Joe Liu
@joe_liu_
Cardiovascular genetic counselor. mostly retweets, opinions my own.
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20 year study - nearly 700 #athletes with #genetic #heart #diseases, mostly #LQTS but lots of #HCM & #CPVT. Over 2000 athlete-years of observation. ZERO deaths. 1% non-lethal event rate per year. Most without an ICD. Total Game Changer!
Cool new study from @Regeneron Identification loss-of-function variants in GPR75 gene that protect against obesity Het LoF carriers about 12lb lighter. Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity science.sciencemag.org/content/373/65…
ACMG updates recommendations for #secondaryfindings reporting and unveils highly anticipated recommended minimum gene list (SF v3.0) in two important new policy statements just published in @GIMJournal. acmg.net/RELEASE_Second… #exomesequencing #genomesequencing #NGS
A new entity of RyR2 Channelopathy - Cardiac ryanodine receptor calcium release deficiency syndrome stm.sciencemag.org/content/13/579…
Among 2 cohorts of patients with cerebral palsy who underwent exome sequencing, the prevalence of pathogenic and likely pathogenic variants was 32.7% in mostly pediatric patients and 10.5% in mostly adult patients. Via @JAMA_current jamanetwork.com/journals/jama/…
Listening to @rdbagnall seminar at @CentenaryInst speaking about the impact of the deep intronic variants he described in MYBPC3 - one of which now accounts for ~1% of all HCM. Awesome stuff 👏🤩 #cardiogen #fangirl #thatbagnallguy
Vaccine pros-and-cons! Benefit of Pfizer/BioNtech vaccine: you are 95% less likely to get COVID-19, which can kill you. Risk: mild injection site reactions (84%), fatigue (63%), headache (55%), muscle pain (38.3%), chills (32%), joint pain (24%), fever (14%). Seems fair!
Year in CRISPR gene editing: 1. Doudna-Charpentier Nobel 2. Cure for sickle/thal! Bravo @danielevanbauer Stu Orkin @SangamoTx @CRISPRTX nejm.org/doi/full/10.10…
Happy to report our initial analysis of the recent release of exome sequencing data on 200K participants in @uk_biobank. Terrific work by Sean Jurgens, Seung Hoan Choi, @valerie_morrill and led by @steven_lubitz from @MGHHeartHealth & @broadinstitute. biorxiv.org/content/10.110…
Just Published: 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy ow.ly/Y8Y350Ccude #AHAJournals @AHAScience
Hospitalizations: On Oct. 13 we had 1,000 hospitalizations. On Nov. 5: 2,000 Nov. 12: 3,000 Today: We're approaching 4,000 hospitalizations.
Brian Ference showing that Lpa > 150 mg/dl conveys same risk as heterozygous FH, making the case to measure it in primary prevention. @TheFHFoundation @Lpa_Doc #AHA20 @dramitkhera @CBallantyneMD
The jump of 20,000 more cases in a day was accompanied by the most deaths we have seen in months (1,301) and over 68,500 hospitalizations @COVID19Tracking Great to see testing increased, but that explains nothing w/r to the spike in hospitalizations and deaths
Today is Genetic Counselor Awareness Day! Join me in celebrating the crucial role genetic counselors play in people’s healthcare! Learn more: bit.ly/2VRanJa #IAmAGeneticCounselor #GCChat
Happy genetic counselor awareness day from our first year class! Today we celebrate our students, alumni, supervisors, faculty, and all genetic counselors. #IAmAGeneticCounselor, #GCchat, #Ohiogenetics, #CWRU, #GCAwarenessDay
Uncovering a scandal about Gilead and Remdesivir Deep reporting by @sciencecohen and @kakape @ScienceMagazine The company knew the #SOLIDARITY trial data well before it its preprint. And so did the FDA before giving a full approval, w/o external review sciencemag.org/news/2020/10/v…
2020 APHRS/HRS Expert Consensus Statement on the Investigation of Decedents with Sudden Unexplained Death and Patients with Sudden Cardiac Arrest, and of Their Families - OPEN ACCESS! heartrhythmjournal.com/action/showPdf…
Why do >10% of older adults have clonal blood mutations? Simultaneous germline & somatic genome analysis in ~97K pinpoints causal mechanisms. This work w/ @pnatarajanmd, @skathire, @J__Stock now online @nature: nature.com/articles/s4158… Tag-team tweetorial w/@pnatarajanmd! 1/n
ASHG today shared a statement on genetic facts and knowledge and the values the genetics and genomics community holds. Read the full statement on our website. bit.ly/3cpZoi4
Anyone in #GCchat land know someone who graduated from their training as an international student from India? Looking to connect a prospective student.
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