Tina Pesaran

[Genetic Counselors @GeneticCouns]

We’re deeply concerned about the leaked #SCOTUS draft opinion that would overturn Roe and Casey and stand by our position statement on reproductive freedom, supporting the right of all individuals to make reproductive choices, including having access to safe abortion. #GeneChat

[Pesaran Lab @pesaranlab]

We are delighted to be part of this exciting team! NYU Langone Health awarded $8 million NIH grant to develop implantable device to study epileptic seizures https://t.co/x9W5iw79zl

[Tina Pesaran @tinapesaran]

The future looks bright for pancreatic cancer! #precedestudy

[Tina Pesaran @tinapesaran]

“PRECEDE is a unique, unparalleled opportunity to re-imagine how we detect, treat, and prevent pancreatic cancer in our lifetime." It's an honor to be part of this initiative! #PancreaticCancer #earlydetection #precedestudy #precedeconsortium #ambrygenetics #realm #invicro

[Tina Pesaran @tinapesaran]

@helenkimgc @dgmacarthur @katiehelbig @Invitae @gnomad_project @AmbryGenetics Are you referring to the genomic coordinates? @AmbryGenetics we use and report gnomAD.

[Tina Pesaran @tinapesaran]

@ColYou There is more risk of blood clots for women taking birth control. 🤷🏻‍♀️

[ClinGen @ClinGenResource]

Attending #ACMGMtg21 this week? Don't miss these ClinGen-related presentations and posters https://t.co/F0JJt5MqUk

[Center for the Multiplex Assessment of Phenotype @CEGS_CMAP]

Introducing the Atlas of Variant Effects Alliance. A roadmap to precision medicine at nucleotide resolution. Breakout rooms are now open! #varianteffect21 @FPRoth @rubin_af @BenLehner @clare__turnbull

[Center for the Multiplex Assessment of Phenotype @CEGS_CMAP]

Martin Kampmann on deep mutational scanning to capture disease-relevant protein conformations in neurodegenerative diseases #varianteffect21 @MartinUCSF

[Genetic Counselors @GeneticCouns]

We're excited to announce the #AccesstoGCs Act, which would authorize @CMSGov to recognize CGCs as healthcare providers, has been reintroduced to US House of Reps as #HR2144! Help us improve #AccesstoGCs so patients can make informed decisions about their healthcare #GCChat

[Heather Hampel @HHampel1]

If your personal or family history includes the following, see a genetic counselor to consider testing bc you may need earlier & more frequent screening:
🧩 #colorectalcancer dx<50
🧩 3 cases total of CRC, endometrial, stomach or ovarian cancer
#ColorectalCancerAwarenessMonth

[Genetic Counselors @GeneticCouns]

Members, the newest NSGC Podcast Series episode is here! Listen in to hear from @Naomi_CGC and Ryan Kuehl as they speak with molecular pathologist Brian Shirts & GC @GenesintheD about family testing for cancer VUS reclassification: https://t.co/CgADr2W9ti #GCchat

[Bita Nehoray @BeetsWhoTweets]

Variant interpretation is challenging! #TP53 c.1000C>G;p.G334R has discordant calls (#VUS & #VLP) in #ClinVar. Paper below suggests that this variant leads to low penetrance #LFS Highlights the importance of LFS research! #LiFraumeniSyndromeAwarenessMonth

[Sohnee Ahmed @SohneeAhmed]

So...just found out that the ACMG has sent letters to all states with GC licensure asking sponsors to change bill lang, saying we can't order tests without a dr. Not without a geneticist. Just any doctor. #GCChat

[Mark Ruffalo @MarkRuffalo]

Imagine if this was our side. There would be rivers of our blood in the streets and not a single one of us would be armed. This has been allowed. #CoupAttempt

[Tina Pesaran @tinapesaran]

@JimGaffigan Happy new year!

[Tina Pesaran @tinapesaran]

@ColYou Now you are definitely going to get covid

[Tina Pesaran @tinapesaran]

@ColYou Add cognac and eggnog to your coffee and you will feel amazing 🤩

[Heidi Rehm @HeidiRehm]

At launch, GenCC DB contains 3728 gene-disease assertions on 2282 genes from 8 submitters @AmbryGenetics @ClinGenResource @PanelAppTeam @illumina @Invitae @MyrWomensHealth @PanelAppAus @theTGMI More submissions from these groups as well as @OmimOrg and LMM are coming soon (3/4)

[Circulation: Genomic and Precision Medicine @Circ_Gen]

⚡Now online from @neallakdawala @CarolynHoMD @BrighamWomens: Associations between female sex, sarcomere variants and clinical outcomes in hypertrophic cardiomyopathy https://t.co/lG3DUwURtR

@AHAScience #AHAjournals #CardioGen #GoRedForWomen

📽️ @JeanetteErdmann + @LWilsbacher