Join us at #ACMG2025
We will be showcasing our upcoming rare disease products in our showcase, Advancing Rare Disease Diagnostics, on March 19th at 12:15 PM PST. Lunch will be provided. Register here: lnkd.in/gP847QVR
@meyers711.bsky.social
Genetic Counselor 𧬠| cardioπ«, rare π¦ | Head of Clinical Affairs at MyOme | #genechat I read a lot ~ have too many animals ~ one kiddo
Join us at #ACMG2025
We will be showcasing our upcoming rare disease products in our showcase, Advancing Rare Disease Diagnostics, on March 19th at 12:15 PM PST. Lunch will be provided. Register here: lnkd.in/gP847QVR
π¨ New paper alert! π¨
Using SHaRe registry data, we explored how clinical & genetic risk factors influence heart failure, arrhythmias, and mortality in men & women with HCM.
This study, from my PhD, emphasises the need for sex-specific approaches to improve care.
π Read more: bit.ly/41vlF9r
We're partnering with Novi Health to bring whole genome testing to employer health programs. Through this collaboration, employees and their families gain access to whole genome sequencing, integrated risk (with PRS) reports, and expert genetic counseling.
prn.to/4jzWF7T
Pretty big deal. @bookshop-org.bsky.social is selling ebooks now. You can now support indies while purchasing digital books.
bookshop.org/ebooks
Graphical Abstract titled "Comprehensive interpretation of genetic predisposition to MBC"
Genome sequencing in male breast cancer reveals new pathogenic variants beyond BRCA1/2, increasing diagnostic yield to 33% and highlighting polygenic and monogenic contributions to disease risk bit.ly/3CbJXLx
09.01.2025 21:38 β π 5 π 5 π¬ 0 π 0Another study shows cardiovascular genetic testing (CVGT) underutilization and provides new evidence of genetic counseling (GC) underutilization. Sneak peek at cardiomyopathy (CM) and arrhythmia (ARRH) data: 1% with CM and 0.7% with ARRH had GC; only 0.84% had GT. pubmed.ncbi.nlm.nih.gov/37766662/
16.12.2024 15:53 β π 4 π 2 π¬ 0 π 0π The HEARTS Act has passed the Senate & heads to President Biden's desk! HRS, a proud Smart Heart Sports Coalition member, led a grassroots effort urging legislators to act. Soon, schools nationwide will have AEDs, CPR training, & emergency plansβlifesaving tools for every kid β€οΈsmartheartsports.com
12.12.2024 14:12 β π 14 π 7 π¬ 1 π 1Big news! 𧬠Natera & MyOme launch iPRSβ’, a personalized tool to assess breast cancer risk. Backed by research, iPRS integrates >1M genetic markers & clinical inputs for accurate, cross-ancestry insights.
Learn more: ow.ly/mGsJ50UntLt
#BreastCancer #Genetics
Here are some cardio ones!
π¦ Follow #CardioSky community by using starter packs:
Cardio Journals & Societies
go.bsky.app/FfE1QRm
CardioSky I
go.bsky.app/562nfhZ
CardioSky II
go.bsky.app/R2XckyG
π¦ Add label "Cardiology" to your profile w/labeler
bsky.app/profile/meds...
Sharing the @americanheart.bsky.social scientific statement about asssessing & addressing CV health in individuals who are transgender and gender diverse. Transgender care is health care, and I support optimizing the lives & hearts of all persons. π³οΈβπ
www.ahajournals.org/doi/10.1161/...
black or female, test lp(a)
'One-third of participants demonstrated Lp(a) levels β₯125 nmol/L, the threshold for high ASCVD risk, which was higher among Black (1/2) and female (2/5) participants, suggesting a greater need for Lp(a) testing'
#cardiosky #cvprev
www.lipidjournal.com/article/S193...
Great collaborative work spearheaded by M. Ardissino showing that, among those sustaining early-onset myocardial infarction, a CAD polygenic risk score was the strongest among assessed predictors of recurrent events www.ahajournals.org/doi/10.1161/... @ahajournals.bsky.social
30.11.2024 14:23 β π 20 π 10 π¬ 0 π 0The GLGC is a global collaboration of 100s of scientists interested in lipid genetics. Check out our recent review, where we highlight π contributions from the GLGC across the last 15 years.
π
#CardioSky #Genetics #Lipids #GWAS
I would love to be added!
27.11.2024 13:54 β π 1 π 0 π¬ 0 π 0I couldn't spot a starter pack for rare disease / clinical genomics, so I started one: go.bsky.app/SUWZ9Hw
Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged.
#ClinicalInformatics #genomics #bioinformatics π₯οΈπ§¬
Among British Pakistani & British Bangladeshi individuals, partitioned T2D polygenic load for insulin deficiency & lipodystrophy was higher than white European individuals & predisposed to faster progression to T2D & complications www.nature.com/articles/s41... @natureportfolio.bsky.social
26.11.2024 14:04 β π 16 π 13 π¬ 0 π 0