Let’s count our blessings

Sharing our preprint - Multidisciplinary approach w/ biobank/EHR data, functional testing, genetic testing lab collaborations to reclassify 20 VUS in Alport syndrome, pkd. @amoralescgc.bsky.social @jeffminerphd.bsky.social www.medrxiv.org/content/10.1...

🫀🧬 Excited to join my friend Kate Wilson on the All Access DNA podcast! We talked about how to bust barriers and leverage facilitators to make cardiogenetic testing more accessible and useful in care. 🎧 Listen here: allaccessdna.podbean.com/e/heartdisea...

Are you interested in the genetics of Spontaneous Coronary Artery Dissection (SCAD)? Please watch our SCAD Alliance webinar where Esther Kim and I discuss clinical genetic testing, research genetics, and the gVASC study youtu.be/UyoiYE0nysQ...

🫀🧬 Huge thanks to everyone joining the Delphi panel for my PhD study! Round 1 of 3 takes ~20 mins, later rounds likely shorter. A few spots left for cardio GCs + MD cardiologists (incl. fellows). Join here: forms.office.com/pages/respon...

🫀🧬 Phase I captured insights from 27 experts on family/medical history in genetic testing. Phase II is a Delphi survey to build consensus, and your input matters! All experience levels welcome. Join here: forms.office.com/pages/respon...

🫀🧬 Calling cardiologists & CVGCs! Phase I of my PhD interviewed 27 experts on medical & family history guiding genetic testing & best practices. Phase II: Delphi survey to build consensus. All experience levels welcome! Complete the intake form if interested: forms.office.com/r/UwMzwUFUGL

I wandered down the back alley and found flowers blooming as if they were keeping a secret from the rest of the world 🌿🌸

What drives patients with ATTR-CM and families to pursue genetic testing? 🧬 ✨ Provider trust & duty to family were top motivators 🧠 Patients wanted more info on risks, esp. insurance 📉 Testing was easy, but emotionally taxing 🤝Clear need for better consent, counseling & support. 🔗 bit.ly/4lWnlAt

My academic job offer was rescinded. I’ll keep going—but U.S. researchers are running out of road www.science.org/content/arti...

This flawed preprint claims that COVID-19 mRNA vaccination causes transcriptomic dysregulation and cancer. But all it does is showing that sick people differ in gene expression from healthy ones. Duh. My critical review at Science Integrity Digest here: scienceintegritydigest.com/2025/07/25/p...

🫀🧬 Pre-proof, hot off the press! My 1st PhD training pub is a systematic review on cardiogenetic implementation. We ID’d major gaps: little use of impsci frameworks, no payer perspective. 7 suggestions here 👉 www.sciencedirect.com/science/arti... @coauthors 🙏

Yet another rainy day, but I’m reframing. The plants are lush, humming, ready to burst…like actors backstage, soaking it in before the lights go on. The sun will rise and they’ll be ready for showtime. #GraySky

What is it about matrix coding that gives me such joy? Maybe Im just a qual nerd 🤓

📢 Paper out! Focal Cortical Dysplasia-linked epilepsy is more complex than expected - somatic mTOR-activating mutations affect multiple cell lineages, yet only a fraction become cytomegalic. Dysmorphic neurons show mitochondrial dysfunction. #Epilepsy #BrainMosaicism #Neurodevelopment

🫀🧬 For my PhD, I interviewed MD and GC experts in genetic cardiomyopathies and arrhythmias. We discussed how pt history influences decision to test, management changes based on results, and barriers/facilitators to testing. Phase 2 starts soon; grateful to all who participated or spread the word!

Our paper now published! 🙌🏻🧬🫀 @alexbutters25.bsky.social @k-jt.bsky.social @njhenden.bsky.social @dgmacarthur.bsky.social @kathrynmcgurk.bsky.social @jamesware.bsky.social @sharday-penn.bsky.social @rdbagnall.bsky.social @garvaninstitute.bsky.social @escardio.bsky.social doi.org/10.1093/eurh...

It's finally here! The #DSP exercise data you've all been waiting on! TLDR: different appearance than in PKP2 #ACM, but intense exercise not good in DSP ACM either. #cardiogen www.heartrhythmjournal.com/article/S154...

We’re looking to expand our team! The ideal candidate (established hx of competitive funding and publication) will enjoy 80% protected research time along with dedicated research support staff. It’s okay if you had grant funding recently cancelled.. #nephsky jobs.geisinger.org/job/danville...

I love how the ACM genes are so complex that Dr. Julia Cadrin-Tourigny is calling TTN 'garden variety'. 🧬 #HRS2025 with @brittmurray.bsky.social

The mind is an important and sacred place. Keep it clean and clear.

Music science offers multiple examples of nature/nurture interplay. Here’s just one, from @laurawesseldijk.bsky.social. An enriched childhood environment is associated with higher music achievement in adulthood. But such effects are amplified in people who have a genetic predisposition. 8/9 [More 👇]

NBC News: A federal judge just issued a final judgement and permanent injunction against the Trump admin — ruling that the National Institutes of Health must continue funding research grants at their original, full amounts.  @msnbc.com

Good news! And watch out, what‘s going to happen is Trump and Musk are going to use more underhanded means to ignore the court order. Will it be bans on paperwork like the Federal Register? Fired grants funding staff? Verbal orders to screw up sign offs?

Reckon we still have a while before ChatGPT replaces genetic counselors

🫀🧬⚙️2 talks today—1 in person, 1 virtual across 2 states—on implementation science in cardiogenetics & my PhD journey in translational health sciences. Grateful to PA & MN GC Asscs for the invite! Loved the rich convos on moving knowledge into real world action.

‘…Mao sent his young party cadres to attack “anyone who could think — ruling elites such as Deng Xiaoping, college professors, engineers, writers and journalists, doctors, etc. He wanted to dumb down the entire population so that he could rule easily and forever”…’ www.nytimes.com/2025/04/03/o...

In a sample of 250 patients from Egypt 🇪🇬, arrhythmias were present in a significant percentage of survivors months after SARS-CoV-2 infection. Atrial fibrillation and sinus tachycardia were the most common arrhythmias reported (24%) #LongCovid

I received a heartbreaking email today: A paper in a special issue I’m editing is being retracted because one of its authors is afraid of losing their job and their legal status in the U.S. if they publish a scientific study on evolution. Yes, on evolution, nature's engine of diversity.

Today I lost an NIH grant training clinicians to do research about intimate partner violence with perinatal women. More women are murdered in the perinatal period than die of obstetric complications. I didn't just lose a grant. We lost an entire cohort of people building careers to prevent that.

From 2010 to 2016 (latest data I have ), NIH research contributed to EVERY drug approved by the FDA

So many excellent science was canceled this week. Devastating a generation of scientists and leaving our country bereft of studies that might help the most vulnerable among us.

Mike spotted this before the rest of us. 🫡 Publications from 2025 are shared more on Bluesky than on X/Twitter.

New paper alert! 🚨 Up to 39% of Canadians have unmet need for genetic counselling and that its associated with some sociodemographic characteristics. Much of this unmet need is for multifactorial conditions and wouldn’t be met through the current system. www.nature.com/articles/s41...

Hey #AcademicSky 🧪 and #GeneChat friends! Kennedy is my PhD student and this is the first paper published from her PhD work! It’s important stuff, please read and share!

What is “heritability”? It’s an estimate of how much of the trait variability observed in your sample may be accounted for by variability in genetic factors; a description of variance in the cohort under this array of conditions. Different cohorts/environments can yield different heritabilities. 2/5

Everything may change, but it’s not done yet. Scientists can still bend the arc of history. But “keeping our heads down” isn’t going to work. It would be good if universities spoke out now. That means you, college presidents. Don’t be Columbia. Come out swinging.

Good morning. I need to mix it up a bit today. I cannot forget that March celebrates women and Spring begins soon..two of my favorite things, female friendships and flowers.

I often think of advice the neurobiologist Eric Kandel gave me some years ago: "Take care of your science & your science will take care of you." It was meant to remind researchers to keep a focus on why we do what we do. But there's a deeper message here for society as a whole, especially today. 🧪

…more on how the bsky algorithm works 🦋

Reposting this because posts are still being “liked”. Pls “REPOST” if you like to share with others. #CardioSky #MedSky #ACC25 @anastasiasmihaili.bsky.social @psatishmd.bsky.social @load-dependent.bsky.social @cardiacpa1.medsky.social

Heart disease is the leading cause of death in women worldwide. More research is needed to improve our understanding of sex-specific differences in the development, progression and treatment of heart conditions. #AccelerateAction #IWD2025 #HeartResearch

Rare Disease Day 2025: it’s hard to celebrate this with the NIH budget cuts, threats to Medicaid funding and lawsuit to end Section 504 Disability rights - all of which will severely impact individuals with rare diseases like my daughter Margot. We wear our stripes, we advocate and we fight!

honor of #RareDiseaseDay, GSF will be hosting a "Disability Community Connections" monthly Zoom meetup for GC with disabilities to connect and support one another. Join them on the fourth Tuesday of every month at 12pm PST. Register here: shorturl.at/FeFTV GC grad students welcome!

Pls retweet: ‼️ Skilled in bioinformatics? ⁉️ Join our cardiogenomics team @ AmsterdamUMC in lovely Amsterdam 🌷🌷 We have a vacancy for bioinformatician with prospect of permanent appointment. Info 👉🏻 werkenbij.amsterdamumc.org/en/vacatures... More about us and our approach here 👉🏻 tinyurl.com/5brcsazv

Today is #RareDiseaseDay ! To mark it, we have a curated special collection of papers that are available free to read in the Journal of Genetic Counseling! Please read share and enjoy 😊 🧪 onlinelibrary.wiley.com/doi/toc/10.1...

Think about it: 6,000 known rare diseases, 72% known to be genetic, 300 million known affected people.

Loving to see new Bluesky arrivals. Its a great place for science. Keep them coming!

📌 Key findings: ✅ Females have a higher risk of heart failure but a lower risk of ventricular arrhythmias (VA) & atrial fibrillation (AF) compared to males. ✅ MYBPC3 variants may protect females from heart failure but not males. ✅ ESC risk scores may underestimate VA risk in females.