Skip to main content

Latest updates as Liverpool Women's Hospital gradually returns to normal

Updated 10:30am 02/12/2021

Our main entrance area and patient car park are now open. Patients will be permitted to enter the hospital to wait inside when they arrive prior to an appointment. For full details on these latest changes CLICK HERE





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

COVID-19 Studies


    Randomised Evaluation of COVID-19 Therapy

    There are currently no approved treatments for COVID-19.

    Oxford University is running the RECOVERY Trial which will enable reliable assessment of the effects of multiple different treatments on major outcomes among people with COVID-19.

    Some of the treatments will be drugs used for other conditions, other new drugs may become available during the trial.

    All patients participating in the trial will receive usual standard of care.


    Pregnancy And Neonatal Outcomes in COVID-19

    A global registry of women with suspected COVID-19 or confirmed SARS-CoV-2 infection in pregnancy and their neonates; understanding natural history to guide treatment and prevention

    This study aims to collect information about COVID-19 and SARS-CoV-2 in pregnancy and babies from around the world into a register which the research team will use to share information with healthcare professionals around the world, allowing them to improve the care they give. We would like to find out more about the effect of COVID-19 on early pregnancy, the growth of babies, early delivery and possible infection of babies.

  • UKOSS Pandemic COVID-19 in Pregnancy

    Maternal and Perinatal Outcomes of Pandemic Influenza in Pregnancy

    This NIHR supported study is a national study of women hospitalised with confirmed COVID-19 in pregnancy. The study will use the UK Obstetric Surveillance System (UKOSS) to collect information about all pregnant women admitted to hospital who are confirmed to have the virus infection. The information will be analysed on a continuous basis to inform ongoing guidance for women and maternity staff as we respond to the pandemic. Specifically, the study will describe incidence, management and outcomes of COVID-19 in pregnancy and identify factors associated with better outcomes for women and their babies.

  • The COVID-19 Resilience Project

    Studying the Impact of COVID-19 on the NHS Workforce to Guide Trauma-Informed and Psychologically-Informed Support Provision

    This study aims to investigate the immediate and longer-term impact of the COVID-19 crisis on the psychological and emotional wellbeing of NHS staff. This will allow for a better understanding on how to effectively support and maintain staff psychological well-being and mental health during this time.


    ASPIRE-COVID-19: Achieving Safe and Personalised maternity care In Response to Epidemics

    The aim of this study is to find out how best to provide NHS care for mothers, babies, and partners during and after a pandemic. This component of the study (September 2020–March 2021) will use eight NHS Trusts in England as case studies to explore how their services have been organised during COVID-19


    Facilitating Accelerated Clinical Evaluation of Novel Diagnostic Tests for COVID -19

    We need to understand the accuracy of current and new tests for COVID-19 and the underlying novel coronavirus infection (SARS-CoV-2). The current tests for COVID-19 were deployed rapidly and were based on well proven theory. However, the accuracy of these tests in the clinical environment is not well understood. Also, we do not know the accuracy of more rapid tests that are now available. These tests are being used to screen the population and patients admitted to hospital, it is therefore of critical national importance that we thoroughly understand the strengths and any limitations of this testing.


    A Phase II, Randomised, Single-Blind, Platform Trial To Assess Safety, Reactogenicity And Immunogenicity Of COVID-19 Vaccines In Pregnant Women In The United Kingdom

    This study aims to recruit, vaccinate and follow-up pregnant women across the UK in order to look at the safety of, and immune responses to, COVID-19 vaccines in pregnant women and their babies. 

Gynaecology Studies

  • 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

  • CERM

    Chronic endometritis and recurrent miscarriage 

    The aim of this research trial is to find out if antibiotics can reduce miscarriage. In some women the lining of the womb (the endometrium) is inflamed. Researchers have found a link between this and miscarriage. A healthy endometrium is important for the embryo to be able to attach to the womb. It is thought that endometritis disrupts this process, and can lead to a miscarriage. Treating endometritis with antibiotics may reduce the inflammation and the likelihood of a miscarriage. This has not been tested.

    This research trial will test this theory by comparing a 14-day course of an antibiotic (doxycycline) against a placebo (a ‘dummy treatment’ which will look exactly the same as the antibiotic but contains no active ingredients) to find out if taking antibiotics reduces miscarriages. The trial will be ‘double blind’.  This means that the women and the trial researchers will not know who is taking the antibiotic capsules and who is taking the placebo.

Fertility Studies


    Feasibility cohort study: Serum mid-luteal progesterone versus ultrasound for monitoring first-cycle clomifene citrate

    NICE guidance (CG156) advises that transvaginal ultrasound (TVUS) monitoring should be used during the first cycle of treatment with clomifene citrate, to monitor for the risk of multiple pregnancy.[1]  This guidance is based on expert opinion, as an evidence base is not currently available.  We know from our previous work that the guideline is often not followed in fertility services.[2]

    The aim of this study is to provide evidence on the feasibility of conducting a cohort study of multiple pregnancy rates when first-cycle clomifene is monitored either with or without TVUS.  A secondary aim is to evaluate the clinical and financial implications of using serum mid-luteal progesterone monitoring as an alternative to TVUS.

  • Sperm DNA testing, Fertility treatment and Miscarriage

    Investigation of the Role of Sperm Quality in Fertility Diagnosis, Fertility Treatment and Miscarriage

    The purpose of this study is to examine how the quality of your sperm affects your fertility diagnosis or fertility treatment success. Most research to date has focused on the woman and very little is known about the impact that sperm have on fertilisation, embryo quality, pregnancy or miscarriage.

  • LOCI

    Letrozole Or Clomifene for Ovulation Induction: Letrozole or Clomifene, with or without metformin, for ovulation induction in women with polycystic ovary syndrome: a 2x2 factorial design randomised trial (The LOCI Trial)

    In order for you to conceive naturally, an egg will need to be released from your ovary. For women with PCOS, this does not always happen, and therefore we need to give medicines to help your body release an egg. There are two drugs we can give to help you release an egg; one called ‘clomifene’ and another called ‘letrozole’. There is another drug called ‘metformin’ that we can also give you at the same time as these other drugs, but we are not sure if this carries any additional benefit. Overall, we are not sure which drugs are best for ovulation induction and a successful pregnancy outcome. The purpose of this study is to test which drugs are best.


Oncology Studies

  • 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.


    Preventing Ovarian Cancer Through Early Excision of Tubes and Late Ovarian Removal

    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

  • 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.


    New Methods of Detecting Problems in Pregnancy

    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.

  • FOCUS - Fear of Childbirth Study

    Fear of Childbirth: Specification of the Construct and Evaluation of Existing Measures for Use in an English Maternity Care Setting

    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

    TTTS Registry - Multiple 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

    C-STICH2: Emergency Cervical Cerclage to Prevent Miscarriage and Preterm Birth: a Randomised Controlled Trial

    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

    When to Induce Labour to Limit Risk in Pregnancy Hypertension - a Multicentre, Randomised Controlled Trial

    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.

  • When Pandemic and Everyday Ethics Collide

    When pandemic and everyday ethics collide: supporting ethical decision-making in maternity care and paediatrics during the Covid-19 pandemic.

    This project focuses on how the response to Covid-19 has created significant ethical issues for providers of non-C19 services when deciding how to prioritise and reconfigure services. Our central aim is to evaluate and support clinical decision-making in two non-C19 areas: maternity and paediatrics.

  • COPE

    Carboprost vs Oxytocin as the First Line Treatment of Primary Postpartum Haemorrhage. A phase IV, double-blind, double-dummy, randomised controlled trial.

    Excessive bleeding after childbirth (also known as postpartum haemorrhage or PPH) is a common problem which affects 1 in 20 women.

    COPE is a research study to compare two drugs currently used to treat PPH, to decide which is better. The two drugs are carboprost and oxytocin.

  • PARROT-2

    Placental growth fActor Repeat sampling for Reduction of adverse perinatal Outcomes in women with suspecTed pre-eclampsia: the PARROT-2 Trial

    The first PARROT study has shown that changes in blood levels of a substance produced by the placenta called Placental Growth Factor (PlGF) can help reduce the time it takes for doctors and midwives diagnose pre-eclampsia. This test can also reduce harm to pregnant women who are diagnosed with pre-eclampsia. We do not know when or how often this test should be repeated to help continue monitoring pregnant women who are thought to be at increased risk of pre-eclampsia.

    The PARROT-2 study will help doctors and midwives understand when and how often to repeat the PlGF-based blood test between 22+0 and 35+6 weeks and we hope this will improve the care of all women at risk of pre-eclampsia.


    Perinatal and 2 year neurodevelopmental outcome in late preterm fetal compromise: the TRUFFLE 2 Randomised Trial

    Currently, doctors don’t have good information to help them decide about the best time to deliver a baby between 32 and 36 weeks of pregnancy. At the moment many different approaches are being used. This study aims to find answers about the safest time to deliver the baby.

  • MAP

    Methods of Assessing Perinatal Anxiety: The Acceptability, Effectiveness and Feasibility of Different Approaches

    This study will determine which of four assessment measures of perinatal anxiety are most effective at identifying women in need of intervention, and which are most psychometrically robust. It will also identify the optimal timing of assessment to identify women in need of treatment.

Neonatal Studies

  • 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.


    Optimising Surfactant Delivery for Preterm Babies with Respiratory Distress Syndrome

    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.

  • FEED1

    Fluids Exclusively Enteral from Day 1

    In this study we want to find out whether babies born 8-10 weeks early will do better if we feed them fully with milk from the first day. We want to know whether this will help babies go home sooner (reduce the number of days they need to stay in hospital). We will also check if this helps reduce infection risks, affects the risk of NEC, and helps mothers breast feed and be more involved in caring for their baby.


    Cooling in Mild Neonatal Encephalopathy Trial

    We know that babies with more severe encephalopathy benefit from being cooled for the first 3 days after birth. However, we do not know whether this is an effective treatment for babies with mild encephalopathy. Although babies with mild encephalopathy tend to rapidly recover on their own without a specific treatment, some babies may develop learning disabilities during childhood, including cerebral palsy, or problems in cognition, memory, or behaviour.

    In the UK, some hospitals cool babies with mild encephalopathy, and others do not. The aim of this study is to examine whether cooling therapy is beneficial to babies with mild encephalopathy.

  • neoAMRO

    Neonatal Antimicrobial Resistance and Outcome

    Infections are an important cause of deaths in babies during their first weeks of life. Infection is typically non-specific in presentation. This means clinicians must start antibiotics early and “guess” which antibiotics to use. We know from our surveillance network that in 10-20% of cases the antibiotics chosen will not be the correct ones. A small study showed that when this mismatch occurred the babies had a high mortality. We wish to collect information on neonatal infections, identify the pathogens associated with deaths and determine if gaps in optimal antibiotic treatment are related or lead to poor 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

    Phenotyping Of Rare Genetic Overgrowth Disorders

    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

    The Identification and Characterisation of Inherited Predispositions to Colorectal Tumours (CORGI) 2

    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

    Precision Genetic Counselling and Reproduction (PREGCARE): Measuring the Recurrence Risk of Serious Genetic Disorders to Inform Parental Decision-Making

    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

    Flagship Study Exploring Needs, Technical Aspects and Quality Assurance of RNA Analysis as a Means to Interpret Sequence Variants of Unknown Significance

    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)

    EDEN - Prospective Study of Autism Emergence From Infancy in Neurofibromatosis Type 1

    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)

    Genetic Factors in Frontotemporal Dementia (FTD) and Young Onset Dementia

    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

    SCOTTY Study - Whole Genome Sequencing Study of Young Colon Cancer Patients and Their Parents

    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.


    Solving The Unsolved Rare Diseases

    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.

  • AIP

    Genetics of endocrine tumours

    This study aims to identify genes (part of our cells which carry inherited information) and proteins, which play a part in the development of endocrine tumours.