster game-changing breakthroughs in life sciences research that will have an impact across the globe.

“Together we can detect childhood disease early or prevent it altogether, personalise health care and deliver it closer to home.”

Members of ��Ī Children’s Hospital Network, which is made up of children, young people and parents from across the region, have been a crucial part of designing the future hospital, and helping to shape how the facility might look and feel like.

Sarah Cobb, 19 from near ��Ī, has multiple disabilities and is visually impaired. She has been involved in the Project for a number of years. She said: “As someone with lifelong health conditions, who’s spent a lot of time in hospital as a child, a teenager and now a young adult, I’m delighted that ��Ī Children’s Hospital has reached this brilliant milestone.

“I feel really honoured to be part of such an inspirational project. This hospital means so much to me and will make such a difference to the mental and physical health of children and young people in future.”

Work continues on finalising the costs and remaining funding streams for this brand new hospital. We will now start developing the final stage of the business case for ��Ī Children’s Hospital’s– the Full Business Case.

��Ī Children’s Hospital, which will be the first specialist children’s hospital for the East of England, has been given the green light to proceed to the final stage of its business case development. This means that pre-construction works can begin on the site of the new hospital, opposite the Rosie Maternity Hospital on Robinson Way, early next year.

Together we can detect childhood disease early or prevent it altogether, personalise health care and deliver it closer to home

David Rowitch

Artist's impression of the entrance to the future ��Ī Children’s Hospital

About ��Ī Children’s Hospital

��Ī Children’s Hospital will be the first hospital designed to truly provide mental and physical health care together, delivered by staff who are trained in both.

It is the first specialist children’s hospital for the East of England, the only region in the UK without one.

The hospital will fully integrate physical and mental healthcare services under one roof to provide a whole new way of caring for children and young people aged 0-19, including those with cancer.

��Ī Children’s Hospital will be a national exemplar. Housing ��Ī research institutes focused on the prevention and early diagnosis of disease, the hospital will deliver game-changing advances in life sciences research.

The hospital will be built on Europe’s leading life sciences campus, the ��Ī Biomedical Campus, and is being co-designed with the help of young people, families and healthcare professionals.

Established by ��Ī University Hospitals NHS Foundation Trust, ��Īshire and Peterborough NHS Foundation Trust and the ��Ī, the hospital is a partnership which brings together clinical expertise and world-leading knowledge.

The Campaign for ��Ī Children’s Hospital, a partnership between Addenbrooke’s Charitable Trust (ACT), Head to Toe Charity and the ��Ī (CUDAR), is committed to raising £100 million from philanthropy and fundraising.

The text in this work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. Images, including our videos, are Copyright ©��Ī and licensors/contributors as identified. All rights reserved. We make our image and video content available in a number of ways – as here, on our main website under its Terms and conditions, and on a range of channels including social media that permit your use and sharing of our content under their respective Terms.

Yes

Drinkers risk exceeding legal driving limit by underestimating how drunk they are

cjb250 — Tue, 07 Dec 2021 00:01:27 +0000

Worldwide, drunk driving is a major problem, despite decades of health promotion activities. Road traffic injuries have become the leading killer of people aged five to 29 years, and recently, the World Health Organization has said that alcohol-related traffic accidents are one of the major causes. In 2019, between 210 and 250 people were killed in accidents in Britain where at least one driver was over the drink-drive limit, the highest level since 2009.

Drinking alcohol causes significant impairment to our motor function, and the more we drink, the worse this becomes. Drunk drivers may struggle to keep their vehicle in lane and have slow reaction times, as well as being more likely to take risks.

In research published today in the Harm Reduction Journal, a team of researchers from Witten/Herdecke University and the ��Ī studied how accurately participants were able to estimate their fitness to drive after drinking alcohol.

Ninety students (average age 24 years old) took part in an experiment on two separate days. Participants were split into two groups: a study group and a control group. Both groups consumed either beer or wine or both until they reached a maximum breath alcohol concentration (BrAC) of 0.11%.

The research was carried out in Germany, where the legal driving limit is a BrAC of 0.05% (in England and Wales, the level is 0.08%).

In the study group, participants were told at the start that when they reached a BrAC of 0.05%, they would be switched from beer to wine or vice versa, though it was not explicitly explained that this was the legal driving limit.

The researchers monitored each participant’s breath alcohol concentration using breathalysers. With each measurement, they asked the participants to estimate their own breath alcohol concentration. All participants were asked to come forward when they thought they had reached the legal driving limit.

The team found that on the first study day, more than a third (39%) of participants who believed they had reached the legal driving limit had in fact already exceeded this threshold. On the second day this proportion increased to more than half (53%).

Dr Kai Hensel from Witten/Herdecke University and the ��Ī, who led the study, said: “In countries with legal alcohol limits, it’s usually the driver who makes a judgement about how much they’ve drunk and how fit they are to drive. But as we’ve shown, we are not always good at making this judgement. As many as one in two people in our study underestimated how drunk they were – and this can have devastating consequences.”

The researchers also noticed that participants became poorer at estimating their BrAC level the drunker they became. “This could have serious consequences in England and Wales, where the legal driving limit is higher, as it suggests that a significant number of people might misjudge how drunk they are and consider themselves fit to drive when in fact they have a potentially dangerously high level of alcohol in their blood,” added Dr Hensel.

To see whether people were able to improve their ability to estimate how drunk they are, the researchers compared the volunteers’ self-estimation of having reached the legal driving limit between the two study days. For the study group participants were better able to estimate how drink they were on the second day, but this was not the case for the control group.

Dr Hensel added: “Drinking and driving is a major risk fact for road traffic accidents. Anything that can be done to reduce these numbers is worth trying. With guidance, our participants were able to improve their judgement. It could be that pop-up stalls set up around drinking establishments to help people understand their breath alcohol concentration might help.

“Really, the best advice is that if you’re driving, just don’t drink. But if you really do feel like a drink, then look into your own alcohol tolerance. This differs from one person to the next, depending on your sex, weight and age, and there are some reliable apps out there that can help guide you.”

Carlsberg donated 420 litres of beer to be utilised for research purposes only, but had no role in the design, conduct, or analyses of the study.

Reference
Köchling, J et al. The hazardous (mis)perception of Self-estimated Alcohol intoxication and Fitness to drivE – an avoidable health risk: the SAFE randomised trial. Harm Reduction Journal; 7 Dec 2021; DOI: 10.1186/s12954-021-00567-4

As many as a half of all drinkers underestimated how drunk they were, judging themselves still safe to drive despite having exceeded the legal driving limit, in new research published today.

In countries with legal alcohol limits, it’s usually the driver who makes a judgement about how much they’ve drunk and how fit they are to drive. But as we’ve shown, we are not always good at making this judgement

Kai Hensel

spooky_kid

Man pouring a pint of beer

The text in this work is licensed under a Creative Commons Attribution 4.0 International License. Images, including our videos, are Copyright ©��Ī and licensors/contributors as identified. All rights reserved. We make our image and video content available in a number of ways – as here, on our main website under its Terms and conditions, and on a range of channels including social media that permit your use and sharing of our content under their respective Terms.

Yes

Licence type:

Public Domain

The Royal Society announces election of new Fellows 2021

cg605 — Thu, 06 May 2021 10:48:11 +0000

Over 60 outstanding scientists from all over the globe have joined the Royal Society as Fellows and Foreign Members. The distinguished group of scientists consists of 52 Fellows, 10 Foreign Members and one Honorary Fellow and were all selected for their exceptional contributions to science.

The Royal Society is a self-governing Fellowship made up of the most eminent scientists, engineers and technologists from the UK and the Commonwealth. Its Foreign Members are drawn from the rest of the world.

The Society’s fundamental purpose is to recognise, promote, and support excellence in science and to encourage the development and use of science for the benefit of humanity.

“The global pandemic has demonstrated the continuing importance of scientific thinking and collaboration across borders,” said President of the Royal Society, Sir Adrian Smith.

“Each Fellow and Foreign Member bring their area of scientific expertise to the Royal Society and when combined, this expertise supports the use of science for the benefit of humanity.

“Our new Fellows and Foreign Members are all at the forefronts of their fields from molecular genetics and cancer research to tropical open ecosystems and radar technology. It is an absolute pleasure and honour to have them join us.”

��Ī:

Professor Julie Ahringer FMedSci FRS

Director and a Senior Group Leader of the Gurdon Institute

Professor Ahringer has made wide-ranging contributions to molecular genetics through her work on the nematode C. elegans. She carried out the first systematic inactivation of all the genes in any animal, which pioneered genome-wide reverse genetic screening.

Her research has illuminated our understanding of the processes underlying cell polarity and gene expression. This includes showing that spindle positioning is controlled by heterotrimeric G protein signalling, discovering a connection between chromatin marking and mRNA splicing, and most recently revealing mechanisms and principles of genome organisation and gene expression regulation.

“I am honoured to be elected as a Fellow of the Royal Society,” said Ahringer. “Much of science today is done in teams, and this reflects the tremendous contributions of my past and present lab members.”

Professor Sadaf Farooqi FRCP FMedSci FRS

Wellcome Principal Research Fellow and Professor of Metabolism and Medicine, Wellcome-MRC Institute of Metabolic Science

Professor Farooqi is distinguished for her discoveries of fundamental mechanisms that control human energy homeostasis and their disruption in obesity. Farooqi discovered that the leptin-melanocortin system regulates appetite and weight in people and that genetic mutations affecting this pathway cause severe obesity. Findings by her team have directly led to diagnostic testing for genetic obesity syndromes world-wide and enabled life-saving treatment for some people with severe obesity.

Farooqi said: “As a clinician scientist, I am absolutely delighted to be elected to the Fellowship of the Royal Society. This prestigious honour recognises the work of many team members past and present, our network of collaborators across the world and the patients and their families who have contributed to our research.”

Professor Usha Goswami CBE FBA FRS

Professor of Cognitive Developmental Neuroscience, Department of Psychology, and Director of the Centre for Neuroscience in Education

Professor Goswami has pioneered the application of neuroscience to education. Her research investigates the sensory and neural basis of childhood disorders of language and literacy, which are heritable and found across languages. Goswami's research shows a shared sensory and neural basis in auditory rhythmic processing. The acoustic ‘landmarks’ for speech rhythm provide automatic triggers for aligning speech rhythms and brain rhythms, and Goswami has shown that this automatic process can be disrupted, thereby disrupting speech encoding for these children.

“It is a huge honour to be elected to the Royal Society and a wonderful acknowledgement of our research in the Centre for Neuroscience in Education,” said Goswami. “I have been interested in children's reading and language development since training as a primary school teacher, and we have used neuroscientific insights to understand the mechanisms underpinning developmental language disorders. It is fantastically rewarding for our work to be recognised in this way.”

Professor Rebecca Kilner FRS

Professor of Evolutionary Biology and Director of the University Museum of Zoology

Professor Kilner researches the evolution of animal behaviour, and how this behaviour then affects the pace and scope of subsequent evolutionary change. Using experimental evolution, her current work investigates how quickly populations can adapt when environmental conditions change.

Kilner discovered novel ways in which social behaviour drives evolutionary change. She used elegant cross-fostering experiments in birds and insects to expose how family members exert selection on each other, and discovered hidden evolutionary conflicts between parents and their offspring, and among adults caring together for offspring.

Kilner said: “I’m astonished, honoured and delighted to be elected to the Fellowship of the Royal Society. This honour is shared with everyone I have ever worked with. Science is a team effort and I’ve been incredibly lucky to collaborate with brilliant colleagues throughout my career.”

Professor David Rowitch FMedSci FRS

Professor and Head of the Department of Paediatrics, Wellcome Trust Senior Investigator

Professor Rowitch’s basic and translational research on glial cells, comprising 90% of cells in the human brain, has been transformative. Rowitch’s established how embryonic central nervous patterning specifies myelinating oligodendrocytes through essential functions of Olig2, a study that helped initiate genetic methodologies in glial biology, and how astrocyte functional diversification is critical for support of neural circuits in the spinal cord. He has applied a developmental neuroscience perspective to better understand human neonatal brain development and white matter injury in premature infants, multiple sclerosis and leukodystrophy.

Rowitch said: “It is a great honour to be elected to the Fellowship of the Royal Society, joining many of my esteemed ��Ī, and other scientific, colleagues.”

Professor Richard Samworth FRS

Professor of Statistical Science and Director of the Statistical Laboratory

Professor Samworth has made fundamental contributions to the development of modern statistical methodology and theory. His research concerns the development of statistical methods and theory to address contemporary data challenges, often posed by the large volumes of data that are routinely collected in today's Big Data era.

“I was incredibly honoured when I found out I'd been elected a Fellow of the Royal Society,” said Samworth. “It's a real thrill to become a small part of such a respected institution.”

Professor Benjamin Simons FRS

Royal Society EP Abraham Professor, Department of Applied Mathematics and Theoretical Physics and Senior Group Leader of the Gurdon Institute

As a theorist, Professor Simons has contributed to a diverse range of fields, from quantum condensed matter physics to developmental and cancer biology. His research translates concepts and approaches from statistical physics to gain predictive insights in the collective dynamics of complex systems. In biology, his studies have revealed common mechanisms of stem cell regulation, and how these programmes become subverted during the early phase of tumour growth.

Simons said: “I am delighted to be elected to the Fellowship. I hope that my election may serve to emphasise the value of multidisciplinary research that stands at the interface between physics and the life sciences.”

Wellcome Sanger Institute:

Dr Peter Campbell FMedSci FRS, Head, Cancer, Ageing, and Somatic Mutations Programme, Wellcome Sanger Institute (and Wellcome-MRC Stem Cell Institute, ��Ī).

MRC Laboratory of Molecular Biology:

Dr Christopher Tate FRS, MRC Investigator, MRC Laboratory of Molecular Biology

Dr Sjors Scheres FRS, Group Leader, Structural Studies Division, MRC Laboratory of Molecular Biology

British Antarctic Survey:

Professor Dame Jane Francis DCMG FRS, Director, British Antarctic Survey

Professor Richard Horne FRS, Head, Space Weather and Atmosphere, British Antarctic Survey

��Ī scientists are among the new Fellows announced today by the Royal Society.

Our new Fellows and Foreign Members are all at the forefronts of their fields from molecular genetics and cancer research to tropical open ecosystems and radar technology.

Sir Adrian Smith, President of the Royal Society

Yes

Gut research identifies key cellular changes associated with childhood-onset Crohn’s Disease

jg533 — Mon, 07 Dec 2020 16:00:00 +0000

The results are an important step towards better management and treatment of this devastating condition.

The research from the ��Ī and the Wellcome Sanger Institute is part of the global Human Cell Atlas initiative to map every cell type in the human body. The findings reveal intricate cellular mechanisms of how the gut develops.

Crohn’s Disease is a type of Inflammatory Bowel Disease affecting around one in every 650 people in the UK. Incidence has increased dramatically in recent decades, especially in children - who can suffer very aggressive symptoms including abdominal pain, diarrhoea and fatigue. This lifelong condition can have major life implications; the cause is not understood, treatments often don’t work, and there is no cure.

“Crohn’s Disease can be particularly aggressive and more treatment-resistant in children, so there’s a real need to understand the condition when it affects them and perhaps come up with childhood-specific treatments,” said Dr Matthias Zilbauer in the Department of Paediatrics at the ��Ī and honorary consultant in paediatric gastroenterology at Addenbrooke’s Hospital, ��Ī University Hospitals NHS Foundation Trust, who led the study.

The researchers used a cutting-edge technology called single-cell RNA sequencing to look at gene expression in individual cells of the developing human gut, six to ten weeks after conception. They focused on the inner lining of the gut, called the intestinal epithelium, and found that the cells there divide constantly at this early stage, guided by messages from other cell types. This allows the gut to grow and form the structures needed for good gut function later in life.

Tissues from the guts of children with Crohn’s Disease, aged between four and twelve, were also analysed. The study revealed that some of the cellular pathways active in the epithelium of the foetal gut appear to be reactivated in Crohn’s Disease. These pathways were not active in healthy children of a similar age. The results are published today in the journal Developmental Cell.

“Our results indicate there might be a reprogramming of specific gut cell functions in Crohn’s Disease. We don’t know whether this is the cause of the disease or a consequence of it, but either way it is an exciting step in helping us to better understand the condition,” said Zilbauer.

The findings shed light on fundamental molecular mechanisms of human gut development. The team also found that lab-grown ‘mini-guts’ undergo similar individual cellular changes to those inside a developing foetus. This implies that lab-grown models are a powerful and accurate tool for future research into very early gut development and associated diseases.

“This study is part of the international Human Cell Atlas effort to create a ‘Google map’ of the entire human body. With single-cell RNA sequencing we can look at any tissue and identify the individual cell types it’s made up of, the function of those cells, and even identify new cell types,” said Dr Sarah Teichmann at the Wellcome Sanger Institute, and co-chair of the Human Cell Atlas Organising Committee, whose expertise enabled analysis of the huge amount of data generated by this technique.

She added: “A complex tissue like the gut contains different cell types, and these ‘talk’ to each other - the function of one cell affects the function of another. That’s particularly important in the early stages of gut development, and something we can interrogate using computational analyses of single cell RNA sequencing data.”

While the study focused specifically on the dynamics of intestinal epithelial cells, it generated information on around 90,000 primary human intestinal cells of all types. The researchers have made this data openly available at www.gutcellatlas.org, creating a valuable resource for further research and drug discovery targeted at childhood Crohn’s Disease.

“From my own experience we’re diagnosing Crohn’s Disease in younger and younger children, some even under the age of five – it’s very much an emerging disease. It’s a really nasty, lifelong condition, and when children are diagnosed, the whole family is affected,” said Zilbauer.

He added: “We are determined to advance our knowledge in this area, and hopefully improve the lives of these children in the future.”

This research was supported by the Medical Research Council, Wellcome, and the Great Ormond Street Hospital Children’s Charity, Sparks. Addenbrooke’s Hospital in ��Ī is a specialist centre for the investigation and treatment of Inflammatory Bowel Disease in children, serving the east of England.

Reference
Elmentaite, R. & Ross, A. et al: ‘Single-cell sequencing of developing human gut reveals transcriptional links to childhood Crohn’s disease.’ Developmental Cell, December 2020. DOI: 10.1016/j.devcel.2020.11.010

Scientists have tracked the very early stages of human foetal gut development in incredible detail, and found specific cell functions that appear to be reactivated in the gut of children with Crohn’s Disease.

Our results indicate there might be a reprogramming of specific gut cell functions in Crohn’s Disease

Matthias Zilbauer

Kenny Roberts and Sophie Pritchard, Wellcome Sanger Institute

Emerging intestinal villi with stem cells (green) supporting their growth

Yes

World’s first artificial pancreas app licensed for people with type 1 diabetes in UK

cjb250 — Mon, 16 Mar 2020 00:39:50 +0000

The CamAPS FX app works with an insulin pump and a glucose monitor to automatically deliver insulin to people living with the condition via a complex algorithm.

Around 400,000 people in the UK are affected by type 1 diabetes, 29,000 of them children. It is a chronic, life-threatening condition that has a life-long impact on those diagnosed with it and their families. Currently, people with type 1 diabetes rely on a routine of finger-prick blood tests and insulin injections or infusions just to stay alive, because their pancreas no longer produces insulin itself.

The app - which Professor Hovorka hopes will become available on the NHS in the future - will take over much of the management of the condition. This is particularly important at night, when many people with type 1 diabetes experience potentially dangerous low blood glucose levels.

The app can also upload the user’s blood glucose measurements seamlessly to Diasend, an online platform, allowing their diabetes team to provide more personalised care.

The CamAPS FX app is backed by 13 years of clinical research carried out by Professor Hovorka and his research group at the Wellcome-MRC Institute of Metabolic Science. It is licensed for use by both adults and children with the condition and is the first artificial pancreas system to be licensed for use in pregnancy, or by young children aged one and above.

Professor Hovorka said: “This is a major stepping stone towards providing widely available, clinically proven, and user-friendly artificial pancreas technology to people with type 1 diabetes.

“Our aim is to alleviate the ever-present burden of type 1 diabetes and improve health outcomes. This is the outcome of hard work, with more to come. We are indebted to all who are helping us on this journey.”

At launch, the app will be supported by a small number of UK diabetes clinics. People who wish to use the app will need to confirm which clinic they attend, and must be using a Dana RS pump and a Dexcom G6 continuous glucose monitor.

Professor Hovorka and his research team will work to continue to bring this technology to all who need it, via the NHS. Key to this will be the generation of data to support the case for NHS provision.

The commercial launch is a milestone in the journey towards a fully automated artificial pancreas for everyone with type 1 diabetes. Such technology will fundamentally change life with the condition by working with a range of insulin pumps and glucose monitors to lift the burden of managing a condition that is relentlessly unpredictable day and night.

Professor Hovorka will continue refining the artificial pancreas through research into mealtime glucose control and improving ease of use.

The research behind the app has been funded by the type 1 diabetes charity JDRF, Diabetes UK, the National Institute for Health Research, the National Institutes of Health, Horizon 2020, and the Leona M and Harry B Helmsley Charitable Trust.

Karen Addington, UK Chief Executive of JDRF, said: “JDRF is proud to have supported Professor Hovorka’s artificial pancreas research from the beginning, nearly 15 years ago. This app is a major innovation and a significant milestone on the road to a fully automated and interoperable artificial pancreas. There’s still more work to do, but this is an exciting step.”

Fiona O’Reilly, who has been using the app as part of a clinical trial, said: “Overall, it makes me feel free. It is the closest I have been to living without the burden of type 1 diabetes since I was diagnosed, which is a fabulous feeling – I feel less fearful of hypoglycaemia, and less ashamed of the fact that I find achieving good glycaemic control so tricky.

“And it makes me feel more positive of my future with diabetes, that I have a chance of avoiding all the associated complications. It also makes me feel lucky to live in a time where this technology is possible and really grateful to be given the chance to try it out.”

The app is now available for UK users to download onto Android phones via the Amazon Appstore. The app is available on a subscription basis starting at £70 per month.

Adapted from a press release by the JDRF.

The world’s first licensed, downloadable artificial pancreas app for people with type 1 diabetes launches today, based on over a decade of research by Professor Roman Hovorka at the ��Ī and ��Ī University Hospitals NHS Foundation Trust.

This is a major stepping stone towards providing widely available, clinically proven, and user friendly artificial pancreas technology to people with type 1 diabetes

Roman Hovorka

Screenshot from CamAPS FX app

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��Ī receives £100 million for major new children’s hospital

cjb250 — Mon, 10 Dec 2018 16:14:37 +0000

Built on land adjacent to Addenbrooke’s and the Rosie Hospitals, the children’s hospital will bring together some of the world’s top scientists to explore new ways of diagnosing and treating some of the most challenging diseases of childhood. Mapping the whole human genome and understanding the genetic basis of disease and recovery is central to the hospital’s vision. It aims to make an important contribution globally to the development of children’s healthcare while providing world class care for families in the east of England.

The project is a partnership involving ��Ī University Hospitals (CUH) NHS Foundation Trust, ��Īshire and Peterborough NHS Foundation Trust and the ��Ī. The development is a major part of the strategy to invest in world class facilities led by the Sustainability and Transformation Partnership for ��Īshire and Peterborough.

The Vice-Chancellor of the ��Ī, Professor Stephen Toope, said: “The announcement from the Secretary of State is extremely positive. It is not only an investment in the research and clinical expertise in ��Ī but, importantly, it is an investment in the future of our children and young people. By helping us to improve how we treat those young people unfortunate enough to be affected by serious childhood diseases, the new hospital has the potential to transform the provision of healthcare for families in the East of England.”

Patrick Maxwell, Regius Professor of Physic and Head of the School of Clinical Medicine, said: “This is a welcome and very significant investment from the government. The new children’s hospital will bring together clinical and research expertise from across ��Ī, enabling us to make a major difference to the health of young people across the East of England and, through our research, throughout the UK and beyond.”

Professor David Rowitch from the Department of Paediatrics at the ��Ī added: “It is time to bridge the divide between physical and mental health and move away from silo working. With strengths across the board from genomics to complex medical care, child and adolescent psychiatry, ��Ī is perfectly positioned to lead by example.”

The announcement has also been welcomed by the chief executives of the two NHS trusts involved. Roland Sinker, CUH chief executive, described the announcement as “a tribute to our outstanding staff who care for very poorly children day in day out in facilities that currently are not reflecting the world class service we provide”. Tracy Dowling, chief executive of ��Īshire and Peterborough NHS Foundation Trust, which provides mental health services for young people and adults as well as physical health services for older people and those with long-term conditions, said the new hospital would provide “the most incredible opportunity” to bring together physical and mental health services under one roof.

Adapted from a news story from CUH.

The Secretary of State for Health and Social Care, Matt Hancock, has announced up to £100 million of public capital for an innovative children’s hospital for the east of England. This will be a new facility that is purpose-built to meet the needs of the region’s youngest patients, integrating mental and physical health and combining the highest quality services with world class science and research.

It is not only an investment in the research and clinical expertise in ��Ī but, importantly, it is an investment in the future of our children and young people

Professor Stephen Toope

Margaret Weir

Children playing

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