@DGlaucomflecken It’s trash for most things disability accomodations wise. Very disheartening.
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Genetics Nerd, CGC
580 posts
Genetics Nerd, CGC
@CatsAndGenetics
Cancer Genetics Nerd 🧬 , Cat Mom 🐱, disability advocate, she/her
Katılım Haziran 2020
405 Takip Edilen253 Takipçiler
Where are we at with insurance coverage for disability accommodations like wheelchairs and hearing aids? What’s the latest?
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Genetics Nerd, CGC retweetledi
Do #Fanconi Anemia heterozygotes have an increased #cancer risk? It looks like the long awaited answer is likely to be no. #genomefirst #DiscovEHR #populationgenetics bit.ly/3SauIXb
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Genetics Nerd, CGC retweetledi
#Germline #genetictesting (GGT) in >7,000 consecutive #patients w/ #lungcancer
>14% had PGVs, 63% in DDR genes e.g. #BRCA1 #BRCA2 #ATM #CHEK2, 95% clinically actionable
"The results from this study and previous reports suggest it is reasonable for clinicians to now consider GGT for all #patients diagnosed w/ #LungCancer"
ascopubs.org/doi/abs/10.120… @JCOPO_ASCO @ASCO @Invitae
#universal #germlinetesting #access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention #LCSM #LCAM #lungcancerawarenessmonth
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@mixing808 For cancer GCs, the @CGAIGC conference is phenomenal! They also have really nice educational resources for members.
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Genetics Nerd, CGC retweetledi
Our latest findings from the @DCMProject recently published: Despite a higher estimated risk for familial DCM, detection of clinically actionable variants remains markedly lower in DCM patients of African Ancestry.
JAMA@JAMA_current
Assumptions regarding dilated cardiomyopathy genetic architecture derived from European ancestry may not apply to African ancestry; a current lack of case data limits clinical genetics care for patients of African ancestry with dilated cardiomyopathy. ja.ma/3DEyRw0
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Genetics Nerd, CGC retweetledi
There are many Loc(k)i variations in UAB 1st years!
Please LIKE this tweet to vote for the UAB GCTP to win and retweet to help us get more likes @UABGCTP #Hallogene23 #genechat @ASGCGP
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Genetics Nerd, CGC retweetledi
Bryson Katona presenting data showing increased risk for gastric cancer in BRCA2 & ATM (and possibly BRCA1 & PALB2). Suggests H. pylori testing at dx (& treatment if +), endoscopic surveillance when undergoing EUS for pancreatic screening & if any upper GI symptoms. #CGAIGC23
Paradise, NV 🇺🇸 English
@womenofteal @HHampel1 I would also love this information for my li fraumeni patients.
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@HHampel1 Do you have a trial number or complete name. I know a family with two children with Li Fraumeni syndrome. Would love to share the info with them.
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Trial of metformin for cancer prevention in individuals with Li Fraumeni syndrome open in the UK & starting soon in the US, Canada, & Germany. Planned meta-analysis with 900 patients. #NSGC23
Chicago, IL 🇺🇸 English
Genetics Nerd, CGC retweetledi
Increasingly convinced that pharmacogenomics is important. 7% of people have a DPYD variant that causes an adverse reaction (including death) to 5-FU chemotherapy, yet it’s still not recommended in the US prior to 5-FU treatment. Great talk from Steve Offer at the US Oncology mtg
Kenner, LA 🇺🇸 English
One more reason why diversity in research is so imperative!
Elizabeth Jordan@eksjordan
Our latest findings from the @DCMProject recently published: Despite a higher estimated risk for familial DCM, detection of clinically actionable variants remains markedly lower in DCM patients of African Ancestry.
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Genetics Nerd, CGC retweetledi
Genetics Nerd, CGC retweetledi
We are excited to share our new publication from @emmakblanche et al “Genetic counsellors' research dissemination practices and attitudes”. You can read the full article here: doi.org/10.1002/jgc4.1… [⅙]
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Genetics Nerd, CGC retweetledi
Given the availability of an increasing number of gene therapies, there is a need to better define the role of medical geneticists within this new treatment paradigm.
Read how medical geneticists can contribute to effective gene therapy implementation: bit.ly/3mTr6Nl
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Genetics Nerd, CGC retweetledi
Congratulations to all & especially to Dr. Blanche Alter who built our Inherited Bone Marrow Failure Syndromes program @NCIEpiTraining which has been foundational for so much science. #FanconiAnemia #DyskeratosisCongenita #DiamondBlackfanAnemia #ShwachmanDiamondSyndrome
ASH@ASH_hematology
ASH is celebrating our 2023 Honorific Award 🏆 recipients for their outstanding accomplishments in the field of #hematology! Learn more about these impressive individuals: loom.ly/oQbUBlA #ASHAwards (Correction: the previous post included a misspelled name. Apologies!)
North Potomac, MD 🇺🇸 English
Genetics Nerd, CGC retweetledi
Are we ready for #genomic newborn screening?
👶🧬🌏 #RareDisease
As multiple large studies launch internationally, @Rich_Genomics and I review the evidence and gaps that now need to be addressed to inform policy
📣Out now in @NatureRevGenet
👉rdcu.be/dfF7u 🧵
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Genetics Nerd, CGC retweetledi
📢As #PrideMonth draws to a close we are grateful for all of our LGBTQI+ pts & the dedicated professionals who help care for them.
➡️@spaulliver from @UChicago provides an excellent tutorial on care & communication for LGBTQI+ pts that can be seen here👉🔗tinyurl.com/mv2vhknh
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@nkrberman @ao_genetics May have some info on Puerto Rico!
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#GeneChat anyone with connections to genetic providers in the Caribbean?
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Genetics Nerd, CGC retweetledi
🙏to all authors incl many #CGAIGC cttee members for their hard work in putting together this commentary
👉tinyurl.com/jcx3zcfy
➡️Recommendations for #cancersurveillance, risk-⏬strategies, & #geneticcounseling considerations for TGD pt w/ #LynchSyndrome
#HereditaryGICancer
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Genetics Nerd, CGC retweetledi
they provided well researched educational content that was digestible and easy to comprehend for FREE and helped an entire generation of students graduate! thats literally just the tip of the iceberg of their work
the green brothers are positive, intelligent, plain old good guys
Meesh Hell@waziot
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Genetics Nerd, CGC retweetledi
Dr. Vinod Balachandran provides the latest data on the mRNA pancreatic cancer vaccine, now headed to a phase II clinical trial. letswinpc.org/research/mrna-…
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