The Molecular Pathology of Human Genetic Disease (“HumGenDis”) Study
Molecular Pathology of Human Genetic Disease (“HumGenDis”), IRAS project ID 50895; Chief Investigator: E.R. Maher) 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
HumGenDis is a Musketeers Memorandum study (https://www.nihr.ac.uk/explore-nihr/specialties/genomics-and-rare-diseases.htm) and appears on the UKCRN portfolio. Recruitment is through regional genetics centres and there is no limit to the recruitment.