Cardiff University

Posted 1 year ago by Wales Gene Park

The aim of the study is to create an international database of psychiatric and cognitive data on children with 22q11.2 deletion, 22q11.2 duplication, as well as 16p11.2 deletion and duplication. The project is led by the Children’s Hospital of Philadelphia. Cardiff University is the coordinating site for the United Kingdom.

 Genetics /  Cardiff University

Posted 3 years ago by Wales Gene Park

We will undertake a prospective study of adult MAP patients with confirmed bi-allelic mutations across collaborating European centres. Data from upper GI surveillance procedures including endoscopy and histopathology findings will be collated as an ongoing process by the Institute of Medical Genetics, Cardiff, UK where it will entered into a database and stored safely. We will also collect prospectively data on other incident cancers diagnosed in these patients. All causes of death and all dates of death will be recorded. Recruitment of patients from the European centres and consent will be obtained using local procedures, and ethical approval will be obtained in each country. As MAP is a rare disorder, and the interval between surveillance procedures may be as much as 5 years, this study is planned to take place over 20 years.

 MUTYH-Associated Adenomatous Polyposis (MAP) /  Cardiff University

Posted 4 years ago by Wales Gene Park

The Genetics of Endocrine Tumours is an observational clinical trial. The study currently has 500 families and 3000 sporadic subjects recruited from almost 50 NHS sites around the country. Any patient with a pituitary tumour is eligible to enrol, though we are particularly interested in the cohort of familial isolated pituitary adenoma (FIPA) patients. FIPA accounts for around 5% of pituitary adenomas with 20% of these patients having a mutation in the gene Aryl Hydrocarbon Receptor Interacting protein (AIP). Our study has helped to characterise AIP and other novel genes that contribute to pituitary tumorigenesis. We are lucky to receive regular bloods and fresh tissue from pituitary tumour patients which are used for DNA/RNA analysis, tissue culture and in-vivo models.

 Genetics /  Cardiff University

Posted 4 years ago by Wales Gene Park

Enroll-HD is a global observational study for Huntington’s disease families The purpose of this study is to collect information from study participants, allowing researchers to understand more about the disease, with the aim of accelerating the discovery and development of potential treatments for Huntington's Disease (HD). It will monitor how the disease appears and changes over time in different people; those who have a clinical diagnosis and those who are at-risk of developing the disease. ENROLL-HD also collects information from HD family members and carers.  

 Huntington's Disease /  Cardiff University

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