Misako Yamazaki

Misako Yamazaki is developing a marketable molecular biology solution that can be used for clinical diagnosis. The new analytical method will be applicable to all types of single nucleotide polymorphism (SNP) analysis, including the rapidly growing clinical field of pharmacogenetics. The detection of SNPs is crucial for the treatment of human diseases and other clinically important problems, as SNPs in the genome can influence the efficacy of drugs and lead to the development of cancer.

Currently, several methods for the detection of SNPs are in development but there is no golden standard yet. Therefore, the analysis of genomes for SNPs are not standardly available and will only be implemented in hospitals where the specific devices, know-how and trained operators are available.

Misako Yamasaki and her team have developed an efficient method capable of detecting these minute sequence variations in nucleic acids, representing a significant advancement in accuracy, flexibility and simplicity compared to existing methods. The flexibility of their method makes it easy for a hospital to broaden the usage to the analysis of many genes once it is implemented for an initial gene. This approach shows promise for expanding the application of SNP detection, aiding healthcare providers in diagnosing previously overlooked diseases and making treatment decisions tailored more closely to individual needs.

During her Fellowship, Misako will establish assays and benchmark them with the current methods to obtain the clinical certification of the tests. In addition, the team is plans to collaborate with medical device manufacturers to enhance the automation and higher throughput of sample handling. The goal is to offer the technology to hospitals scientists across diverse fields through the spin-off company PRIMA genetics.

Affiliation: Ph.D. Dr. med. Jakob Nilsson

Start date: 03/2024