I am a student in the integrated program for Computer Sciences and Computational Biology,
School of Computer Science and
Hebrew University of Jerusalem .
My advisors are Dr. Liran Carmel and prof. Ariel Darvasi (Department of Genetics).
Current estimates suggest that 50-60% of genetic diseases are due to splicing mutations. These mutations can occur within a variety of targets along the gene. Among these targets, the most prominent are splicing regulatory elements which regulate the process with the aid of related factors. Some of these elements are already known, but many are yet to be discovered.
Identifying such regulatory sequences is important as mutated splicing elements that induces a disease, may serve as a basis for developing a cure (using gene therapy techniques). In addition, recent efforts have led to the identification of genomic loci with strong statistical support for predisposition toward several of diseases. Though these studies recognize candidate mutations (known as Single Nucleotide Polymorphisms or SNPs), they don't provide a functional explanation. One likely explanation could be splicing interference. I'm interested in identifying splicing-related mutations associated with a given disease.