Approved Research

Estimating genetic prevalence of rare metabolic diseases in UKB

Lay summary

This proposal aims to calculate the frequency of changes in the DNA sequence for genes that cause rare diseases of metabolism. These estimates can be used to infer the prevalence or genetic risk for diseases among the individuals participating in the UK Biobank project. There is a need for such genetic studies since the prevalence of a disease is typically estimated from clinical assessment which can be biased due to the different nature of patient enrolment. Moreover, clinical estimates are made from cases that may be recognized and confirmed only when severe symptoms occur, thus patients with milder form of the disease might be overlooked and not included in the calculation. Thus, disease prevalence that are calculated from such clinical studies may be lower than expected. The duration of the project is 36 months and will have a significant impact on public health and for the scientific community. A better understanding of disease prevalence will generate and drive programs or strategies for early disease recognition and treatment. This will translate into better management of disease course and patient life quality, in addition to socio-economic benefits.