Andres Jimenez-Gomez MD Child Neurology Society Tomo Tarui Lisa Emrick Kara Stuart Lewis Monica Arroyo Bright minds and big hearts ❤️ is what we need for baby brains 🧠

Parts of our DNA are painfully repetitive. Some sections of the human genome sequence are so long and repetitive that researchers struggle to put it in the right order. Pretty spooky, right? It’s like a haunted house that never ends!

Fascinating work by Tanjala T. Gipson, M.D. in the characterization of neuropsychiatric phenotypes of TSC. I’m curious about the potential generalizability to other neurogenetic neurodevelopmental disorders. #CNSAM #CNS2022

Rare Disease 2022 Fall Conference #Canada4Rare For more information & registration, visit: lnkd.in/eqrdM_7Z Conference outline: lnkd.in/g7eJJEpJ Patient representative scholarships are available to attend the conference.

Loved the tribute to Dr. Johnston by Tanjala T. Gipson, M.D. at this morning's session- mentors are invaluable to shaping who we become and what we accomplish! Child Neurology Society #CNSAM

Something all should be doing and critical to driving diversity in #ClinicalTrials is talking to #PatientAdvocacy EARLY in #DrugDevelopment. Excellent panel happening now. #GoodScience #RareDiseases #NORDSummit

.@nhnchrd (National Human Genome Research Institute) highlights a lack of diversity is detrimental to medicine, noting "the importance of who we study and the importance of who studies who we study" #NAMmtg

Great Child Neurology Society meeting! More attention to the psychosocial and environmental determinants of developmental health than I ever remember. And not one "monochromatic manel"!

With Lin-Manuel Miranda and our next Attorney General, Rochelle Garza!

podcasts.apple.com/us/podcast/the…

He gets my vote.

These dads drove over 57 hours, livestreamed the cross-country trip on YouTube and raised $156,000 for their kids’ rare genetic disease cnb.cx/3NfUbvH

nytimes.com/2022/11/09/hea…

On Tuesday, November 15 #PacBio is participating in the ASHG Genetics and Genomics Digital Forum. Join us for exciting discussions at this interactive event! Learn more here: learning.ashg.org/ashgforumagenda ASHG

Arterial Spin Labeling: Techniques, Clinical Applications, and Interpretation pubs.rsna.org/doi/10.1148/rg… “authors review the technical and physiologic basis of ASL perfusion, as well as artifacts, pitfalls, and its current clinical applications.“ RadioGraphics

Nystagmus series – Part I (Basic principles) “the two neuro-ophthalmology legends” Richard John Leigh And David Samuel Zee #MedTwitter #neurotwitter #EndNeurophobia #tweetorials 1/

A dominant negative splice-site mutation? Check out this new work from Shridhar Parthasarathy et al. that highlights the importance of considering disease-relevant isoforms in the study of #raredisease bit.ly/3TZ0d5K

New! Pejaver & colleagues present calibration of computational tools for missense variant prediction. ClinGen bit.ly/3XhWWRS

It’s hard to deliver gene therapies to parts of the body where they're most needed, so scientists have turned to specially-engineered viruses to transport genetic cargo. They’ve now developed one that can better deliver to a challenging target — the brain. broad.io/AAV-delivery-n…

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach bit.ly/3ExwJWQ #CME opportunity: Read the article then click on the "CME Course" tab to begin. #NeuroTwitter #Neurology