Researching Genetic Causes and Effects of Skeletal Diseases Using Genome and RNA Sequencing

What this Trial Is About

This research aims to find genetic causes of unexplained congenital skeletal disorders GSDs and better understand their natural development and complications. It is a 5-year project involving collaboration among genetic and bone research institutions. The study focuses on participants with unsolved GSD diagnoses, using advanced genetic testing to identify new gene variants and study their effects in cells and animal models. The goal is to improve diagnosis, knowledge of disease mechanisms, and future treatment strategies for skeletal diseases. Participants include a well-characterized group of 300 individuals with GSD, including 120 with unknown diagnoses. Researchers use whole genome sequencing and RNA sequencing to search for molecular causes. Candidate gene variants are selected with support from clinical findings and large genetic databases. The effects of new variants are studied both in laboratory cells and in transgenic mice to understand their role in disease. During the study, data on the genetic changes, clinical features, and complications of different GSD groups are collected and summarized. The project tracks new gene discoveries and gathers information about the natural course of rare skeletal disorders. This information aims to help develop personalized follow-up and treatment plans. Participation involves genetic sample analysis and clinical data review, with an overall focus on advancing scientific knowledge about skeletal diseases over the 5-year period.

Decoding the Genetic Landscape of Skeletal Diseases