Top Tweets for #grin2b
The @GRIN2Bsyndrome Foundation is pleased to announce the availability of their #SeedGrant program to encourage and support patient-oriented research on #GRIN2B Related Neurodevelopmental Disorder! Applications due by Aug 15. Learn more and share: https://t.co/FU3WVryP5X
#Autism #Epilepsy #Microcephaly #Neurodevelopmental #ResearchGrant #NeurodevelopmentalDisorder
๐งฌ๐ Today we celebrate #GRIN2BAwarenessWeek w/ our friends at @GRIN2Bsyndrome, @GrinEurope and @CureGrin! We have 185 participants w/ #GRIN2B-related disorder registered in #SimonsSearchlight.
Find resources, data reports and more on the GRIN2B website: https://t.co/iAVh7ANPj5

This is a great cause to help a child's future. Its better to give than receive during the holidays
https://t.co/xLFpXpQzTm
#gofundme #GRIN2B #HolidayGiving @elonmusk
Wishing my little sister Aurora (sleeping beauty) the best of luck who is now on way to the Evelina childrenโs Hospital for her sleep study #Grin2B #StayStrong weโre going to miss you like crazy #IQSec2 #RareGentics #LittleBee ๐ #Grin2BAwereness @GRIN2Bsyndrome

New paper! Our team developed a new missense variant pathogenicity and function predictor for #GRIN1, #GRIN2A, #GRIN2B & #GRIN2D genes, linked to severe neurodevelopmental disorders (NDDs).
๐to Study: https://t.co/QksP4M1kyf
#bioinformatics #precisionmedicine #genetics

The @S_Searchlight team had a great time participating at the @GRIN2Bsyndrome and @curestxbp1 conferences! ๐ Dr. Taylor & Dr. Calakos shared data updates, and we collected a total of 85 blood samples. Thanks to everyone who participated! ๐๐ #GRIN2B #STXBP1 #RareDiseaseResearch

Updated #GRIN2A GeneReviews article by my colleagues Vincent Strehlow, @lemke_johannes et al. ๐ ๐
Proud that our @hug_leipzig team has now contributed/written all GRIN GeneReviews articles for #GRIN1, #GRIN2A, #GRIN2B & #GRIN2D.
https://t.co/7U13qhUlb7
Mice with variants of the @S_searchlight gene #GRIN2B show heightened sensory sensitivity and an overly connected brain area, the anterior cingulate cortex, according to a new study in Molecular Psychiatry. Learn more: https://t.co/Ljh6N2IGHf #RareDiseaseResearch #AutismResearch

Tweet 1/7: ๐กGlad to announce our latest pre-print. In a close collaboration with @SteveTraynelis team, we wanted to understand variant function in #neurodevelopmentaldisorder & #epilepsy causing genes #GRIN1, #GRIN2A, #GRIN2B and #GRIN2D! https://t.co/ek2SJANP8h
Today ends #Grin2B Awareness Week, always a good excuse to share an adorable photo of me and my niece Lucy, pictures here goofing around with Barbie glasses at an Oscars party. Lucy and only around 649 other people on this earth have alterations to the Grin2B gene...

Two years ago we (labs: @lemke_johannes, @traynelis, Tim Benke & us) developed https://t.co/Qd5YN6b8lW to provide a curated data home for #GRIN1, #GRIN2A, #GRIN2B & #GRIN2D disorders.
We just added a page tracker & were positively surprised by number of users in only 10 days.

Today we celebrate #GRIN2BAwarenessWeek w/our friends at @GRIN2Bsyndrome, grineurope and @CureGrin! We have over 155 participants w/GRIN2B-related disorder registered. You can find educational resources, data reports and more on the #GRIN2B website: https://t.co/iAVh7ANhtx

Welcome to #GRIN2BAwareness Week! #GRIN2B is a gene located on the 12th chromosome & is part of a family of genes responsible for sending chemical messages to the brain. Genetic variations to the GRIN2B gene change how the brain receives these messages.

Registration is now open for the #GRIN2B Foundation Family & Research Weekend in Aurora, Colorado July 19-21! check our website for all event details.
https://t.co/OPvKSEhS6N
Register here - https://t.co/5suFktBDAJ

In line w/ this, anecdotally, o/e constraint score sliders in @gnomad_project shifted to the right w/ the new v4 release (meaning higher % of observed over expected).
You now see pLoF variants in dominant early onset ID genes such as #SYNGAP1, #STXBP1 or #GRIN2B. 0 in v2.
โAbsent from gnomADโ is not what it used to be w/ the new @gnomad_project v4 release.
We need to be more tolerable for occurrence of rare disease variants in gnomAD (due to @uk_biobank I guess). Overall frequencies should be fine though just total absence should not be expected.
๐ Liz Marfia-Ash, President and Founder of the @GRIN2Bsyndrome fosters positivity and support to families with #GRIN2B. Learn more about her leadership, advocacy work and community-building efforts! ๐งฌ ๐ฆ ๐ค https://t.co/kPkk7omajz
#PatientAdvocacy #RareDisease

On Maisie's 2nd day of life our nurse said it wasnโt normal for her to not be eating so she took her to the NICU to try to get her to eat. Our nurse came back an hour later saying she would be admitting her for several reasons. #grin2b

A couple of hours later Mom noticed that Maisie was having seizures, she showed Dad and he agreed. We told every nurse, both pediatric doctors and our ob. Everyone chalked it up as acid reflux, even though our baby wasnโt eating. #grin2b

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