Since 2013, HudsonAlpha Institute for Biotechnology has led a large-scale DNA sequencing project to identify genetic variants that cause developmental delay in children. Results from the study are published online today in Genome Medicine along with a blog post by Greg Cooper, PhD, a HudsonAlpha faculty investigator who has provided leadership for the project:
Developmental delay affects 1-2% of children worldwide. Symptoms often associated with developmental delay include impaired cognition, failure to meet developmental milestones, craniofacial and skeletal abnormalities, autism, and seizures. These disabilities can pose major medical, financial and psychological challenges.
Specific diagnoses for children with developmental delay are in many cases elusive, and the lack of a diagnosis is a major hardship for patients and their families. Inaccurate or unavailable diagnoses can result in years of expensive, invasive, and futile testing that complicates treatment decisions and may also lead to anxiety and emotional distress. Moreover, not knowing the reason for specific developmental delays slows research into improving therapeutic or educational options.
In an effort to end the diagnostic odyssey for children with developmental delay, we have employed large-scale DNA sequencing to identify specific genetic variants that are causally relevant to developmental disabilities. As part of the NHGRI-funded Clinical Sequencing Exploratory Research Consortium, we began enrolling affected children into our study in 2013. Thus far, we have sequenced 371 children who present with developmental delay, and we have found the genetic cause – and thus contributed to more precise and definitive clinical diagnoses – in 27%.
In addition to Cooper, HudsonAlpha researchers who contributed to the project and the Genome Medicine paper include Rick Myers, PhD, president, science director and faculty investigator; Greg Barsh, MD, PhD, faculty investigator; Neil Lamb, PhD, vice president for Educational Outreach; Kevin Bowling, PhD; Michelle Thompson, PhD; Michelle Amaral, PhD; Candice Finnila, PhD; Susan Hiatt, PhD; Krysta Engel, PhD; Nicholas Cochran, PhD; Kelly East; David Gray; Whitley Kelley; Jana Whittle; Benjamin Weaver; and Amy Nesmith. Kyle Brothers, MD, PhD, and Carla Rich, both of the University of Louisville; Edward Lose, MD; Shirley Simmons; and Martina Bebin, MD, all of the University of Alabama at Birmingham, collaborated with HudsonAlpha on the project.