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Findings published in a new AJHG article suggest that large-scale comprehensive sequencing of newborns will reveal numerous actionable unanticipated monogenic disease risks & subsequently precipitate substantial downstream medical care. ➡️ cell.com/ajhg/fulltext/…

Calling all PCPs: Come work with me and talented colleagues delivering primary care to Veterans at VA Boston HC. usajobs.gov/job/733092700

Given the availability of an increasing number of gene therapies, there is a need to better define the role of medical geneticists within this new treatment paradigm. Read how medical geneticists can contribute to effective gene therapy implementation: bit.ly/3mTr6Nl

PLEASE RT🧬: Ask your MP to support a ban on genetic discrimination! Right now, the gov is considering policy change on this issue. You can help bring about change. Use this simple tool to find your MP & send an email: discrimination.good.do/ban_genetic_di… Report here: doi.org/10.26180/23564…

Starting now!!! Icons meeting in London #icons23 streaming at iconseq.org

Panel 2: Up/Downstream Ecosystem. Moderator: Dr. Robert C. Green (ICoNS Co-Chair & Director Genomes2People) Panelists: Dr. Vanessa Almendro/Danaher Corp, Dr. Paul Kruszka/GeneDx, Dr. Jennifer Ibrahim/Sanofi, TBD. #ICoNS23

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad_v4 #ASHG23 (1/11)

🧬 We’re excited to announce that we have sequenced the whole genomes of 500,000 UK Biobank volunteers! 🧬 The dataset is the world’s largest of its kind and we’re proud to make it available to approved researchers around the world 🌍 ow.ly/qsyy50QcJ7w #500KGenomes

So thrilled to announce the 3rd Cycle of Chan Zuckerberg Initiative's #RareAsOne Network, open to #RareDisease patient organizations around the world working to accelerate research in #channelopathies #ciliopathies and inborn errors of #metabolism. Applications due Feb 22!

Join my conversation tomorrow (Tues) at 6 pm ET with Seema Kumar at Cure on LinkedInlive or IRL Midtown for a discussion of Genomes2People research and the radical results of our #BabySeq project. eventbrite.com/e/your-babys-g…

"There are over 700 genetic conditions that are treatable today and that you can really only detect with genetic testing with actually looking at the DNA code itself. Over 10% of these apparently healthy babies had unanticipated and actionable genomic findings." - Robert C. Green

Dr. Nina Gold presented “Using clinical cases to illustrate preconception planning among Women with inherited metabolic disorders” as part of the plenary session titled “Body Image, contraception, fertility, and Beyond The Health of Women with genetic disorders” at #ACMGMtg24.

🚀🔬 Uncover the secrets of your health! UCSF's groundbreaking work in genetic testing is revolutionizing how we approach health care, from cradle to grave. 🌟💉 Discover how understanding our genome can transform lives and lead to better, personalized treatments. #Genomics

What about including the CDC Tier 1 conditions HBOC, Lynch syndrome, & Familial Hypercholesterolemia in newborn screening - all of which have a highly penetrant, actionable associated recessive condition (Fanconi Anemia, CMMRD, & homozygous or compound heterozygous FH) and they

NHLBI's 2-day virtual workshop “Return of Individual Research Results to Participants in Observational Cohort Studies” is being held June 26-27.   Focuses on incidental genomic results including PRS. Link for the agenda & registration: bit.ly/3Vvr1OJ

Now in press: acceptance of recommendations from PGx clinical decision support for clopidogrel increased from 24% in 2015 to 63% in 2023. Wow. Great work by #pharmacogenomics at Sanford Health! tandfonline.com/doi/full/10.10…

Both philanthropy and business investment are key to building out preventive genomics. Read more in this first-person column for Lifestyles Magazine! genomes2people.org/wp-content/upl…

Say hello to #G2PNewYouHealthyYou🧬- our brand-new series showcasing the incredible power of genetics through inspiring patient stories. From secrets of genomes to transforming lives, we’re celebrating the real impact. Get ready for transformative science and a healthier you! 💙

Very cool new method: Simultaneous CRISPR screening and spatial transcriptomics reveal intracellular, intercellular, and functional transcriptional circuits cell.com/cell/fulltext/…