Year/Course: 2018-2019, Lent 2019

Inventor: Dr. Luba Chakalova, SNPr
Mentor: Bill Matthews

Complex genetic diseases are influenced by multiple genes, with examples including diabetes, psychiatric disorders and autoimmune diseases. Numerous genome-wide association studies (GWAS) have been carried out to identify the hot spots in the chromosomes which are involved in the pathology of these diseases. These areas are marked by “snips” or single-nucleotide polymorphisms (SNPs) – one-letter changes in the DNA code.

Unfortunately most of the disease-associated SNPs are located outside genes and cannot directly be used for the development of new treatments. Instead, they are linked to regulatory elements – short stretches of DNA that work with specific target genes to regulate their production of proteins in a very tissue-specific way. Therefore if the genetic variation causes an error in the regulation, the wrong amount of protein will be produced, thus affecting a particular genetic disease.

SNPr is a spin-out from Peter Fraser’s lab at the Babraham Institute which has developed a new technique to identify the genes linked to GWAS SNPs. The technique works by looking at the 3D structures of the chromosomes within specific tissues. Using a patented protocol which is the same across all tissue types, they can identify the key genes in a given disease, thus enabling those genes to be used as future targets for drug development.

The question for the i-Team is where this technique is most needed. The i-Team will be tasked with identifying suitable polygenic diseases which do not currently have good treatment options or identified relevant genes, so that they can recommend to the inventor where their approach would have the greatest impact.