Chapel Hill, NC
Joined April 2015
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Berg Lab at UNC-CH retweeted
I’ve never felt so much respect for someone in a floral fanny pack
Great @newsobserver photo of one of the many nurses on the front lines of this pandemic, at @UNC_Health_Care
This is a really lovely thread, thanks @TanentzapfLab
@threadreaderapp unroll please
1. One of formative experience of grad school for me was when our lab moved across the hallway to a bigger space & I realised my research didn’t really matter in the grand scheme of science & that this actually made me love science even more. So here is a thread about that.
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WOW. Just wow. Is BCM Genetics the pinnacle of science nerd skit/video parody? Brings back memories. Way to go @PotockiMD and all others involved...
Finally uploaded! LabGuy Billie Eilish Parody #BillieEilish #BadGuy @billieeilish @amanda_braddock m.youtube.com/watch?feature=…
Berg Lab at UNC-CH retweeted
“Bayes theorem applies to everything clinicians do:” Les Biesecker writes in @GenomeMedicine about the simple but fundamental difference between genomic screening and genomic diagnostic testing. genomemedicine.biomedcentral…
Berg Lab at UNC-CH retweeted
“My medical training was always tied to genetics. I grew up with genetics, you could say.” bit.ly/32KUA0J
I thought the actual responses (aside from the yes/no) were quite nuanced. The answer is clearly "it depends"...
You can be the 1000th member of ClinGen! Volunteer now: clinicalgenome.org/start/
#CCG19
Use of genomic screening in newborns and children requires careful thought about what information to include. NC NEXUS used "age-based actionability" to help categorize conditions for parental decision-making. authors.elsevier.com/a/1Z5eG… @NICHD_NIH @UNCResearch
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Who knew people could mis-use genetic tests? 🙄
Any guesses as to what "genetic condition" this guy was diagnosing based on 23andMe in order to gain exemptions? MTHFR, anyone? thevaccinereaction.org/2017/… #psuedoscience #pseudomedicine
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Cautiously optimistic about therapeutic intervention in Huntington disease. Exciting to see reduction in mutant HTT in CSF after intrathecal antisense oligo, but looking forward to Phase 2/3 trials studying outcomes & prevention of manifestations.
Some hope for patients with Huntington's disease: Targeting Huntingtin expression. Via @NEJM. nejm.org/doi/full/10.1056/NE…
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The distinction is between what genes were deemed by the ACMG Secondary Findings working group to be important enough to look for when someone undergoes clinical genomic sequencing for diagnostic purposes, versus those that should be actively sought in the general population.
Perhaps @BergLabUNC has some input on this? He and I had a good convo about screening for these kinds of genes at #ACMG19.
Haven't read the book, but quotes from the review ("geneticist Robert Plomin ...presents DNA as a “fortune-teller” that is “100 percent reliable” and that can “predict your future from birth”) make me cringe. Hard to fathom anyone making claims that mutilate our science this way.
"No matter how good our understanding of the genetics of intelligence gets, we will never be able to predict intelligence of individuals with accuracy from genomic information." says @WiringTheBrain
Never accurate. Not even close.
blogs.scientificamerican.com…
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The problem with focusing intervention on the top decile of PRS is that it would ignore the majority of kids who will be overweight, obese, or severely obese, but who have a "normal" PRS (~82%, 79% and 68%, respectively)...
Is your suspicion population-level programs > impact than targeting high genetic-risk kids
based on
evidence (i.e., proven efficacy of population-level programs for obesity) or just a hypothesis?
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If you rearrange fig S3D, the top decile of PRS contains ~ 32% of the severely obese, 17% of the obese, and 9% of the overweight... the middle 8 deciles contain ~ 68%, 79%, and 82% of those populations, respectively. Does PRS really predict?
Can polygenic risk scores provide an obesity trajectory from birth to adulthood? Very interesting new findings from @amitvkhera and colleagues in @CellCellPress cell.com/cell/fulltext/S0092…
I am pretty sure there will be a twitter storm about these findings!
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What a poignant story and a visceral reminder of how important communication is! A must-read for medical and genetic counseling trainees. And perhaps just for anyone who cares for patients in the most vulnerable times of their lives...
A powerful story to read about what sounds like a horrible prenatal diagnostic odyssey that resolved in an unexpected way. The poor communication and lack of communication seems astounding. I wish I could say the GC rescued the day, but not from this pt's perspective.
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My problem with risk prediction is that it will always be right, whether you develop disease or not. They key to clinical utility is whether differential management based on PRS/risk factors will improve outcomes and cost. This is where more research is needed, not ROC curves.
So proud to have Sarah as part of the Berg lab, and looking forward to many more great things in the future! #ACMGMtg2019 @UNC_SOM
Sarah Brnich @UNC received #ACMGFoundation/David L Rimoin Inspiring Excellence Award @ #ACMGMtg19 “Dr. Rimoin was a giant in the field of medical genetics and a consummate physician-scientist. As an MD/PhD in-training I am inspired by his example” she said bit.ly/2WMpS4n
Nice accomplishment for a former lab member -- in recognition of work done as part of the @ClinGenResource consortium!
Congratulations to Bryce Seifert, PhD, a laboratory genetics and genomics fellow @DukeU School of Medicine, for receiving the 2019 Richard King Trainee Award from #ACMGFoundation for his two articles published in Genetics in Medicine #ACMGMtg19 bit.ly/2TPr3y0
