CHASERR lncRNA Dad
@chaserrdad
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Dad of first 🧒 in the 🌎 with a neurological disease caused by a lncRNA = Chd2 overexpression. Hunting for a cure. Paper in NEJM. ⬇️
Dallas, TX
Joined May 2021
Thank you @NEJM for bringing rare disease to the spotlight. Hopefully this will inspire more research into lncRNAs because surely there are more stories out there like CHASERR waiting to be discovered.
Deletions in a gene (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) that encodes a long noncoding RNA cause severe developmental delay and an increase in expression of a neighboring gene, 𝘊𝘏𝘋2. Read the Brief Report:
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RT @ShorterLab: AAV delivery of RNA editing machinery rescues SUDEP and seizure phenotype in a mouse model of Dravet Syndrome https://t.co/….
biorxiv.org
Dravet syndrome (DS) is a severe childhood genetic epilepsy, caused by de novo heterozygous mutations in the SCN1A gene, resulting in a loss of function of the voltage-gated sodium ion channel,...
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RT @Mayr_Christine: More than 2700 3′UTRs are highly conserved. These 3′UTRs are essential components in mRNA templates, as their deletion….
biorxiv.org
More than 2,700 human mRNA 3′UTRs have hundreds of highly conserved (HC) nucleotides, but their biological roles are unclear. Here, we show that mRNAs with HC 3′UTRs mostly encode proteins with long...
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RT @DrPaulOffit: My response to Secretary Kennedy's statements about me on Fox News today. It's time to set the record straight. https://t….
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RT @NicoleGaudelli: .@SecKennedy - thank you so much for your broad support for gene editing and gene therapies as well as recognizing the….
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RT @IgorUlitsky: Stop the doom scrolling! A new 🗞️ from my lab, describing one of our flagship projects of many years we are super excited….
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RT @davidrliu: I discuss the urgent crisis from the loss of federal support of science in the US and recent clinical gene editing breakthro….
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RT @StJudeResearch: Scientists developed a patient-derived organoid model for UBA5-associated encephalopathy, revealing stunted GABAergic i….
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Thank you Amanda Keener, @Nature & @SeegeneUSA for the great article about the powers of whole genome sequencing and our daughter's diagnostic journey. @UDNconnect @broadinstitute @VGaneshMDPhD @AnneOtation @CarvillLab @IgorUlitsky .
nature.com
Nature - Conventional tests that look only at a small subset of genetic code often miss variations hiding outside the protein-coding genome.
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RT @SinaiGenetics: New @NatureGenet study identifies RNU2-2 mutations as a cause of a severe neurodevelopmental disorder with #epilepsy. Th….
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RT @StefanBarakat: New international collaborative work incl. our discovery team describing mutations in the noncoding gene RNU2-2 as a cau….
nature.com
Nature Genetics - Recurrent de novo mutations at nucleotide positions 4 and 35 of RNU2-2 cause a neurodevelopmental disorder whose prominent features include intellectual disability, developmental...
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RT @AinaCastellanos: So proud to share our last story about a #methylated #lncRNA involved in #inflamation, this time in #brain. Many thank….
cell.com
This study reveals that the autoimmunity-associated lncRNA LOC339803, downregulated in the cortex of multiple sclerosis patients, helps maintain mitochondrial integrity by regulating HK2 levels in...
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RT @LabRubinstein: Excited to share our upgraded #CHD2 mouse model! 🐭🧠 It better mimics the disorder, revealing key symptoms like motor def….
biorxiv.org
Heterozygous loss of function mutations in the CHD2 gene, encoding for chromodomain helicase DNA-binding protein 2, are associated with severe childhood-onset epilepsy, global developmental delay,...
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RT @DrMikeBooth: 🚨 Preprint alert 🚨 We have developed an entirely new mechanism of action for ASO gene knockdown -> lysosomal trafficking 🧬….
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This needs to be retweeted 5,000 ^5,000 times. Ah ah ah!.
Five thousand!.
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Getting so close. Happening this week. It will probably break X. Ah ah ah!.
Four thousand nine hundred ninety! Ah ah ah!.
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On Rare Disease Day, we celebrate all those impacted with rare diseases like my Emma. We also celebrate those struggling to find a diagnosis. I dream of a day where I don’t have to watch my child suffer such immense pain and challenges. #PequenaPeroValiente.
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Another lncRNA causing an epileptic encephalopathy with LGS. Amazing work @HTChaoLab.
Child with rare #epilepticDisorder receives long-awaited #diagnosis. Dr. HT Chao @HTChaoLab explains. @bcmhouston @TCHResearchNews @BaylorGenetics @AJMGEditors @bcmneurology @bcmgenetics @bcm_neurosci @TexasChildrens #chromothripsis
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Strong opinions. In acctg, there's a rule called the “matching principle” - match revenue & expenses using GAAP estimates. Under @NIH rules, you can’t allocate expenses across multiple projects. Only direct count. Disconnected from reality. Bad accounting = distorted narrative.
Last year, $9B of the $35B that the National Institutes of Health (NIH) granted for research was used for administrative overhead, what is known as “indirect costs.” Today, NIH lowered the maximum indirect cost rate research institutions can charge the government to 15%, above
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RT @the_yaniv: Standing room only in @IgorUlitsky 's day on nucleic acid therapeutics. 🇮🇱's biotech and science is 💪💪💪 .
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