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.
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.
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
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 (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.
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 “Next Generation 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.
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.
Over 900,000 new cases of prostate cancer are diagnosed worldwide every year. Studies have indicated that men who carry certain gene mutations are more susceptible to prostate cancer than men without a mutation. It has also been suggested that mutations may in some cases cause more aggressive prostate cancer.
The aim of this study is to follow up a group of men who have prostate cancer and who are known to have a mutation in a prostate cancer predisposition gene. The information we collect will be used to determine whether there are differences in the aggressiveness of the disease. Ultimately the aim of this research is to help improve our understanding and enable us to give better treatment advice to men receiving a diagnosis of prostate cancer.
Molecular Pathology of Human Genetic Disease is a well established study that aims to recruit participants with suspected or known genetic disorders to study genetic aetiology, natural history and predictors of outcome.
HumGenDis It is not restricted to any particular phenotype or condition but currently the major topics of interest are:• Inherited Renal Cell Carcinoma (RCC)• Inherited Phaeochromocytoma/Paraganglioma (PPGL)• Multiple Primary Tumours• Methylation alterations in congenital imprinting disorders (e.g. Beckwith-Wiedemann syndrome, Silver-Russell syndrome) and chromatin disorders• Wild type Gastrointestinal Stromal Tumour
The PURA Global Network. Understanding PURA syndrome. PURA Syndrome Longitudinal Natural History Study (a Musketeers Memorandum study). This is a longitudinal natural history study, aiming to collect medical data on individuals with PURA syndrome, in the hope that this will improve our understanding of the effects of PURA syndrome. If you or someone you care for has PURA syndrome, you can contact the research team on 0151 702 4346.
The impact of copy number variants on cortical network dynamics. This study is investigating the link between copy number variants (small changes in chromosomal structure) and the risk of neurodevelopmental conditions including schizophrenia. If you are eligible, you may be invited to travel to Cardiff to undertake some tests and scans. If you have any questions or are interested in taking part, please contact the research team on 0151 702 4346.
Impact of Personalised Genetic Counselling for couples with a child affected by a disorder caused by a de novo mutation. This study is investigating the experiences of parents of children with de novo genetic mutations who have received either the current NHS standard of care or who have received a personalised recurrence risk for future pregnancies through the previous PREGCARE study. If you have a child with a genetic condition caused by a de novo genetic change and would like to take part in an interview, please contact the research team on 0151 702 4346.