RSE/CRF Biomedical Personal Research Fellowship Award

Dr Shipra Bhatia from the MRC Human Genetics Unit at the IGMM has been awarded a five year RSE/CRF Biomedical Personal Research Fellowship for a project entitled ‘Decoding the functional relevance of cis-regulatory variation in human diseases’.

Approximately 99% of the human genome regulates gene expression rather than coding for proteins. Understanding how these regions of the genome works is of vital importance for human health - it has been demonstrated that genetic changes in these regions result in incorrect gene expression, leading to a variety of human diseases.

Differentiating the disease-causing sequence changes in noncoding regions from the background sequence variation observed in the normal population can be a challenge. Dr Shipra Bhatia’s research aims to explain the role of the noncoding-element mutations associated with mental retardation and other complex human diseases using a zebrafish model. It is hoped that the research will lead to the development of improved disease treatments or preventive approaches.