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Approved research

Replication of genetic risk factors in sporadic Creutzfeldt-Jakob disease

Principal Investigator: Professor Simon Mead
Approved Research ID: 41574
Approval date: March 26th 2019

Lay summary

The MRC Prion Unit Human Genetics Group investigates why some people, but not others, get prion diseases such as Creutzfeldt-Jakob disease (CJD). We know that variant CJD (vCJD) was caused by human transmission of BSE (bovine spongiform encephalopathy or mad cow disease), a prion disease of cattle. Other people develop a prion disease spontaneously as they get older (called sporadic CJD) while others are accidentally infected with prions as a result of medical or surgical procedures (since prions stick to metal instruments, are very resistant to sterilisation and can also be passed in blood transfusions). By comparing genetic differences between people who developed CJD and healthy people we hope to identify genes that influence why particular people are more susceptible to these diseases, and use this information to better estimate public health risks and to develop new tests and treatments. We also know that the fundamental processes involved in CJD, where one of the body's own proteins becomes misshapen and then forms large clumps of material, are very relevant to other much commoner diseases such as Alzheimer's Disease. We hope therefore that what we learn from studying CJD in this way will have much wider relevance in helping to reduce the burden of degenerative brain diseases which are becoming ever commoner as the average age of the population increases. For this request we are only interested in controls.