CHASERR lncRNA Dad
@chaserrdad
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Co-President @curechd2. 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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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 what many major foundations allow and much lower than the 60%+ that some institutions charge the government today. This change will save more than $4B a year effective immediately.
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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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RT @maggiet_arriaga: What if one variant can cause splicing outliers transcriptome-wide? Our preprint shows how examining transcriptome-wid…
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Thank you @GREGoR_research for your hard work. And thank you for the shoutout. So much promise for the future.
🚨 Excited to announce the Marker paper for the GREGoR Consortium! Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬
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RT @HHMINEWS: HHMI Investigator Joshua Mendell (@Mendell_lab) at @UTSWMedCenter helped discover that tRNAs play a role in stabilizing or de…
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RT @Mendell_lab: I’m thrilled to share this story from @Mendell_lab and Jan Erzberger labs, led by postdoc extraordinaire Xiaoqiang Zhu! We…
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RT @JSheltzer: My lab’s new paper using chromosome engineering to correct a complex chromosomal rearrangement is now up on @biorxivpreprint…
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RT @GholsonLyon: glad to see this published: A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases.…
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RT @NEJM: A new editorial describes the science behind a study linking a severe neurodevelopmental disorder with deletions in a gene (𝘊𝘏𝘈𝘚𝘌…
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We are so thankful that this paper has finally been published. Thank you to all the amazing scientists that made this a reality. Hopefully this great work will inspire more genetic discoveries.
Excited to report our study in @NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause of a newly defined human neurodevelopmental disorder 🧠. 🧵1/10
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@NEJM Thank you bringing rare disease to the spotlight. This was a labor of love that took many years of work by a lot of great scientists to come to reality. Hopefully this will inspire more research into lncRNAs because surely there are more stories like this one to be discovered.
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RT @eperlste: Good news for the rare disease space. The Priority Review Voucher program will be extended through December 20 as part of t…
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RT @marinkazitnik: Excited to share TxGNN, a model that identifies potential therapies from existing medicines for thousands of diseases. T…
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RT @FranMartinezGr: Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy #RareDisease…
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@IvaZovkic My daughter was diagnosed thanks to a preprint - a gene discovery paper about a lncRNA. You can’t predict when your science might impact the world in ways you did not consider. If you have something important to share, it shouldn’t wait.
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@mcuban Why doesn’t @costplusdrugs get into the specialty side? Our daughter’s GENERIC Vigabatrin runs $18,000 a month.
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