Research and grants

Amyloidosis is a rare disease caused by the build-up of one or other of the body’s own proteins in the form of insoluble abnormal fibres, called amyloid fibrils. The amyloid deposits progressively damage the structure and function of the affected parts of the body and can lead to life-threatening organ failure.

The UK NHS National Amyloidosis Centre at the Royal Free Hospital is the only centre in the UK specialising in amyloidosis and one of the world’s leading centres for amyloid research.

You can support this research by making a donation or through fundraising – set up your fundraising page to support Amyloidosis Research here.

Read more about Amyloidosis Research

The PEM (Positron Emission Mammography) machine, purchased thanks to a generous donor makes earlier detection of breast cancer easier. The PEM is particularly useful in younger patients with dense breasts, when it is often harder to detect cancer using a mammogram. The PEM is also more comfortable for patients as there is no breast compression involved; the patient just has to lie face down.

It is a useful diagnostic tool. Patients who are screened using the PEM are also helping with high quality clinical research and the data and results are analysed which help improve diagnosis and treatment for future patients.

Haemophilia refers to a group of hereditary blood disorders that prevent the body from properly controlling blood clotting or coagulation. Patients with these blood disorders can experience a wide range of haemophilia symptoms, such as vitamin deficiencies and prolonged bleeding. Through research treatment the survival rate of patients has transformed from 10yrs to a normal life expectancy.

The Katharine Dormandy Haemophilia and Thrombosis Centre is a comprehensive care centre providing a range of services for patients with haemophilia, von Willebrand’s disease, other inherited coagulation factor deficiencies and inherited platelet disorders.

Research into HIV is creating breakthrough treatments which have transformed the lives of HIV diagnosed patients over recent years. Through the Ian Charleson Day Centre (ICDC) patients receive support and testing while advanced research translates into advanced diagnosis and care.

Over 3,000 patients regularly attend the ICDC. The centre runs specialist consultant-led clinics, including in viral hepatitis, TB (tuberculosis), cardiology, renal disease, neurology, rheumatology, chronic fatigue, lipid disorders, AIN (anal intraepithelial neoplasia), gynaecology and psychiatry.

The centre has access to a range of clinical trials including those for new antivirals, primary HIV infections and questionnaire based studies with a dedicated research team.

You can support the centre through donations, joining in events or taking part in HIV clinical trials to help find the treatments for the future.

Myeloma is a cancer that affects cells in the bone marrow called plasma cells. As the cancerous plasma cells fill the bone marrow, the body is not able to make enough normal blood cells. This can lead to anaemia, bleeding problems and infections.

Through the support of the Royal Free Charity, Dr Andrea Knight is working in collaboration with a team from the Czech Myeloma Group in Brno, analysing bone marrow samples from patients at different stages of Multiple Myeloma. This is ground-breaking research into this disease, which remains incurable, and it is hoped that the study will lead to a novel tumour immunotherapy.

The myeloma practice at the Royal Free Hospital sees approximately 30 newly diagnosed patients each year and follows over 100 patients through treatment at any one time.

A neuroendocrine tumour (NET) is a rare tumour that can develop in many different organs of the body. It affects neuroendocrine cells, which release hormones into the bloodstream. The cause of neuroendocrine tumours is not fully understood.

For many people with NETs, the progression of the cancer is slow but for some people it may grow rapidly and spread to other parts of the body, causing a range of debilitating symptoms.

The NET unit at the Royal Free Hospital

The NET unit at the Royal Free Hospital is internationally renowned for the treatment and care of neuroendocrine tumour patients. The first UK centre to achieve European Centre of Excellence status, it receives patient referrals from across the UK as well as abroad.

As well as delivering patient care, the NETs team has a strong research programme aimed at increasing understanding of the condition and supporting the development of better personalised treatments for patients. The team’s research is supported by funding from the Royal Free Charity thanks to the generosity of supporters and donors, as well as other funding sources.

The research programme incorporates both laboratory and clinical research, with projects including:

• genomic studies looking at targeting specific aspects of tumour cell biology which can be used for earlier diagnosis and therapy
• advances in molecular PET imaging
• fibrosis related to intestinal carcinoid tumours
• carcinoid heart disease
• radionuclide targeting of neuroendocrine tumours
• impact of the microbiome on tumour growth and implications for therapy

A research project made possible by the Miranda Filmer Fund, and led by leading neuroendocrine specialist Professor Martyn Caplin, is advancing the use of genomic profiling to treat neuroendocrine tumours (NETs).

This study explores why some cells within a patient are more aggressive, why their change their structure, and how they respond to treatment.

The aim is to increase understanding of which treatments work better on which patients.

There are different types of neuroendocrine tumours, NETs and NENs. This research is focussed on the most aggressive form which sadly affected Miranda Filmer, one of our amazing, courageous and inspirational patients. Miranda, a gifted equestrienne and sportswoman, was diagnosed in 2017 and died on 10 June 2022, aged 30. The zebra motif below both captures Miranda’s passion for horse-riding and alludes to the universal international symbol for rare diseases. Clinicians are often told, "when you hear the sound of hooves, think horses, not zebras." They are urged to assume that the simplest explanation of a patient’s symptoms is correct to avoid misdiagnosing them with rare conditions. However, medical 'zebras' do exist, and it is important that clinicians equipped to diagnose and treat them when they occur.  

"When you hear the sound of hoof beats, sometimes it is a zebra"

High grade (grade 3) neuroendocrine neoplasms (G3 NENs) have poor survival outcomes, unlike lower grade neuroendocrine tumours (NETs) which have a median overall survival of between 8-16 years, high grade (grade 3, G3) NENs have an overall survival of only about 7 months. Current treatment options for high grade NENs are limited and confer small survival benefit to patients.

Little is known regarding the underlying genetic make-up of these rare tumours, and we lack an understanding of the genetic differences between G3 NEN and G3 NET and how these differences may be utilised to better understand how these tumours develop and direct therapies to improve treatment options for patients, like Miranda, with these tumours.

The scientific programme aims to undertake:

1. Genetic profiling (looking at changes to in the DNA of genes) and

2. epigenetic profiling (looking at changes that control gene expression)

on tissue samples from patients with high grade neuroendocrine neoplasms, both well differentiated G3 Neuroendocrine tumours and poorly differentiated neuroendocrine carcinomas.

• Examination of tissue samples currently in the UCL/Royal Free biobank.
• Analysing formalin-fixed paraffin-embedded tissues by DNA extracted for genomic profiling through next generation sequencing (NGS) and for epigenetic analysis using techniques such as immunohistochemistry.

3. Immune assessment

• Investigation into immune related characteristics of these tumours with techniques to establish tumour mutational burden, mis match repair status and PDL1 expression with the aim to establish if these tumours would be sensitive to immunotherapy treatments.

4. Correlation with functional PET imaging

• Correlation of these molecular genetic findings with the radiological characteristics of the patient’s cancers based on the FDG PET and Gallium 68 Dotatate PET activity, to ascertain if there is a relationship between the genetic and epigenetic characteristics of these tumours and their functional imaging behaviour.

This research is to be carried out in the UCL laboratories at the Royal Free Hospital and the clinical oncology department at The Royal Free Hospital. A clinical fellow will be responsible for performing the above analysis in the laboratory, supervised by two clinical supervisors and a laboratory supervisor, working closely with our NET pathologist on sample acquisition and analyses. The aim is to recruit a second clinical fellow as the research progresses.

Functional PET imaging will be performed at Royal Free Hospital Nuclear Medicine Department.

The team hope to publish preliminary data at an international conference at least in abstract form by March 2024.

The second stage of this research will be to utilise the laboratory findings acquired and translate these findings into clinical practice within the Neuroendocrine Unit at The Royal Free Hospital. The experts at the hospital will construct predictive testing models to identify novel therapies to be used in the treatment of neuroendocrine tumours (both targeted therapies and immunotherapies) using the molecular profiling data acquired in the first stage of the research. They wish to achieve this by:

1. Developing novel neuroendocrine carcinoma cells lines (which would be the first such cell line developed) with the aim of testing novel therapies on these cell lines.

2. Utilizing existing models such as those developed by CURESPONSE and VIVAN, in which we would mimic the molecular profile of the tumours that we had identified to be common in NENs and test the effectiveness of novel therapies directly in these models.

Using this data, they would then set up clinical trials through our NETs clinic with the aim of delivering novel therapies directly to patients to acquire toxicity and quality of life data and to establish the progression free survival and overall survival benefit of these novel therapies.

We are so proud of our amazing and courageous daughter and she will be forever remembered. The idea behind this research is to identify NETS and NENs sooner and to target effective therapies and prolong the life of those diagnosed with complex disease."
Antonia and Charles Filmer

We are proud to be facilitating the Miranda Filmer Fund by working with Charles and Antonia Filmer, following the loss of their daughter, Miranda. The exceptional fundraising could be genuinely transformational for the world-renowned work of the Royal Free London in the field of neuroendocrine cancer research. We are immensely grateful to the wide network of generous donors to the Miranda Filmer Fund."
Jon Spiers, Chief Executive of the Royal Free Charity

Conventional transplantation cannot meet the demand for replacing failing organs, a growing problem with the increasing age of the population. The lack of an ideal scaffold is what limits the clinical success being translated into routine treatments for thousands of patients with severe disorders of the ear, nose, throat and face. Achieving this goal would improve the length and quality of life for many patients.

Current work in a new generation of scaffolds for tissue engineering using biological-polymer composites is centered on using nanocomposite materials. Working with nanoparticles requires a state-of-the-art electron microscope (ESEM) which the team was able to purchase with a grant from the Royal Free Charity. This microscope is essential for research and the development of organs within a clinical setting using materials and biological cells and/or tissue. For the development of organs, the team use scaffolds and stem cells in bioreactors and the ESEM is the only method of seeing how the stem cells are incorporated into the scaffold material.

Rapid Diagnostic Pathway Project (Started November 2014)

This UCL project is led by Dr Steve Pereira and sponsored by charitable funds, including Pancreatic Cancer UK, Gemma Fund, Nicki’s Smile as well our charity fund Fiorina. Its aims are to identify patients with early pancreatic cancer by testing symptomatic “high risk” patients with a panel of blood biomarkers. Validation of a diagnostic biomarkers panel combined with “symptoms tool” for early detection of pancreatic cancer could potentially save hundreds of lives in the UK every year.

Research findings so far into identifying early biomarkers for pancreatic cancer are promising. The project has also found that some early symptoms which patients have reported are often not recognised as possible pancreatic cancer in its early stages. The study aims to adopt these promising biomarkers for pancreatic cancer into routine clinical practice as well as alternative diagnostic strategies.

Our aim is to reduce the delay between the appearance of symptoms and a confirmed diagnosis of pancreatic cancer. This project brings together subject experts from London and Liverpool to join the dots between symptoms, early markers of the disease and access to treatment. We should be able to identify and treat patients quickly and more efficiently to give them the best chance against pancreatic cancer.

Our findings will also provide primary care physicians (such as GPs) with a rapid diagnostic pathway for patients with pancreatic cancer.

Updated February 2023

Scleroderma, also called systemic sclerosis, is a complex and serious rheumatic disease that affects much more than the joints and muscles.  Unfortunately, many patients develop scarring and inflammation in the blood vessels, lungs, kidney, and intestinal tract. This leads to problems that can be life threatening including pulmonary fibrosis, pulmonary hypertension, and renal failure.

Fortunately, research efforts have improved the outcome for patients and work led by the Royal Free London and University College London has underpinned the progress.

The Royal Free Charity has provided generous support for research, patient care and education in scleroderma. Our unit cares for well over 1,000 patients with this rare disease and is the largest centre in the UK and one of the leading centres internationally. There are strong links with research scientists at UCL and with many key clinical services at RFL including plastic surgery, cardiology, pulmonary hypertension, respiratory medicine, nephrology, dermatology and gastroenterology.

Highlights and projects that are being undertaken are listed below.

Stem cell transplantation. For some patients at risk of severe internal organ disease autologous stem cell transplantation has emerged as a treatment. Unfortunately, it is very intensive and sometimes recipients do not survive the treatment to gain the long-term benefit. Recently we have hosted a visiting fellow form Utrecht, a lead centre in Europe with unrivalled experience and expertise. This allowed us to optimise our patient assessment and approach to align it with the best international standards.

Better prediction of life-threatening complications. One of the challenges of systemic sclerosis is that development of major heart, lung or kidney complications is hard to predict. We have worked on integrating routinely collected clinical information for lung and heart tests and developed new blood tests (called biomarkers) to predict complications before they develop, or at an earlier stage when treatment may be more effective. One key project called MODERNISE Scleroderma will develop new ways of harnessing and integrating data to improve risk prediction for patients.

Development of new medical and surgical therapies. The Royal Free Centre, linked to the new NIHR Royal Free Clinical Research Facility and the ongoing research laboratories, including collaborations across UCL, is at the frontline in testing new treatments. Globally, three drugs have been approved for systemic sclerosis or scleroderma associated lung fibrosis in the past two years and Royal Free Hospital has been involved in key trials of all these agents.

New drugs are emerging, but additional research funding can help to unlock the full potential and permit exciting scientific studies that will unravel the mechanisms of systemic sclerosis and lead to the next trails to try and achieve the benefit of stem cell transplantation without its associated risk.  In addition, we have the largest programme for “autologous fat transfer” led by Professor Peter Butler, that represents a uniquely effective treatment for facial fibrosis that has not previously been treatable.

Unravelling the gut in scleroderma: We are very grateful for donations to the Royal Free Charity that have specifically supported research into the intestinal complications. This has already led to new research and better understanding of patients at most risk and we also are gaining insight into new disease mechanisms and moving to test effectiveness of emerging drugs. Gut complications impact quality of life and can be life-threatening and represents a major unmet need.

Linking cell damage to fibrosis – new concepts about the cause of scleroderma:
Donated funds have helped cover the relatively modest costs of small pilot studies looking at the possible factors underpinning the link between fibroblast activation and tissue damage that we think may underlie progression of fibrosis in the skin and lungs. We have been able to undertake some new work that hopefully will allow us to secure a larger research grant to support laboratory studies.

Together the recent and ongoing research funding from Royal Free Charity is helping with all aspects of developing world class care at the Royal Free Hospital for scleroderma and underpinning vital research into the disease which harnesses the hard work of the clinical and research team and reflects enormous commitment from our patients and their families.

Professor Chris Denton, centre for rheumatology, Royal Free Hospital and UCL Division of Medicine