Approved Research

Obtaining supportive evidence from the UK Biobank to unravel disease-gene associations and the role of human genes in monogenic disorders

Lay summary

At the core of our research is the commitment to refine and expand the discoveries emerging from patient-centric projects at the Translational Genetics and Genomics Research Laboratory in Tel Aviv Sourasky Medical Center. The project aims to improve our understanding of rare genetic disorders that are caused by changes in a single gene, known as monogenic disorders. Although rare, these conditions can significantly impact those affected and their families. Our research seeks to delve deeper into the genetic causes of these disorders, which is crucial for developing better diagnostic tools and treatments. Furthermore, these rare conditions are the starting point to learning more about novel pathways and complex common conditions. The ultimate goal is to employ the newly gained knowledge for developing novel therapeutics.