Catherine Spinks

Our latest on 🫀 health, 🧬, & 🤰 now out in @JACCJournals #JACC ⬆️ 1st-trimester CV health strongly associates w/ ⬇️ risk of hypertensive disorders of 🤰 (HDP) overall & across levels of HDP 🧬 risk ➡️ opp to prevent 🤰 complications & long-term CVD jacc.org/doi/10.1016/j.…

Dr. @jodieingles27, et al report 29 genes with definitive, strong, or moderate evidence of causation for #HCM or isolated LV hypertrophy, including sarcomere, sarcomere-associated, and syndromic conditions 👉 jacc.org/doi/10.1016/j.… #JACC #cvHCM #CVD #ClinGen #cvGenetics

New paper in @Circ_Gen: Traditional models assume genetic risk is constant, but @pnatarajanmd & team including @tigerstatdoc show CAD risk is dynamic. Genomic & clinical factors interact differently across life stages. @cgm_mgh @mghcvrc @mghcvfellows loom.ly/D6zv7IM

Delighted to share our study by @tigerstatdoc with @aklfahed on adding in a CAD polygenic risk score to clinical factors to boost CAD risk prediction, particularly for recovering premature CAD events ahajournals.org/doi/10.1161/CI… @Circ_Gen

We are excited to share our latest work, "Genetic Predisposition to Low-Density Lipoprotein Cholesterol and Incident Type 2 Diabetes," now published in JAMA Cardiology, led by the brilliant undergrad @akshayaravi22! 🎉 jamanetwork.com/journals/jamac…

Our study led by @kparuchuri @MGHHeartHealth using an EPIC-integrated clinician dashboard 💻 + smartphone app📱 onboarded upon HF hospitalization discharge 🏥 to improve HF management out in @JCardFail. So proud of our versatile team @MGH_RI continually forging into new areas

About 1 in 500 people in the U.S. are living with HCM. It’s the most common inherited heart disease & many people are unaware. AHA has launched an initiative to improve systems of care. bit.ly/41pmwbM #hcm #aha100 #cardiotwitter

The GLGC is a global collaboration of 100s of scientists interested in lipid genetics. Check out our recent review, where we highlight 🔑 contributions from the GLGC across the last 15 years. #GWAS #Genetics #Lipids #PRS 👇

Check out this International Consensus statement on platelet function and genetic testing in #PCI published in this issue of #JACCINT bit.ly/4g6DQXh #P2Y12i #PrecisionMedicine #cvGenetics

🧬 This Genetic Counsellor Awareness Day, we celebrate and acknowledge the dedication and compassion of genetic counsellors across Australasia. Thank you for your invaluable support! #ThankYouGCs #GCAwarenessDay #ANZGeneticCounsellors

Huge congratulations to @JaneMTiller on taking out the @ResAustralia @AbbVie_AU Advocacy Award, for her work tackling genetic discrimination in the life insurance industry! Here she is with team mates @PaulLacaze and Adam Brotchie @Monash_FMNHS @MonashUni @MonashResearch

Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing. buff.ly/3Cpx5RL

🚨JOB ALERT🚨 I'm looking for an #ImplementationScience research fellow to join my team @Sydney_Uni. You'll work on various projects and partner with the @SHPartners Implementation Science Academy seek.com.au/job/80114744

Gestational 🤰 diabetes is associated w/ long-term 🫀 disease risk, but is GDM *causal* for CVD? A new analysis using 🧬 suggests the answer is no - rather, GDM & CVD likely share upstream risk pathways. Our editoral led by @DrMArdissino in @ehj_ed #EHJ: academic.oup.com/eurheartj/adva…

Deep appreciation to the team involved in this study: @ProfSNicholls @pnatarajanmd @hsbhatia @AniruddhPatelMD @amitvkhera @johannesneuman @Lpa_Doc @PZoungas @JohnMcNeil6 especially @PaulLacaze who designed this wonderful project! Thank you all!

Missing the fall flavours and festivities of beautiful Cambridge & Boston, MA. Tried my hand at some holiday baking 🎃😋

Thank you @NatRevCardiol for sharing our vision for the future of #AHAFIT #ACCFIT training in #CardioGenomics recognizing the growing need for a #Cardiovascular #Genomics subspecialty  #PrecisionMedicine @NLAWIL @WomenAs1 @CardioNerds @CardioSmart @KUCVM nature.com/articles/s4156…

Why should I get a #genetic testing for my #HCM patient? Well, the question should be "why not?" Great talk by @tikuowens It is useful for family screening, #phenocopies identification, potentially choose appropriate treatment and even as a prognostic tool #HCMSummit8

We then observed that the penetrance of this variant is influenced by the T2D PRS. Carriers of the variant + highest tertile of the PRS had similar odds ratio (OR~18) as carriers of confirmed pathogenic variants while carriers with low PRS showed OR ~2.6

Hey #geneticstwitter #epitwitter #cardiotwitter - @ZhiYu_ACGT + I and looking to jointly hire a computational associate focused on genetic 🧬 epi! This is a super fun, collaborative group spanning @MGHHeartHealth @MGH_CTEU @broadinstitute More info here: zhiyu7.github.io/openings/