Cancer Genetics Nerd 🧬 , Cat Mom 🐱, disability advocate, she/her
Joined June 2020
- Tweets578
- Following402
- Followers252
- Likes2.4K
Genetics Nerd, CGC retweeted
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
Genetics Nerd, CGC retweeted
#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/10.1200… @JCOPO_ASCO @ASCO @Invitae
#universal #germlinetesting #access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention #LCSM #LCAM #lungcancerawarenessmonth
Genetics Nerd, CGC retweeted
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.
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
Genetics Nerd, CGC retweeted
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
Genetics Nerd, CGC retweeted
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 – at Paradise, NV
Genetics Nerd, CGC retweeted
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 – at Kenner, LA
One more reason why diversity in research is so imperative!
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.
Genetics Nerd, CGC retweeted
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/jgc4.1743 [⅙]
Genetics Nerd, CGC retweeted
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
Genetics Nerd, CGC retweeted
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 – at North Potomac, MD
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!)
Genetics Nerd, CGC retweeted
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 🧵
Genetics Nerd, CGC retweeted
📢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
Genetics Nerd, CGC retweeted
🙏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
Genetics Nerd, CGC retweeted
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
Genetics Nerd, CGC retweeted
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-…
Genetics Nerd, CGC retweeted
Meet our #webinar Speaker, @JG_in_Genetics
Josephine is an @NHSuk #GeneticCounsellor who, with @UKCGG, has developed the first UK recommendations for trans and gender-diverse patients with inherited cancer risks. #GeneChat
Register 4 free: bit.ly/NBLGCMTSJG
ALT PhenoTips Speaker Series Presents: Navigating Barriers in LGBTQ+ Genetic Care with NHS Genetic Counsellor Josephine Giblin, project lead for trans & gender diverse patients with inherited cancer predisposition for the UK Cancer Genetics Group. June 19th 2023 11am - 12:15pm EDT
Genetics Nerd, CGC retweeted
Pancreatic cancer is one of the deadliest cancers in the world. A new AI tool developed by researchers at Harvard Medical School could help identify those at risk and expedite diagnosis. #StartsInAcademicMedicine hvrd.me/NmGK50OipVO
Genetics Nerd, CGC retweeted
Congratulations to our PhD student @CrellinErin for her hot-off-the-press scoping review! Find out what matters to parents when their child receives genetic testing here: nature.com/articles/s41431-0…
Genetics Nerd, CGC retweeted
A collaboration between a computational lab and a translational genomics lab at Harvard Medical School is propelling research on a novel therapy for frontotemporal dementia #StartsInAcademicMedicine hvrd.me/3fC050Nhgnr