Institute website

Evani studies the human genetic disease Immunodeficiency, Centromeric instability, Facial anomalies (ICF) syndrome, the first example of a human disease linked to a defect in DNA methylation. Evani has discovered that there are two classes of ICF patients. In ICF type 1 patients, certain regions of the DNA lack methylation due to a faulty DNMT3B protein, which normally methylates DNA. ICF type 2 patients also have a deficit in DNA methylation; however, their DNMT3B protein is normal. Evani is trying to identify the gene responsible for ICF type 2 and hopes that her work will eventually contribute to a therapeutic strategy.