snobank

We aim to streamline the rare disease treatment identification process. Input your disease and receive a collection of the most common CRISPR-targetable mutations. Skip deep searching — meet snoBANK.

Searching across multiple databases, trying to connect multiple variants, organizing and remembering minute details about complicated gene IDs – we found that navigating the online research process is time consuming, confusing, and tedious. Flipping these challenges around, we felt inspired to re-design how researchers navigate these databases, creating snoBank to act as a one-stop-shop in connecting disease, mutation, and therapy.

snoBANK allows for an ease of access search database that allows researchers to determine specific genetic mutants for rare diseases that can be treated through the use of currently available and developing genome editing techniques.

We used the OMIM dataset to map diseases to genes. From these genes, the associated pathogenic variants were identified from ClinVar. Then, our program searches the genome sequence for PAMs near these areas to give candidate guide RNAs.

Limiting the search to specific genetic variants of rare diseases was, at certain points, hard to delineate. Many rare diseases are not caused specifically by genetic mutations in a patient's genome, and can instead be due to factors like chromosomal oddities or misplaced epigenetic modifications like DNA methylation and histone acetylation in regulatory regions.

In restricting our results to diseases that could be treated through the use of CRISPR modalities, we had to ensure that we focused on rare diseases caused by variants at the sequence level. This necessitated careful curation of publicly available databases on our end so that users could reliably identify actionable treatments.

Further expansion into new CRISPR techniques, such as CRISPR cas13 effectors, as well as RNA based therapeutics will widen snoBank. Our goal is to address all genetic diseases by understanding the mutation present, the most applicable therapy, and the estimated efficacy.

Built With

• clinvar
• ensembl
• omim
• pandas
• python
• tooluniverse