Major pediatric whole genome sequencing project launched


Specialists have announced the launch of the world’s largest whole genome sequencing and population health project for pediatric patients.

At the ICNA/CNS 2020 virtual conference, Dr Josh Bonkowsky from the University of Utah and the Primary Children’s Hospital in Salt Lake City, USA, provided details of the Pediatric 50K Heredigene project.

The aim of the 5-year study is to undertake a coordinated effort to gain a better understanding of the global landscape of the genetic disease burden in children.

Dr Bonkowsky said neurological diseases are an important focus of the project, which should provide data to help address unmet clinical needs in relatively common conditions such as epilepsy, as well as rare, orphan, and undiagnosed diseases affecting infants and children.

The Primary Children’s Hospital, part of Intermountain Healthcare, is the tertiary referral center for pediatric specialty patients in the states of Utah, Montana, Wyoming, and Idaho, and also parts of other states. With its extensive coverage and electronic data record systems, it is uniquely placed for such a major genetic sequencing project, said Dr Bonkowsky.

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