Neurodevelopmental Disease Research

Finding out your child is suffering from a disease that can’t be named is devastating.

Roughly 2.8 million children struggle with rare genetic disorders that lead to physical, mental, or behavioral disabilities or delays, and the road to diagnosis can be long.

70% of children admitted to pediatric intensive care units struggle with a genetic condition. For these children, having a diagnosis in hand can drastically improve their treatments, care plans, and overall outcomes.

Greg Cooper, PhD, Faculty Investigator, and his team are working to improve diagnostics for rare disease, especially those related to childhood genetic disorders. Using data from genome sequencing, Cooper’s lab develops computational tools and algorithms to identify changes in the genome that are related to a child’s symptoms.

We have sequenced over 1,900 children and returned a diagnosis to hundreds of families.

Because technology and the body of knowledge on genetic information is always growing, Dr. Cooper’s team also uses cutting-edge computational technology to reanalyze patients whose genome sequencing did not originally yield results. Through this reanalysis program, diagnoses have been returned to families that would not have been possible to diagnose just a few years ago.

“My lab’s aim is to move clinical genetics forward and eliminate the long diagnostic odysseys that patients with neurodevelopmental diseases often have to go through. Access to personalized genetic information can also help clinicians form more effective treatment plans, and connect families to support groups and others affected by the same condition.” – Greg Cooper, PhD, Faculty Investigator

HudsonAlpha depends on philanthropy to fuel this vital research.

Make a gift that changes lives and gives families the answers they need by making a donation to the HudsonAlpha Foundation.

The HudsonAlpha Foundation, a 501(c)(3) nonprofit organization, is the supporting entity for the HudsonAlpha Institute for Biotechnology. Your gift supports the Pediatric Genomics research, part of the Scientific Advancement Fund. Tax-deductible contributions to the Foundation are for the sole purpose of advancing the mission of the HudsonAlpha Institute for Biotechnology.

Tax identification #27-2320591.