Multidisciplinary, translational #epilepsy #genetics clinical care and research team @BostonChildrens. Disclaimer: https://nitter.cf/t.co/z1MUJBFDdD
Boston, MA
Joined December 2019
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Epilepsy Genetics Program retweeted
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! 👏
Epilepsy Genetics Program retweeted
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…
Congratulations to the IPCHiP consortium on the first Gene-STEPS publication including multiple Poduri lab members!🧬
thelancet.com/journals/laneu…
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 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 is incredibly important work and we are so grateful to have her on our team!
pubmed.ncbi.nlm.nih.gov/3684…
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!
This posting is for the Clinical Research Assistant position.
jobs.bostonchildrens.org/job…
This posting is specifically for bilingual Spanish-speaking applicants for the Clinical Research Assistant position.
jobs.bostonchildrens.org/job…
Epilepsy Genetics Program retweeted
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
Epilepsy Genetics Program retweeted
Thank you @Spectrum for recognizing me as a rising star in autism research! And thank you to my mentors @ChrisAWalsh1 @BCH_PoduriLab @timyu 🧠🧬
Congratulations to all of the researchers who are featured in this year's 40 under 40 list. Are there any not on our list whom you would have nominated?
bit.ly/3WAGpY2
Epilepsy Genetics Program retweeted
@BCH_PoduriLab’s Lacey Smith giving her Skills Workshop in variant testing in the epilepsies at #AES2022
@DrDaniAndrade @AmEpilepsySoc
@IngoHelbig kicking off the very last #AES2022 session. #Genetic testing in epilepsies in peds. Then Lacy Smith will talk about details of genetic testing interpretation. I’ll finish up talking about 🧬 test in adults!
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/jgc4.1646
Epilepsy Genetics Program retweeted
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/jam…
Epilepsy Genetics Program retweeted
Thank you @AAPneonatal! Honored to receive the Marshall Klaus Award to support my research @BCH_PoduriLab 👶🏻🧠🧬 and thank you @genguyolmd for the 📸! @BCHNewbornMed
Congrats to my co-fellows @alissadgama and Stephanie Tung on the @AAPneonatal Marshall Klaus Award! @BCHNewbornMed
Epilepsy Genetics Program retweeted
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
