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.

Featured Speakers

David Merberg

Senior Scientist, Computational Biology
Takeda Pharmaceuticals International

David Merberg is a Senior Scientist in Computational Biology at Takeda Pharmaceuticals International Boston location. He is currently focusing on the application of computational methods to drug discovery in Rare Diseases. David has a wide range of experiences in computational biology, having played key roles in the establishment of infrastructure for Next Generation Sequencing and Translational Bioinformatics at Takeda.  His previous experiences include roles in both small biotechnology large pharmaceutical companies employing computational methods for proteomics, natural language processing, bioassay data analysis, and data management.

Jane Reed

Director Life Science
Linguamatics, an IQVIA company

Jane Reed is Director Life Science at Linguamatics, an IQVIA company. She is responsible for developing the strategic vision for Linguamatics’ product portfolio and business development for the pharma and biotech market. Jane has extensive experience in life sciences informatics. She has worked for more than 20 years in vendor companies supplying data products, data integration and analysis and consultancy to pharma and biotech - with roles at Instem, BioWisdom, Incyte, and Hexagen. Before moving into the life science industry, Jane worked in academia in genetics and genomics research.

Ryan Hulscher

Application Scientist
Linguamatics, an IQVIA company

Ryan Hulscher is an Application Scientist at Linguamatics, an IQVIA company. He has worked on many customer projects, covering topics throughout the pharmaceutical drug-development pipeline. Ryan enjoys applying NLP techniques to diverse data sources to extract valuable insights and help customers solve a wide range of challenges. Before joining Linguamatics, Ryan worked in academia doing molecular biology research.


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