Unraveling Childhood Illnesses

Mustafa Khokha in the Khokha Lab

For a study on the genetic underpinnings of neonatal and childhood critical illnesses, the OnCore team helped Mustafa Khokha, MD, associate professor of pediatrics (critical care) and genetics, create a biorepository.  Khokha and his team are managing and tracking blood and biospecimens of children with critical illnesses and their families in OnCore, Yale’s clinical research management system. The study aims to pave the way to develop better treatments of congenital malformations, immunodeficiencies and other disorders that are on the rise and are therefore having an increasing impact on child health.

“I see so many babies with birth defects, but there was no way for me to study what was wrong with them,” said Khokha. “Now, with genome sequencing, that’s completely changed.” Khokha was part of a team that helped identify a genetic mutation affecting three family members – one of whom died -that had never before been described. This discovery enabled Yale physicians to devise a personalized treatment plan for one of them that saved his life. 

The biorepository provides access to samples that investigators can potentially use for studies utilizing such techniques as exome and whole genome sequencing that can help them identify and treat critical and/or unexplained illnesses. YCCI also provides coordinator assistance, staff training and regulatory support to Khokha’s team.