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Current research programmes

The programmes, undertaken by our researchers and often in collaboration with others, are focused on benefiting patients by enhancing the overall care we provide across all clinical areas.

If you require any further information or are interested in joining one of our studies, please call 0151 702 4346 or email

*Please be advised that due to the current circumstances surrounding COVID-19, the majority of our research studies are on hold*

Gynaecology Studies

  • Future Study

    FUTURE Study - Female Urgency, Trial of Urodynamics as Routine Evaluation

    The FUTURE study aims to assess whether routinely performing urodynamic studies, over and above comprehensive clinical assessment in women with refractory over active bladders, improves the outcomes of treatment. We also want to assess whether doing the UDS test on everybody makes the best use of the NHS resources i.e. whether it is cost-effective.

  • Expedite

    Ectopic Pregnancy DIagnosis sTudy:

    Developing metabolomics profile analysis in biofluids to detect an ectopic pregnancy in symptomatic women in early pregnancy

    Approximately 1 in 3 of all women who are pregnant, will visit the gynaecological emergency department in early pregnancy because of bleeding and/or abdominal pain. One woman in thirty with these symptoms will have, a pregnancy that grows outside of the womb (an ectopic pregnancy).

    An ectopic pregnancy can be in the fallopian tube, ovaries or anywhere in the pelvis. Even with all modern technologies, it is still difficult to diagnose an ectopic pregnancy, with more than half not diagnosed when women first seek medical help. Because of this, we need to improve the way we diagnose an ectopic pregnancy by developing better tests in order to reduce the health risks and stress to women. We are looking for 625 women who are in the beginning of their pregnancy (less than 10 weeks from their last period) and visit the Liverpool Women’s Hospital emergency department because of bleeding and/or abdominal pain. We are trying to develop an easy and quick test that can accurately identify women with ectopic pregnancies

  • The TOPSY trial

    The TOPSY Trial: A study comparing self-management with clinic based follow up for women using a vaginal pessary for prolapse

    Pelvic organ prolapse is a common condition that often leads to women having symptoms that interrupt their day to day life. One treatment that some women receive for pelvic organ prolapse is a vaginal pessary.  However, it is not clear how to support women once their pessary is in place. One option is that women attend an appointment approximately every four to six months to have their pessary changed: this is called standard pessary care. Another option is that women are taught how to remove and re-insert their pessary at home: this is called pessary self-management. 

    At the moment there is no evidence to tell us which of these is better for women. Therefore this study aims to compare standard pessary care with pessary self-management to find out which is better at improving women’s quality of life when they are using a vaginal pessary for treatment of pelvic organ prolapse.

  • PIP-PCOS Study

    The Pipelle for Pregnancy for polycystic ovarian syndrome (PIP-PCOS) study

    Endometrial pipelle sampling (also known as endometrial biopsy, injury or scratching) is a new procedure now being trialed in couples with subfertility related to polycystic ovarian syndrome. The procedure involves inserting a thin plastic sampler (pipelle) through the cervix and into the womb where a sample from the endometrium is then obtained by rotation. The sample is then discarded. It is thought that the action of taking the sample results in a small disturbance to the lining of the womb which might result in an increased chance of pregnancy.

    Some preliminary research has found that pipelle sampling in women who have undergone many unsuccessful IVF cycles increases their chance of pregnancy in the next IVF cycle. However, it is not known whether pipelle sampling is also helpful

    Couples who agree to take part in the PIP-PCOS study will be randomly allocated to either pipelle sampling or no sampling.

  • Endometrial Stem Cell Study

     The role of the identified regulators of cell fate (RCF) and metastasis-inducing-proteins (MIP) in endometrial stem/progenitor cells (SPC) in endometriosis

    The inner lining of the womb (endometrium) may play an important part in recurrent pregnancy loss. Recurrent pregnancy loss affects one percent to three percent of women. Recurrent implantation failures may present as infertility. It is possible that an abnormality of special cells in the endometrium called stem cells can cause recurrent pregnancy loss or recurrent implantation failures. If so, the information from this gynaecology study of endometrium stem cells will help us to develop new techniques to diagnose and treat this distressing condition.

  • UCON

    This is a study for women who suffer from heavy menstrual periods; for which the main treatment is a device called the Mirena coil. Recently, a new drug called ulipristal has been found to quickly reduce bleeding in women with large, non-cancerous growths in the womb, known as fibroids. It is not known whether this drug is effective in reducing the impact of heavy menstrual bleeding in women who do not have fibroids, or have small, insignificant fibroids. It is also unclear how ulipristal stops menstrual bleeding and its effect on the womb lining. Both ulipristal tablets and the hormone releasing coil are safe, effective treatments, each with advantages and disadvantages, but doctors do not know which women will benefit from either treatment. Since the way the treatments work and are used are different, it is important to compare them against each other.

Fertility Studies

Oncology Studies


    Simple Hysterectomy And Pelvic node dissection in Early cervix cancer

    The usual treatment for early stage cancer of the cervix is with a type of extensive surgery called a radical hysterectomy, in which the uterus and surrounding tissues are removed along with pelvic nodes. Radical hysterectomy is highly effective and will cure over 90% of women with early stage cervical cancer. However, it also causes a number of side-effects, both soon after the surgery, and in the long-term. It has been proposed that performing a less extensive surgical procedure, called a simple hysterectomy, in which less of the tissue surrounding the uterus is removed along with pelvic nodes, will have the same benefits in preventing cancer of the cervix from returning. It is also proposed that the simple hysterectomy will have fewer side-effects after surgery and fewer long-term side-effects.

  • ROCkeTS

    Refining Ovarian Cancer Test Accuracy Scores:

    A test accuracy study to validate new risk scores in women with symptoms of suspected ovarian cancer

    We know that lots of women have symptoms such as bloating and tummy discomfort. It is also very common to have cysts (balloon like swellings) on women’s ovaries picked up by ultrasound. In addition, some women have higher levels of a blood test called CA125; this blood test is abnormal in lots of conditions - women with periods, fibroids, appendicitis etc. A very small number of women with ovarian cysts or abnormal CA125 will go on to be diagnosed with ovarian cancer.

    The purpose of this study is to identify better tests for women with ovarian cysts or abnormal blood tests so we can pick up ovarian cancer earlier. This will also reduce unnecessary tests, hospital visits and distress in women who don’t have cancer.

  • MROC

    The Impact of Multiparametric MRI on the Staging and Management of Patients with Suspected or Confirmed Ovarian Cancer

    When patients have suspected or confirmed ovarian cancer the best treatment is often surgical removal of all or most of the disease. Currently, a simple test called a CT scan (or Cat Scan) is used to identify where the disease is located and if surgery would be a suitable treatment option.

    However, CT scans cannot always tell if the disease is benign (not cancer) or malignant (cancer) nor can it always tell us how far the cancer has spread or reliably show us when it would be best to operate. Because doctors want to offer patients the chance of surgery when possible, women are given the benefit of any doubt if there is any uncertainty on the CT scan as to whether surgery will be successful. This means that 15–40% of patients are found to have inoperable disease at the time of surgery, gaining little benefit from surgery and delaying the start of their chemotherapy. Additionally, in up to 30% of cases, suspected ovarian cancer turns out not to be cancer at all, and these women could have undergone less complex surgery or even avoided surgery and associated emotional distress if the CT scan was more accurate.

    It is possible that a different type of scan, called magnetic resonance imaging scan (MRI), may be more accurate than CT, especially a newer version “multi-parametric” MRI (mpMRI). From an mpMRI scan, doctors are able to see additional features, such as the movement of water molecules. This may enable them to better recognise healthy tissue from cancer. Our study aims to determine whether women would benefit from having a pre-operative mpMRI compared to CT scan

  • Plasmajet

    A Comparison of the Clinical and Histological appearances after treatment of Ovarian Cancer with Plasmajet

    The aim of this study is to assess the clinical appearances of tissue following treatment with Plasmajet, and to compare this with the histological assessment of the same tissue which has not been treated.

    Within the study we will use Plasmajet on a small area of tumour that has already been removed as part of the operation. This area will be treated with Plasmajet until no visible disease is present to the naked eye. This Plasmajet treated section would then be sent to the histopathology laboratory along with all other removed specimens, and we will ask the Pathologists to assess that area for the presence or absence of any tumour cells, and the presence or absence of damage to any underlying structure, e.g. bowel surface.


    PROTECTOR is an observational  research study for women who are at an increased risk of developing ovarian cancer. Some women may carry a fault/alteration in their BRCA1 or BRCA2 gene making them high risk. Whilst, others may be at an increased risk due to a strong family history of cancer or a fault in another ovarian cancer causing gene like RAD51C, RAD51D or BRIP1. This study aims to assess the impact on women of a new two-step option to prevent ovarian cancer. This involves initially just having your tubes (fallopian tubes) removed to prevent ovarian cancer. This is followed by removing your ovaries in a separate operation at a later date of your choosing. The study assesses women’s views and the impact of this approach to prevent ovarian cancer on sexual function, hormone levels, quality of life and overall satisfaction. Outcomes from this new approach are compared to the traditional approach of removal of both tubes and ovaries at the same operation. We also compared this to the well-being of women who do not have an operation.

Maternity Studies

  • SuPPoRT

    SuPPoRT: Stitch, Pessary or Progesterone; a randomised trial

    The purpose of this study is to assess which treatment is best for the mother's and the baby’s health. In order to find out which treatment is best, we need to make comparisons between them when the choice of treatment for each participant is randomly allocated (which we will do using a computer program). Neither the participants nor their doctor will be able to choose the form of treatment. We hope that 510 women will agree to participate, of whom 170 will be treated with a stitch, 170 with progesterone and 170 with the pessary. The results will then be compared to see if one treatment is better than the others.

  • C-Stich

    Cerclage Suture Type for an Insufficient Cervix and its effect on Health Outcomes

    There are two types of threads commonly used for cervical stitches. One thread is made of a single strand; the other is made of strands woven together. Woven threads are sometimes thought to be stronger and easier to remove before birth. However, they might encourage infection, which can trigger an early start to labour.

    In contrast, a single strand thread is considered by some to be less likely to cause infection. However, others think this thread can cut the cervix and be harder to remove.

    At the moment there is no evidence as to which is the best type of thread to offer to women who are having a stitch to prevent their baby being born too soon. This is why we are doing C-STICH. Your doctor is happy to use either type of thread.


  • Research Tissue Bank

    Collection and storage of tissue from gynaecological surgery (hysterectomy)

    The Research Tissue Bank collects and stores tissue taken at surgery for research. By doing this the research tissue bank is able to build up a valuable collection that will be used by research groups investigating complications of the female reproductive system. It is hoped that the resulting knowledge will help other women in the future.


  • Big Baby

    Induction of labour for predicted macrosomia ‘The Big Baby Trial’

    The aim of this study is to find out the best way to care for women with babies who appear to be bigger than expected for their dates. Identifying if labour should be started a little earlier for these women is an important unanswered question. The results of this study will provide evidence about the best way to care for women with bigger babies.


    In some pregnancies in order to diagnose certain genetic and chromosomal problems an amniocentesis (a sample taken from the fluid surrounding the baby) or chorionic villus sampling (CVS) (a sample taken from the placenta) is needed. Research has shown that it may be possible to use a simple blood test taken from the mother early in pregnancy to gather information about the health of the baby and predict certain complications of pregnancy. One of the key advantages of the new blood tests will be the ability to make a diagnosis without the need for amniocentesis or CVS which means future testing could be much simpler and much safer for both mother and baby.

    Before we can offer the new tests routinely it is important to ensure they work well and are accurate. To do this we need the help of parents with both normal and complicated pregnancies to collect a bank of samples that will allow us to compare these new tests with those in current use.

    If you are attending the Fetal Centre or FMU for amniocentesis or chorionic villus sampling and would like to take part in this study, contact the Research Midwives on 0151-702-4355.


    Neurodevelopment After Prenatal Exposure to Seizures (NAPES) Study

    We are doing this study to find out more about the health and development of children born to women who have epilepsy. Every year thousands of women with epilepsy around the world become pregnant; in fact 1 out of 250 pregnancies is to a women with epilepsy.

    This study aims to help understand whether having seizures during pregnancy is linked to poorer child development in their first year of life. Currently there is no clear information as to whether short seizures have an effect on the developing baby. Without having this information it makes it harder for women and their doctors to make decisions about treatment during pregnancy when a women is having seizures. It is expected that when this study has finished the information collected will help doctors and women with these decisions.

  • FOCUS - Fear of Childbirth Story

    Some women may feel frightened about giving birth. However, little is known about what these fears are about or how they affect women in pregnancy. We are interested in understanding more about women's childbirth fears, so that we can improve ways of identifying and supporting women with fear of childbirth during pregnancy.  We are currently running a study with women who are pregnant and who have reported feelings of fear about giving birth to their midwife. You may be asked if you would like to hear more about taking part in this study, or you can contact the researcher about the study yourself if you think it is relevant to you after seeing this information.  For further information please contact Katie Balling on 07776 491 292 / or Kayleigh Sheen

  • Health Related Behaviours in Pregnancy

    The aim of this study, by Liverpool University is looking at whether your relationship with your baby influences your engagement with health related behaviours during pregnancy. You must be in your third trimester (28-36 weeks) to participate in this study and before you decide whether to take part, it is important for you to understand what it will involve.

    Important things you need to know:

    • You will be asked to complete a set of questionnaires that will be related to your mood, your relationship with your baby and your lifestyle.  This should take around 30-40 minutes to complete.
    • Your answers on the questionnaires will be kept confidential and will not be shared with health professionals involved in your care.  However, if you disclose information that indicates a potential risk to yourself or others the researcher will be required to inform your midwife, which will be done with your consent where possible.
    • Taking part in this study is voluntary - you can stop taking part at any time without having to give any reason.
    • The questionnaires will be anonymised so that you cannot be identified when the data is being analysed.  The data will be stored securely in accordance with Data Management policies at the University of Liverpool.
    • This is a research study and you will not personally benefit from taking part in the study.
    • This study has been granted ethical approval by the NHS Research Ethics Committee.

    For more information please contact Elizabeth Bickford-Smith:  or  0151 794 5102.

  • Twin Pregnancy Registry

    The purpose of this registry is to address the gaps in knowledge in order to inform us what is the best treatment to offer in multiple pregnancies that develop complications, and what is the best way to monitor for the development of these complications. This should ultimately improve the care we provide to these women and babies. Furthermore, the registry will help us to ensure that all units caring for women with multiple pregnancies in the UK are providing consistent, evidence-based care. The registry will also provide a platform to allow long-term follow-up of these children at a national level.

  • C-Stich2

    A cervical cerclage is the placement of a stitch to keep the neck of the womb closed. A stitch can be placed in a planned way because of a risk of preterm birth based on a woman’s pregnancy history or because the neck of the womb is shorter than normal on an ultrasound scan but still closed. Sometimes the neck of the womb can start to open and expose the bag of water around the baby. If this happens between 16 and 28 weeks of pregnancy, an emergency stitch is sometimes inserted to try to delay delivery. Prolonging the pregnancy so that the baby can be born when they are bigger and stronger may give them a better chance of surviving and suffering from fewer complications of prematurity. However, doctors do not know if an emergency cerclage works. There is some evidence it may prolong pregnancy but it is possible that it will also speed up delivery by causing infection or damage to the neck of the mother’s womb

    This study will ask women who have an open neck of the womb with the bag of waters around the baby coming through, to have either an emergency stitch or no emergency stitch. Which treatment they will receive will be decided by a process that randomly allocates a woman to one group or the other.

  • WILL

    The WILL study is looking to enrol pregnant women who have pre-existing or pregnancy-related high blood pressure (hypertension). High blood pressure can increase the risk of health problems to the mother and to her baby, and the WILL trial is being conducted to see at how many weeks of pregnancy it is best to deliver your baby, in order to minimise this risk as much as possible.

Neonatal Studies

  • Baby Oscar

    Outcome after Selective Early Treatment for Closure of Patent Ductus ARteriosus in Preterm Babies

    PDA is a condition that is caused by a blood vessel called the Ductus Arteriosus staying open after a baby’s birth (patent here means open). During pregnancy, the Ductus Arteriosus allows blood from the baby’s heart to flow to the mother’s placenta to get oxygen, bypassing the baby’s lungs. Soon after birth the ductus should close to allow blood to flow to the baby’s own lungs to get oxygen. However in very premature babies the ductus often takes a long time to close on its own and this can lead to a variety of complications. Doctors are unsure if early treatment should be offered to very premature babies to close the PDA and reduce the risks of complications, or whether it would be better to wait and see (the conservative approach) if the ductus will close on its own.

    The aim of this study is to find out whether or not a large Patent Ductus Arteriosus (PDA) in very premature babies should be treated with ibuprofen within 72 hours of birth. Ibuprofen is a NSAID (non-steroidal anti-inflammatory drug) that is commonly used for pain relief in adults.

  • HeartBeat Study

    Improving early decisions in neonatal encephalopathy

    Neonatal encephalopathy or hypoxic ischaemic encephalopathy (HIE) is a condition that happens when there is lack of oxygen and blood flow to the baby’s brain around the time of birth. How well the baby will be, depends on how much suffering the lack of oxygen caused to the baby’s brain. If it was only minimal, babies may not have any long-term problems. If the lack of oxygen caused severe brain injury, some babies may not survive or may have long term development problems.

    Brain injury can be reduced in some babies if appropriate treatment (for example cooling therapy) is started soon after birth, and stress is prevented. However, we do not have any accurate tools to measure the degree of brain injury at such an early time. We also don’t have any device to measure stress in real-time. This study will find out if analysing small changes in heartbeat can help us measure brain injury and monitor stress in babies.

  • Genie Study

    Genomic Imaging in Neonatal Encephalopathy

    Neonatal encephalopathy is a condition related to a lack of oxygen and blood flow to a baby’s brain around the time of birth. We routinely offer cooling therapy to these babies in NHS hospitals. However, they may still have long term developmental problems, despite cooling therapy.

    Recent evidence suggests that subtle genetic variations can influence how babies respond to this type of brain injury. Therefore, we need to understand the genetic variations so that in the future we can develop personalised medicines to treat babies more effectively.


    This is a national study aimed at improving neonatal service delivery for babies born below 37 weeks gestation in England, by providing evidence-based data on the optimal delivery of surfactant and the impact on neonatal outcomes.

Genetic Studies

  • Embrace

    Epidemiological Study Of Familial Breast Cancer

    We are trying to find out more about the causes of breast, ovarian and prostate cancer in people with a family history of the disease. A small number of people have an increased risk of these cancers as a result of inheriting a mutation in specific genes, but we do not know what other genetic or lifestyle factors may be important. This study is trying to identify these other risk factors. This is a long-term study, which has and will continue to contribute to scientific papers.



    Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in men at higher genetic risk and controls

    Recent research is beginning to suggest that men who have an alteration in one of the Mismatch Repair genes (MSH2, MSH6, MLH1), also called Lynch Syndrome, may be at a higher risk of developing prostate cancer. This study aims to look at methods of early detection of prostate cancer in men at a higher risk and compare this with a control group. You will have been invited into this study either because you have been found to have an alteration in one of the Lynch Syndrome genes after a genetic test in a genetics centre, or because you are acting as ‘a control’. Men in the control group have had a genetic test for an alteration known to be present within their family and this test has been negative. Having a control group will enable us to compare the measurements that we will take in this study in people who have an increased risk of prostate cancer (those with the genetic alteration) and those who are currently thought to have the same risk as the general population (the controls)


  • COG Study

    The Childhood Overgrowth (COG) Study

    The main aims of our study are:

    1. We want to identify genetic causes of conditions associated with increased or asymmetric growth in childhood.
    2. We want to try to learn more about the physical and developmental problems that are sometimes associated with increased or asymmetric growth in children.
    3. We want to improve the accuracy of diagnosis of conditions associated with increased or asymmetric growth in childhood and we want to develop guidelines to help clinicians manage these conditions.
  • POD Study

    We would like to increase our understanding of the clinical and genetic features of rare genetic overgrowth disorders. At present we do not fully understand the genetic causes of these conditions and the medical problems that are associated with each condition. Studying the clinical features (the ‘phenotype’) of individuals with overgrowth disorders will increase our knowledge of these conditions.

    Improving our understanding of these disorders will enable health care professionals to provide more accurate information and the best possible care to individuals with overgrowth conditions. Identifying the genetic causes may also help with developing treatments in the future.

  • CORGI2

    Malignant bowel tumours, such as cancers, are rather common and benign bowel tumours, such as polyps are very common. Inherited factors (genes) may increase or decrease a person’s risk of bowel tumours. We are studying patients and families with a history of bowel tumours in order to identify genes that could affect the risk of developing this condition and find out why they have this effect. We are also studying patients and families who have developed tumours, such as cancers of the uterus (womb), that are potentially related to bowel cancer.

    The purpose of this study is to identify and characterise new hereditary factors that may lead to the development of bowel tumours. In turn, this will increase our understanding of why bowel tumours develop

  • Pregcare

    The purpose of this study is to see if it is possible to work out a category for a new mutation found in a child, by analysing a series of biological samples collected from the child’s parents. This would in turn allow geneticists to provide better estimations of risk for families.

  • Exploring distribution of referrals to a Clinical Genetics Service V1- Genetics

    This study concerns the first phase of a doctoral research study examining what helps patients make use of genetic services and possible reasons for not using these services.  It is funded by the Collaboration for Leadership in Applied Health Research and Care - North West Coast and undertaken in partnership with Liverpool Women’s NHS Foundation Trust.

    Research evidence has shown that factors like ethnicity, gender and level of education can affect whether or not people attend genetic services. This study will also examine if factors such as availability of transport or living in the countryside affect whether people attend.                 

    We would like to look at data from any new patients referred to the genetics service during the period 01 April 2013 to 31 March 2016.      

    Permission to access this data has been approved by an NHS Ethics Committee. Only fully anonymised information will be transferred to the University secure server for further analysis.
    Geographical Information Mapping methodology, which creates visual maps of the North West Coast area, will be used to explore if there are any relationships between, for example, availability of transport links and the pattern of referrals observed.  These relationships will be discussed with service providers in Phase 2 of the PhD study.

    If you would like more information or to opt out of having the referral information the hospital holds being anonymised and included in the study, please contact  the Research and Development Department on 0151 702 4346 or

  • Splicing and Disease

    The aim of this study is to identify new gene faults and to understand which gene faults found during gene sequencing are disease causing. This will be done by looking to see if a gene fault affects splicing of the gene or of other genes. Finding which do will help make genetic testing possible for the disorder. This knowledge may eventually help in the management and treatment of these or other illnesses. Our research can also help understand how these genes normally work in the human body and brain.

  • Early DEvelopment in Neurofibromatosis Type 1 (EDEN)

    Many children with NF1 can have difficulties such as Autism Spectrum Disorder (ASD) and Attention deficit Hyperactive Disorder (ADHD). But we don’t understand how these conditions develop, what the early indicators of these difficulties might be or why some children with Nf1 are protected from these difficulties. We hope that this research study will help us develop new tests that may in the long-term, help us with earlier diagnosis and developing new treatments for children with NF1.

  • The GENetic Frontotemporal Dementia Initiative (GENFI)

    The study purposes are to improve diagnosis of frontotemporal dementia and help measure effectiveness of future treatments. The specific aims are to identify the earliest features of frontotemporal dementia and to understand how they progress over a period of several years. We will be working with the GENetic Frontotemporal Dementia Initiative (GENFI), to analyse the findings alongside other national and international researchers from carefully selected centres with expertise in this type of dementia.

  • SCOTTY Study

    Our aim in this study is to conduct detailed genetic analysis of blood and tissue removed from tumours from individuals who have developed bowel cancer at a young age and also blood samples from each of their parents. These samples will be analysed using a technique called “NextGeneration Sequencing” (NGS).  NGS is a scientific technique that gives us a “read-out” of all the genetic information that is stored in our DNA within each of our cells within the body. It is this information that makes every person unique.  We aim to identify changes in patients DNA (mutations) that may not be present in parents. We aim to collect this information to help us identify mutations that are causing bowel cancer.  This will in the long term help us to develop new treatments and predict who will be susceptible to cancer and so be able to prevent disease progression.

  • EXE-T1D

    Type 1 diabetes (T1D) results from destruction of insulin producing beta cells by the body’s own immune system (autoimmunity). We do not fully understand what causes this type of diabetes and why there is variation in age of onset and severity between people who develop the disease. The aim of this work is to study very unusual people who develop T1D extremely young.   

    Very few people with T1D are diagnosed so early in life. We think that, for the condition to have developed that early, they must have a very unusual or extreme form of autoimmunity. Sometimes this is caused by a spelling mistake inherited in a single gene but sometimes the cause is not obvious even after genetic testing. Studying the immune system of people with very early-onset diabetes might help us to learn a lot about the disease.


    SOLVE-RD is a study which is being funded by the European Union to help improve diagnosis for patients with rare diseases.  Even though the number of people with an individual rare disease is low, if we combine the very large number of rare diseases, the number of patients in Europe with rare diseases runs into hundreds of thousands. The majority of rare diseases have a genetic cause.

    We aim to study new ways of analysing genetic information and to look not just at the genetic code of genes within an individual but also at how these genes are actually working. Through this process we aim to find out more about underlying causes of rare diseases, because this can help to determine the best way for patients to be cared for and can provide important information for their families and carers.