Development of a High-Throughput Sensor Library to Correct Over 60% of Known Pathogenic Variants in WS

Principal Investigator Dr. Samagya Banskota, Boston, USA

• This project will attempt to make gene editing available to all WS patients who have a variant that involves a single base pair change (missense variant). Over 60% of people with WS with documented genotypes may benefit from this strategy.
• This approach is important because a single attempt at gene editing for WS, right now, will only treat one patient/variant at a time.
• This work by Dr. Banksota will attempt to create a “Platform” approach in which the basic gene-editing “machinery” will be the same, only the specific variant to be corrected will differ. In this way, the same drug/treatment could be used for over 60% of people with WS, regardless of their many different variants.
• Such a platform approach will save many millions of dollars in drug development costs and many years of drug development time.
• This project is very timely, given the gene editing preclinical data being generated now and in the near future by Drs. Urano, Banskota, and De Groef. If successful, this platform library will open the door to applying this same technique to all WS patients with missense variants concurrently in a potential gene editing/base editing clinical trial for WS.