Uncovering the causes of developmental delay

“Developmental delay” is a diagnosis applied to tens of millions of people – up to two percent of the population. However, there are many different causes of developmental delay, and knowing the actual cause can lead to better therapies and treatments.

That’s where HudsonAlpha is leading the way. For the last several years, a team led by Greg Cooper, PhD, has conducted a program called CSER (Clinical Sequencing Exploratory Research) that utilizes whole genome sequencing to pinpoint the exact genetic causes of developmental delays in patients.

“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,” notes Cooper.

To date, nearly 400 families have participated in the program, which is coordinated with UAB Medicine’s North Alabama Children’s Specialists in Huntsville, Ala. Pediatric neurologist Dr. Martina Bebin identifies potential participants for sequencing, and samples are sent to Dr. Cooper’s team for analysis and interpretation.
Dr. Cooper recently penned an article on the CSER project and its findings for OnMedicine, BioMed Central’s blog network. Additional research analysis and the study’s methodology can be found in a paper published recently by the HudsonAlpha and UAB Medicine team in Genome Medicine.