Developing a framework for performing genotype-phenotype analyses using a real-world data platform
Elucidating genotype-phenotype correlations in rare disease is critical in guiding management and facilitating drug development. However, for rare diseases such as MPS type III (Sanfilippo syndrome) and CDKL5 deficiency disorder (CDD), obtaining medical records across multiple care facilities can prove difficult. See how the AllStripes real-world data (RWD) platform can be used to structure genotypic and phenotypic data and develop disease insights. This poster was presented at the National Society of Genetic Counselors (NSGC) 39th Annual Conference in November 2020.