Kate Orland

Cardiac genetic counselor | she/her

[Lady Glaucomflecken (she/her) @LGlaucomflecken]

My biggest hope is as clinicians, you will incorporate the “Explain-Name-Validate” framework into your interactions with patients and their families and teach it to your colleagues and students.

https://t.co/y1VfqeRTMh

[A/Prof Jodie Ingles @jodieingles27]

Let me tell you a story about 2 patients we identified via a research study, both with a rare variant in the cardiac troponin T gene, TNNT2; NM_001001430.3: c.571-1G>A. Both had cardiac phenotypes and both had Oceanian ancestry /1

[A/Prof Jodie Ingles @jodieingles27]

High five to incoming PhD student @SophieHespe for this nice case series of our experiences with FLNC truncating variants. From secondary findings, to highly arrhythmic presentations - this gene tests our expertise in many ways! @bdebneygray 👏 https://t.co/iK3tPbICUJ

[Kate Orland @KateOrland]

@dilgGC @PrevGenetics I use the Wisconsin State lab of Hygiene DNA banking service! They do a nice job.

[Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh]

The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype - new review article, online now at JCTR, describing the genetic basis of LVNC and the diagnostic utility of genetic testing https://t.co/hw8NC2oAZr

[PHG Foundation @PHGFoundation]

Finally - balanced, clear and concise insights to help you understand polygenic scores, the complexities of implementation and potential solutions. Open to all
https://t.co/1HcXM6wmYc

[Kate Orland @KateOrland]

@jodieingles27 Fingers crossed!!!

[Muin J. Khoury @MuinJKhoury]

Although being rapidly incorporated into health care, there are currently no clinical guidelines available for the use of this technology. @TheACMG points to consider document via @GIMJournal https://t.co/udt7vFfklU

[Mark Lewis, MD, FASCO @marklewismd]

I lost a dear patient over the weekend, but not before they participated in a celebration of life where they heard firsthand just how much they mattered to their loved ones

If you truly care about someone, tell them while you can

This is not a rehearsal

#MondayMotivation

[Ryan Rodarmer, MS 🧬♥️ @3rsCardioGC]

The study found that LQT2 patients with non-missense variants of KCNH2 had better clinical outcomes than those with missense variants. These findings could impact treatment options by guiding genetic testing and personalized therapy for LQT2 patients. #cardiotwitter @SADSFoundation #cardiogen #SADS #lqts
https://t.co/9PXtAKfj8d

[Emanuele Monda @MondaEmanuele]

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

@Circ_Gen

https://t.co/ARjL2ieBuG

[Emanuele Monda @MondaEmanuele]

Approaches to Genetic Screening in Cardiomyopathies
Practical Guidance for Clinicians

@JACCJournals

https://t.co/rqF70ho1wA

[Edgardo Alania @Ed_Alania]

🫀 Clinical Features, Genetic Findings, and Risk Stratification in ARVC: Data From a🇧🇷Cohort @CircAHA #CardioEd #Cardiology #Cardiogen #CardioTwitter

[Edgardo Alania @Ed_Alania]

🧬Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians @JACCJournals #CardioEd #cardiogen #CardioTwitter

[Amy R. Kontorovich, MD, PhD @GeneticHeartDoc]

Approaches to Genetic Screening in Cardiomyopathies: Practical Guidanc... https://t.co/H8R5w3Ecog

[Michelle Bowman (she/her) 🌈🧬🌏 @shelietweets]

Hey #GeneChat I have some thoughts about #IAmAGeneticCounselor, with some personal sharing to do by way of background.

Last year I hit a low point, but thanks to the support of my GP, a psychologist, an anti-anxiety pill, and 6 weeks off work, I'm starting 2023 off much better.

[Prof Lennart Nacke, PhD @acagamic]

I have written 300+ peer-reviewed scientific papers in the last 15 years with more than 27,000 citations.

Here is how I use sentence templates to write abstracts at lightning speed. ↓

@acm_chi @academicvoices @PhDVoice @PhD_Genie #AcademicTwitter #AcademicChatter #phdlife

[A/Prof Jodie Ingles @jodieingles27]

FINALLY able to share with you our latest! You know those papers that make you lose the will to live but also feel so damned proud? 🥲 Well this is mine, and i’m so excited to finally share it. Let me tell you about desmoplakin! @circ_gen #circgen https://t.co/BJEvdHw32I /1

[Pradeep Natarajan @pnatarajanmd]

In a retrospective analysis of pts w familial hypercholesterolemia, maternal vs paternal inheritance yielded ↑ burden of subclinical athero.
Supports hypothesis that in utero exposure to maternal ↑chol may have long-term consequences https://t.co/0j7X3Wbs9C @atvbahajournals