Identifying Rare Diseases With Genome Analysis

Personalized medicine is increasingly becoming a reality, led by the idea that knowing more about genome will help customize the proper treatment, especially where rare diseases are concerned. Sequencing is the first step to learning more about a disease or a genetic pre-disposition, but the analysis step is where the valuable information comes from. Recently, we learned how studying human tissue can teach us about rare disease, but today we will look into how genetic analysis can help diagnose a rare disease.

One of our donors to the Rare Disease Science Challenge, Ingenuity Systems, is donating a service that analyzes genomes by identifying variants in a genome, in particular those that are known to cause problems. The technology can integrate disease models, expression data, or drug responses into the system to look at genome variants from a variety of angles. The power of this system was used to analyze a rare disease called Craniosynostosis.

The system identifies variants that are predicted to be deleterious and are expected to perturb a biological process or pathway. The system identifies variants that are consistent with the genetics in this study: recessive inheritance pattern. The system also identifies variants that have a relevant causal network — variants that are expected to exert pressure on genes or pathways/sub-networks known to be associated with Craniosynostosis.¹
By inputting more data and filtering out unneeded information, Ingenuity can identify a genetic cause for rare disease as well as provide a greater foundation for future treatment development.

As we’ve seen, the first step to treating a problem is identifying it. Rare Genomics Institute, our partners for the Rare Disease Science Challenge, also seeks to help with this problem, but in a completely different way. Instead of offering the software to analyze complex genomes, RGI helps sequence and analyze undiagnosed children with the aid of crowdfunding. People around the world can donate to a sick child in hopes of discovering treatments. We are proud to be working with Ingenuity Systems and RGI to fight rare disease.