Epilepsy Genetics Program

Dr. Ann Poduri, a neurologist here at Boston Children’s Hospital, spoke about her epilepsy research at Fenway High School today in Boston as part of Massachusetts STEM Week! The kids learned about genetics and heredity, how genes can help provide answers to families, & more! 👏

Thrilled to share our paper in @TheLancetNeuro demonstrating the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy, with many thanks to the families who participated thelancet.com/journals/laneu…

Clinical utility documented for 98% of infants with new genetic diagnoses, including directly informing treatment in 56% of cases. These findings point to the feasibility and utility of rapid genome sequencing implementation for new-onset epilepsies in infants.

Genetic diagnoses were identified for 43% of infants with new-onset epilepsy through rapid whole genome sequencing, with a median time from seizure-onset to diagnosis of 37 days.

Congratulations to the IPCHiP consortium on the first Gene-STEPS publication including multiple Poduri lab members!🧬 thelancet.com/journals/laneu…

This is incredibly important work and we are so grateful to have her on our team! pubmed.ncbi.nlm.nih.gov/36840411/

Congratulations to Rozalia Valentine for her recent publication titled, "Disclosure and comfort during genetic counseling sessions with LGBTQ+ patients: An updated assessment," in the Journal of Genetic Counseling.

This posting is specifically for bilingual Spanish-speaking applicants for the Clinical Research Assistant position. jobs.bostonchildrens.org/job/17677318/c…

This posting is for the Clinical Research Assistant position. jobs.bostonchildrens.org/job/17677317/c…

We are hiring 3 new Clinical Research Assistants! If you know of any recent or future graduates who are interested in the genetics of epilepsy and want to pursue a career in epilepsy genetics or a related field, please have them apply here!

In a review of 154 studies and a practice guideline, @Beth12518007 & Lacey Smith conclude that genome or exome #sequencing should now be viewed as first-line tests for unexplained #epilepsy. ms.spr.ly/6012eo6RK cc @BCH_PoduriLab

Thank you @Spectrum for recognizing me as a rising star in autism research! And thank you to my mentors @ChrisAWalsh1 @BCH_PoduriLab @timyu 🧠🧬

@BCH_PoduriLab’s Lacey Smith giving her Skills Workshop in variant testing in the epilepsies at #AES2022 @DrDaniAndrade @AmEpilepsySoc

Our team had so much fun teaching, learning, and exploring at #AES2022 in Nashville and #TARGET in Memphis!!

Our own Lacey Smith and colleagues have published the first practice guideline for genetic testing in the epilepsies. There are now formal recommendations that include broad-based testing for all individuals with unexplained epilepsy! Check it out here: doi.org/10.1002/jgc4.1…

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy ja.ma/3VVdeiG via @JAMANeuro part of @JAMANetwork A systematic review by Sid Srivastava @BostonChildrens @iddrc_bch on together with @BCH_PoduriLab @drbhooma and Michael Kruer

We are excited to see Dr. Sid Srivastava's meta-analysis of genetic testing for patients with CP published in JAMA Neurology (punchline: the yield is higher than you might expect) jamanetwork.com/journals/jaman…

Thank you @AAPneonatal! Honored to receive the Marshall Klaus Award to support my research @BCH_PoduriLab 👶🏻🧠🧬 and thank you @genguyolmd for the 📸! @BCHNewbornMed

Came back from #CNSAM, presenting posters (coincidentally) side by side with @chrismcgraw82 @BCH_PoduriLab mate in the inaugural RSZ-TNC Symposium. Talks and panel discussion on the state-of-the-art AAV- or RNA- based #genetherapy by @iddrc_bch @FMKirbyNeuro @sahin_m