Treating children with epilepsy has traditionally been a matter of trial and error, trying different drugs one after the other. In the one-third of patients for whom the drugs do not work and seizures continue, doctors consider brain surgery—if it can be done safely.
Early in her career, Ann Poduri, MD, MPH, who directs the Neurogenetics and Epilepsy Genetics programs at Boston Children's Hospital, wondered: What could be learned from the brain tissue removed during surgery? Could it yield a better genetic understanding of"If we could know what caused epilepsy for these individuals, maybe we could actually treat them with science on our side," she says.
Poduri's passions also lie in making genetic diagnoses accessible to families routinely, with as little delay as possible."Early diagnosis means children don't have to keep having MRIs and spinal taps," she says."With a Whole-genome sequencing is also not the norm in the clinic. Typically used only in a research setting, it is more expensive than whole-exome sequencing, which looks only at the DNA sequences, or genetic material, that code for proteins. But it can solve more cases, identifying mutations in regulatory elements and duplications and deletions in the genome that can also cause disease.
being tested. Overall, sequencing was clinically useful for 55% of the entire cohort, whether families received a diagnosis or not, and whether the prognosis was good or poor.is feasible in multiple care settings. Diagnostic yields were 30% for infants seen in the outpatient setting, 44% for infants admitted to non-intensive inpatient care, and 71% for infants in intensive care.
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