ICTD-Seq: Exome sequencing of patients with Inheritable Connective Tissue Disorders. Homo sapiens

The ICTD-Seq project has the ultimate goal of generating genetic and molecular evidence that serves as basis for implementing individualized treatment options for each patient. We have created a Chilean Registry of ICTDs to serve as a platform for understanding the effect of genetic modifiers in the clinical course of Chilean patients with ICTDs. By using this approach, we will integrate clinical information from many specialists in a patient-centered database that will also hold significant molecular data (genetic/molecular diagnosis and Whole Exome Sequencing data) with sufficient complexity to enable us to generate relevant genotype-phenotype correlations for the diseases studied. We ultimately seek to interrogate the molecular mechanisms behind this variation through novel, in vitro, genome-engineering techniques and translate these findings into improved treatment of ICTD patients