Screening rare genetic conditions in newborns

The Goal:

The GUARDIAN Study would like to raise funds to allow the team to obtain a booth at the ASHG (American Society of Human Genetics) conference. The booth would allow the team to expand awareness and education on screening rare genetic conditions for newborn babies.

What is the GUARDIAN Study:

The GUARDIAN Study screens newborn babies for 250 genetic conditions not included in standard newborn screening. The point of the screening is to catch genetic conditions early on in life, making treatment or other forms of support accessible earlier. Many of the genetic conditions tested aren’t diagnosed until ages 7-8 or even 17-18, so an early diagnosis and proper care can lead to a more comfortable and healthy life for both the children and parents. GUARDIAN Study screening is free, making early diagnosis more accessible. Screening is done using the same samples taken from standard newborn screening. The GUARDIAN Study also hopes to encourage the expansion of newborn screening through genomic sequencing.

Donors will be emailed after the conference to update on how the funds were spent.