Diagnostic sequence analysis in patients with renal diseases

Study code

Lead researcher
Ali Gharavi

Study type
Data only

Institution or company
Columbia University Irving Medical Center

Researcher type

Speciality area
Liver, Genomics and Rare Diseases


Genome sequencing is the process of finding out the order of DNA building blocks in a person’s entire genetic code. Recent progress in this technology has enabled scientists to identify variations (changes) in different genes (the traits inherited from our parents, most genes code for a protein with a specific function in the body) that are underlying causes for many diseases.  Our research group studies one of the most common genetic diseases - chronic kidney disease (CKD). CKD affects approximately one in ten adults. Currently, most researchers investigate variations in the protein-coding region of genes (exons) because most known mutations (change in a DNA code) associated with diseases occur as changes to the proteins. However, researchers have found that DNA variations outside exons, known as the noncoding genome, can also affect gene activity leading to genetic disorders. We aim to create a tool that can uncover these DNA variations in this less studied area of the genome linked to CKD disease. This tool will help to discover novel genetic contributions in CKD and enable further research into the underlying causes of CKD.