DOC Fellowship: Investigating the genetic alterations behind profound immunodeficiencies.
Rare genetic alterations can derail immune development, causing immunodeficiencies and increasing the risk of childhood cancer. Hena Hadzimujagic, a PhD student in Kaan Boztug’s lab, has been awarded a prestigious DOC Fellowship by the Austrian Academy of Sciences to investigate the molecular mechanisms behind one of these extremely rare disorders.
In Simple Terms
– Developmental errors affecting immune cell formation can lead to severe immunodefficiencies.
– Some of these errors are very rare and the mutations causing them remain understudied.
– In her project, Hena will study a rare genetic mutation in a structural protein that causes severe immunodeficiency in a patient.
The different cells of the immune system develop through a tightly regulated process that begins in the womb. Disruptions to this process can leave certain cell types impaired or entirely absent, resulting in severe immune defects, such as an inability to protect the body against specific pathogens. Some immunodeficiencies can also increase the risk of cancer in children.
With her DOC Fellowship, Hena Hadzimujagic will investigate a rare genetic mutation affecting a structural protein that causes severe immunodeficiency in a patient. By studying the protein’s role in normal immune cell development, she aims to uncover how its loss disrupts the formation of the immune system and ultimately leads to this rare immunodeficiency.
“It is a great honor to be funded by the Austrian Academy of Sciences,” says Hadzimujagic. “At the end of the day, our goal is to understand the molecular causes of disease so we can help pave the way for targeted gene therapies for the patients.”