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Funding boost for Birmingham rare disease research

BHP founder-member the University of Birmingham has been awarded a £500k Pathfinder Award from the medical research charity LifeArc which will support early-stage projects with a focus on translational development in rare diseases.

The successful projects have now been announced following an internal selection process. Research, conducted by the University of Birmingham and working across Birmingham Health Partners, will begin this spring.

Professor Timothy Barrett, Director of the Centre for Rare Disease Studies (CRDS) Birmingham, commented: “I am thrilled that our Centre for Rare Disease Studies at the University of Birmingham has been successful in securing a LifeArc Pathfinder Award. We are working closely with other organisations from Birmingham Health Partners; Birmingham Children’s and Women’s Hospital and University Hospitals Birmingham; to fund a number of impactful translational research projects through the fund. Our uniquely diverse patient population, and strength in partnership ensures that we are in the best possible position to drive forward research in rare diseases to accelerate progress and ultimately improve patients’ lives.”

Around the world, approximately 300 million people are living with a rare disease. A disease is considered rare if it affects less than 1 in 2000 people. Around 80% of rare diseases have a genetic component. They are often chronic, progressive, degenerative and frequently life-threatening with no existing cure.

Owing to the nature of rare disease, small patient populations make research challenging. Lack of scientific knowledge and quality of information on rare diseases can mean that misdiagnosis is common and treatment options may be limited.

The Centre for Rare Disease Studies supports basic and applied research, in order to build a pipeline of translational research from gene discovery to improving the diagnosis, clinical management and treatment of these disorders.

Research projects that will benefit from the Pathfinder Award include:

      • The NEEDED Study (NanoporE Enhances Diagnosis in rarE Disease), led by Dr Hannah Titheradge, which will investigate the effectiveness of a new type of genome sequencing to identify rare diseases.
      • A proof-of concept study, led by Dr Nekisa Zakeri, which aims to develop a novel ‘off-the-shelf’ T cell immunotherapy capable of providing more effective treatment for patients with a rare liver cancer.
      • The CATCH Study (CArbalivefor the Treatment of CHoleastic Disease), led by Dr Palak Trivedi, looks into whether a new medical device can absorb toxins from the gut to reduce inflammation and scarring in primary sclerosing cholangitis; a rare progressive liver disorder for which no medical treatment has been shown to slow disease progression.
      • Dr Richard Tuxworth and Professor Zubair Ahmed, whose research in DNA damage in nerve cells has already resulted in patent applications covering pathways and mechanisms that could provide new therapies for neurological conditions and spinal cord injury, will now work with Professor Andrew Beggs and Dr Chiara Bardella to investigate the potential for one of these pathways (the ATM-Chk-2 pathway) as a basis for therapies to tackle rare neurological conditions that appear early in childhood.
      • Dr Sovan Sarkar’s study aims to improve the health of patients with rare childhood-onset forms of neurodegeneration by correcting the process of autophagy that normally removes undesirable cellular materials which is detrimental to brain cells called neurons.

Dr Hannah Titheradge, a Consultant in Clinical Genetics at Birmingham Women’s and Children’s NHS Foundation Trust, will investigate the effectiveness of nanopore sequencing – a new type of real time genome sequencing – on a larger group of patients. Previously tested on a very small sample, this new technology showed promise for improving our capability to diagnose rare diseases.

Nanopore sequencing reads more letters in an individual’s genome than the standard sequencing method used to diagnose rare genetic disorders. The NEEDED Study (NanoporE Enhances Diagnosis in rarE Disease) will explore a more detailed approach that could improve the percentage of patients who receive an important genetic diagnosis, which can help those patients and their families face their challenges feeling better informed.

Dr Hannah Titheradge commented: “Receiving a diagnosis can be an uphill challenge for patients with rare diseases and their families. These individuals often wait years for a final diagnosis, having undergone multiple tests and procedures. Having a diagnosis is very important because it helps these individuals better understand their health problems and plan for the future. Some genetic conditions are treatable, and a diagnosis is the first step towards accessing these treatments. We can also understand whether any other family members’ health may be affected. For these reasons, any advance that can be made in improving rare disease diagnostics is invaluable.”

Samira Fakire, Business Manager at LifeArc, added: “We hope that the Pathfinder Award will encourage more researchers to move into the rare disease space and promote the development of a translational culture – pushing more discoveries from the lab into meaningful real-world benefits for patients.”

BHP invests £300k in innovative service improvement projects

Birmingham Health Partners (BHP), the second city’s University-NHS partnership, has announced the inaugural recipients of its Seed Fund programme, awarding more than £300,000 to four projects across physiotherapy, drug delivery, perinatal care and ophthalmology.

Launched in 2022, the BHP Seed Fund is designed to support clinical academics and early-career researchers to develop, refine and implement projects which address local health burdens or system challenges. The fund enables interdisciplinary research, aiming to develop service improvements which can have rapid impact on patient experience and outcomes, and which can also be rolled out to other NHS Trusts. With funding contributed by its three founding members – the University of Birmingham, Birmingham Women’s and Children’s Hospitals, and University Hospitals Birmingham – the Seed Fund supports BHP’s culture of embedding research into everyday clinical and healthcare practice.

The successful projects are:

      • Testing a variety of interventions to reduce avoidable readmission to acute hospital care after hip fracture;
      • Developing a novel drug delivery device to reduce recurrence of sarcoma (bone and soft tissue cancer);
      • Reducing racial and ethnic inequalities and improving perinatal outcomes using health data;
      • Developing an Ocular Infection reference database to deal with common eye conditions.

The judging panel were impressed by the scope and variety of all the proposals submitted, noting the particular benefits of the successful projects in terms of patient outcome and cost-effectiveness for the NHS. The projects also demonstrated a clear link back to the five priority themes which have been identified for the West Midlands by BHP in collaboration with local NHS Trusts, namely: health data and AI; engineering into health settings; sustainability; health inequalities; and health systems and evaluation.

Dr Emma Sutton, a clinical-academic physiotherapist at BHP founder-member University Hospitals Birmingham NHS Foundation Trust is one of the awardees and commented: “I am absolutely thrilled to be conducting this important piece of work alongside a fantastic steering group which includes orthogeriatricians, geriatricians, surgeons, methodologists, nurses, physiotherapists, pharmacists, data experts, quality improvement experts and patients. We are all passionate about the care of older people, and we are driven to improve care so that when a person who experiences a hip fracture goes home, they only return to hospital within the first month if it is appropriate and necessary. Working out which re-admissions to hospital are avoidable is crucial, because when an older person is re-admitted to hospital, they are at risk of much poorer outcomes (such as being discharged to residential care instead of their own home). We hope to find a way to identify which readmissions are avoidable, and identify which systems and support could be put in place to ensure that the root causes of these avoidable re-admissions can be tackled.”

Tim Pile, Chair of BHP member the Royal Orthopaedic Hospital, led the judging panel and commented: “In its inaugural year, the BHP Seed Fund received a very high standard of applications, attracting a wide range of proposals from across the partnership. Our awardees all demonstrated tangible patient benefit and excellent potential to scale up and roll out to other Trusts. As each project now begins to move from proof-of-concept through to implementation, we’ll be on hand to provide support and mentoring throughout.”

Applications for future rounds of the Seed Fund and key dates will be posted at www.birminghamhealthpartners.co.uk/bhp-seed-fund/

The BHP Starter Fellowship – a catch-up with Karl

Karl Payne

Dr Karl Payne is currently an NIHR funded Academic Clinical Lecturer in Oral & Maxillofacial Surgery and a Surgical Trainee in the West Midlands. He undertook a Birmingham Health Partners Starter Fellowship in 2018 – 2019 and, having shared his thoughts with us soon after completing his fellowship, is back to update us on his progress in the years since.

When we last spoke to you, you’d just completed your BHP Fellowship and had ‘taken a gamble’ to use it as the first year of your PhD. What is your research topic and how are you progressing?

My research topic continues to be focused on a liquid biopsy in head and neck cancer. Specifically using a simple blood test to detect tumour specific markers that can could pick up recurrence or metastasis earlier than conventional methods, and hopefully direct treatment in these groups. I’ve been using a novel platform to capture circulating tumour cells and do multi-plex proteomic analysis. For the first time we can interrogate up to 44 proteins on cancer cells derived from a patients blood, far beyond current standards. We are progressing well. I’ve run my first pilot cohort and we are planning a larger trial also incorporating genomic assessment of circulating tumour DNA. I’m excited, but then I would be, it’s my project!….

Do you feel the fellowship was advantageous to you in your PhD, compared with a traditional route? 

Firstly, it’s always advantageous to be paid! That might sound a bit clichéd, but any salary-funded fellowship buys you the opportunity to spend time doing research outside of clinical training. I think what sets the BHP fellowship apart is the integration within existing clinical academic pathways, while also recognising the need to support those aspiring academics who haven’t been able to get an academic post in their training but need that first bit of help to get some pilot data.

It depends what route you are taking and which specialty, but certainly in surgery it was invaluable to have that first year funded to be able to get another grant. I was successful in achieving a CRUK funded clinical doctoral fellowship – which I wouldn’t have got without the BHP fellowship. The support and training was great, but you only get out what you put in – really it gives you the chance to really spend time on your research and make connections within the University. I think there could be a bit more peer-to-peer mentorship, but we are working on that so watch this space!

Has the Fellowship helped with any challenges you might have experienced while completing your PhD?

Getting your first research fellowship or grant is really hard. I failed several times before being successful with the BHP fellowship. So the best thing I got from the fellowship was the confidence that I could make my project work and that others believed in me and my research. My first year in basic science research was challenging, so the fellowship taught me a bit of resilience and determination.

Has the Fellowship benefited your career or opened up other opportunities besides the PhD?

Any career is a constant progression, and none more so than a clinical academic career. These days when I talk to students, I try and make them understand that its not just about climbing the ladder, it is about enjoying each rung and getting the most out of each stage of your training. I view my PhD as a continuum of the BHP fellowship, and indeed my training as a whole. While we all want a good paper from our PhD, it isn’t really about what you’ve done or discovered, it is about your journey and learning from mistakes on the road to research independence. In that sense the fellowship has enormously benefited my career, but its only a piece in a big puzzle and I’ve been learning along the way. Although, it has to be said, I didn’t know that at the start so my focus at the time was to get maximum research output from one year and move on – that attitude has now changed.

What do you plan to do next?

I finished my PhD a few months ago and I have just started an NIHR-funded Academic Clinical Lecturer post in the University. This allows me to spend half my time on research, while still getting the chance to operate and complete my training. I’ve always been interested in teaching and training, so I am always trying to help others and give something back to the programme.

Last time we asked what advice you’d give to someone applying for the fellowship. This time, what advice would you give to someone on the programme – how should they prepare for their post-fellowship career?

  1. Plan ahead, BUT not too far ahead. Don’t lose sight of the short-term goals you need to achieve.
  2. Having said that, always start planning ahead early!
  3. The project you start with, either a fellowship or PhD, will likely not be the one you finish with. Things will almost certainly go wrong, so have a plan B, C, D….
  4. Finally, take the time to make friends and nurture research connections within the University. Both at your level and mentors just above you. Research is always a team effort.

Two BHP members deepen collaboration to improve health provision

Aston University and Birmingham Women’s and Children’s NHS Foundation Trust (BWC) – both members of BHP – have deepened their strategic relationship by signing a Memorandum of Understanding to co-develop paediatric health initiatives.

The MoU also aims to develop the health services workforce of the future together, with a specific focus on course development and delivery, including placements. It will invest in shared posts that enable closer links between academia, education and healthcare provision, while also supporting honorary appointments and initiating collaborative projects to develop world-leading research and provision in the field of paediatric health and wellbeing.

Professor Aleks Subic, Vice-chancellor, Raffaela Goodby, BWC Chief People Officer (front row) sign the MoU, accompanied by colleagues from both organisations

The partnership will make the most efficient use of resources and reduce duplication by providing a range of shared services, as well as continuously developing new ways to work together, with a view to supporting innovation in the field of healthcare.

These activities will build on the existing joined up work taking place between Aston University and BWC via BHP, such as shared use of the MRI scanning services in the Aston Institute for Health and Neurodevelopment and joint research projects examining topics including epilepsy in children, eating behaviours and neurodevelopment.

Professor Anthony Hilton, pro-vice-chancellor and executive dean of the College of Health and Life Sciences at Aston University, said: “The signing of this Memorandum of Understanding formalises the existing relationship between our two organisations and represents a strong joint commitment to improving healthcare provision in our city.

“Working collaboratively enables us to bring together world-leading research with outstanding clinical provision, for the benefit of our students, patients accessing BWC services and our city and region. I look forward to developing the many ways in which our organisations can work together to improve healthcare provision in Birmingham.”

Matthew Boazman, deputy chief executive officer of BWC, said: “The partnership between BWC and Aston University represents a wonderful opportunity for us to ensure that Birmingham has access to world-class healthcare provision and that those entering the workforce are as ready as they can be.”

Birmingham partnership creates next generation of childhood cancer researchers

A groundbreaking local partnership has been announced in the UK’s fight against childhood cancer. Two BHP founder-members – Birmingham Children’s Hospital Charity and the University of Birmingham – have joined forces with The Azaylia Foundation to create the next generation of leaders in childhood cancer, collectively committing over £560,000 to co-fund two clinical PhDs in paediatric oncology.

Five new cases of childhood cancer are diagnosed every day, yet it receives less than 3% of all cancer research funding. This much-needed investment into the Azaylia Childhood Cancer PhD Fund will provide expert clinicians with the opportunity to undertake groundbreaking, world-class research into the early diagnosis of childhood cancer and more importantly find new and kinder treatments to improve survival rates.

Professor Pamela Kearns, Professor of Clinical Paediatric Oncology at University of Birmingham and Honorary Consultant Paediatric Oncologist at Birmingham Children’s Hospital, said: “We’re delighted to have funded the first two Azaylia childhood cancer clinical PhD scholars in paediatric oncology, thanks to an outstanding gift of over £280,000 from The Azaylia Foundation, which has been match-funded by University of Birmingham and Birmingham Children’s Hospital Charity. Parents always want to know, ‘why did my child get cancer?’ and ‘can you cure my child?’ we are now in a strong position to extensively research the answers to these questions.”

Mark Brider, CEO of Birmingham Children’s Hospital Charity, said: “Research into childhood cancer is essential to improve survival rates and discover safer treatments. It is an honour to partner with both our friends at University of Birmingham and The Azaylia Foundation to co-fund these much-needed paediatric oncology clinical PhD roles. Our collaboration will help create the next generation of leaders in childhood cancer and positively change the experiences and outcomes for our brave patients and families.”

Dr Anindita Roy, a trustee for The Azaylia Foundation and Associate Professor of Paediatric Haematology at the University of Oxford, added: “Paediatric oncology clinician scientists are rare. The Azaylia Childhood Cancer PhD Fund is a hugely positive step in facilitating change as now those who have seen first-hand the devastating realities faced by young cancer patients will be able to take their insights and ideas into the laboratory and then back into clinical practice.”

The launch of the Azaylia Childhood Cancer PhD Fund celebrates the one-year anniversary of The Azaylia Foundation, a charitable organisation created by ex-footballer Ashley Cain and Safiyya Vorajee following the tragic passing of their daughter, Azaylia Diamond Cain, of leukaemia in April 2021. The Azaylia Foundation’s immediate ambition is to help fund up to 10 clinical PhDs across the UK within two years.

Safiyya Vorajee, left, and Ashley Cain, right, with members of the BWC paediatric oncology team

“Born well, live well, die well” – BHP publishes report of activity 2020-2022

Following the expansion of its membership with three new partners, BHP has published its first report of activity covering September 2020 to August 2022.

Download the Birmingham Health Partners Report of Activity 2020 to 2022 pdf (4MB)

In publishing this report for our member institutions, stakeholders and influencers in the West Midlands and further afield, BHP highlights its progress in aligning the strategic objectives of its NHS and university partners to address major health challenges faced by the Midlands region and beyond.

Ed Smith, BHP’s chair, commented: “Our starting point has been to create a values-based partnership with key organisations in the city-region that allows us to deploy our research, innovation and healthcare capabilities to deal with major health issues. The problems encountered by the large socially- and ethnically-diverse population of the Birmingham region are similar to those faced nationally and globally, with health inequalities – driven by social determinants – leading to multimorbidity and chronic physical and mental ill-health.

“To address such deep-seated problems, it is increasingly recognised that we need health science clusters, based in large regional populations, that harness research and innovation to patient care. By integrating shared capabilities unselfishly and collaboratively, BHP is forming a powerful regional cluster to address health inequalities while also driving economic development – thereby contributing to both UK and global knowledge-based outcomes.”

Professor David Adams, Director BHP, added: “We hope that readers of this report will understand both the role played by BHP and the opportunities the partnership provides to support health innovation in our region. We aim to enhance the endeavours of individuals, teams and organisations by focussing on collaborating across institutional boundaries.

“As this report sets out, we have made substantial contributions over the last year including on training, funding, and health data and digital delivery. We are also proud of our convening role which brings together wide-ranging multidisciplinary expertise to deliver research that matters for our population and which promotes a wider innovation landscape.”

    Download the Birmingham Health Partners Report of Activity 2020 to 2022 pdf (4MB)