August, 2023

Large Study Shows Genomic Analysis Leads to Rapid Diagnoses in Infants with Epilepsy

An international study, co-led by Dr. Annapurna Poduri, Director of the Neurogenetics and Epilepsy Genetics Programs at Boston Children’s Hospital, used rapid genome sequencing on 100 infants to investigate the impact of an expedited genetic diagnosis of infantile epilepsy on medical care.

Dr. Poduri explains: “The status quo has been to treat seizures like a symptom and try to find medications that alleviate them. But medications aren’t getting at the underlying causes of epilepsy.”  This approach is now changing.

The study appeared in The Lancet Neurology with lead author Alissa M. D’Gama, PhD, of Boston Children’s Hospital.

Read article review in Inside Precision Medicine Journal>