At Takeda, Linguamatics’ Natural Language Processing (NLP) software is used for systematic examination of gene-disease associations. Dr. David Merberg will discuss the value of text analytics for the identification of genetic mutations, genotype-phenotype association and disease severity, in order to develop a better understanding around the biology of rare diseases.
This webinar will focus on addressing these challenges in Hunter Syndrome. This rare disease, also known as Mucopolysaccharidosis II, is caused by an X-linked deficiency in iduronate-2-sulfatase. Deriving systematic annotation around patient genotypes for disease-specific mutations, and correlating these to efficacy scores, immunogenicity responses, etc. can offer tremendous insight into patient genotype-phenotype relationships, as well as patient genotype-outcome relationships. Using NLP, these relationships have been extended to patient registries to fulfill reporting requirements to regulatory bodies. This approach will now be applied to the analysis of other rare diseases.