rare UNDERSTANDING
T he birth of a child should be a happy and exciting experience for new specialists run test after test. In many cases, scientists and medical professionals still cannot make a diagnosis. The earlier the diagnosis, the better for these sick babies. Early diagnosis affords them the benefit of disease management and treatment that could potentially avoid the worst effects of their disease or disorder. It might also shorten the length that infants stay in the NICU and the number of tests to which they are subjected. parents. Unfortunately, some parents learn something is wrong with their newborn that doctors have no answer for. Many critically ill newborns spend months in the neonatal intensive care unit (NICU) while
For babies with signs of a potential rare disease that cannot be identified with standard newborn screening and genetic testing methods, genome sequencing is emerging as a valuable tool for disease diagnosis. HudsonAlpha Faculty Investigator Greg Cooper, PhD , and his lab are experts at using genome sequencing to diagnose rare diseases. Over the past decade, Cooper’s lab, along with many collaborating labs, sequenced the genomes of more than 1,790 children with rare diseases, affording diagnoses to about 27 percent of patients. They recently relied on this expertise to answer the question: How early in a child’s life can we diagnose neurodevelopmental disorders?
To increase yield, members of the Cooper Lab, like Candice Finnila, PhD, reanalyze data with new technology, submit genes to Genematcher ® , and use the best sequencing technology
DIAGNOSTIC YIELD ACROSS PROJECTS
18 % PATHOGENIC
55.5 % NO RETURNABLES
9.5 %
LIKELY PATHOGENIC
17 % VUS
HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY
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