Approved Research

Characterizing the association and causation between novel open reading frames and disease.

Lay summary

To understand how specific changes in a person's DNA can cause disease, scientists rely on a "map" of annotations that describes which portions of the genome contain instructions for making which proteins. The standard map scientists use for this purpose has only 2% of genomic regions filled in with protein-coding annotations. However, many additional regions have the potential to code for proteins.

For this project, we plan to compare a map of new protein locations with the genetic information of participants in the UKBiobank Project. Our aims are to:

1. Identify groups of healthy individuals those affected by similar diseases that can be compared to each other.
2. Determine which novel proteins are changed or missing in both groups of participants.
3. Use statistics to determine which of these novel proteins are likely connected to each disease.

Finding these novel proteins that are associated with disease will allow scientists to identify new ways to develop therapies that might help people suffering from those diseases.