🚨 Excited to announce the Marker paper for the GREGoR Consortium! arxiv.org/abs/2412.14338
Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬
We are all walking mosaics of genetically distinct cells.
Every cell acquires around one mutation each division after fertilization, resulting in a vast amount of genetic diversity across all the cells in our bodies by the time we are born.
Thrilled to share I’m opening my lab @YaleGenetics in 2024! Excited to join the faculty of this amazing department. We’ll study human genetic variation in health & disease focusing on mitochondrial genomics
I’m #hiring, reach out if interested! #ASHG2023thelakelab.org/
🎆 Exciting research 🎆 @bcmhouston@bcmgenetics -- Dr. Ashok Balasubramanyam is researching why some diabetics don’t necessarily fit the box of type 1 and type 2 and what he’s discovered is there’s probably a wide range. 🧬 is key! click2houston.com/video/news…
This year we celebrate the 20th anniversary of completion of the #HumanGenomeProject. Dr Richard Gibbs, founding director of @bcmhouston's Human Genome Sequencing Center, discusses the advancements of technology and #genomics since this major milestone.
youtube.com/watch?v=JxzUGOPQ…
Full programme for Genomics of #RareDiseases 2023 is ready!📄 #GRD23
👀 View here: bit.ly/3ZYp9Oz
Explore the benefits of attending this conference in-person in our blog article ➡️bit.ly/3FD08QK
⏰ Register for a place by 28 March ➡️bit.ly/3iPuSFp
ALT Image displays:
The Wellcome Connecting Science logo
Head shot photo of David Liu
Text reads: Genomics of Rare Disease
Keynote speaker: David Liu, from The Broad Institute, Harvard University, USA
Speaking on Tuesday 25 April 2023
ALT Image displays the Wellcome Connecting Science logo and a head shot photo of Cynthia Morton.
Text reads: Genomics of Rare Disease 2023
Keynote speaker: Cynthia Morton, Brigham and Women's Hospital and Harvard Medical School, USA
Monday 24 April 2023 - Lupski Lecture
Submit your abstract for #GRD23. 📩
Showcase your insights on the #genomic mechanisms, new technologies, and omics approaches related to #RareDisease research.
Strategies for translating advances into healthcare are welcomed.📊
⏰Deadline: 28 Feb
🌐bit.ly/3iPuSFp
ALT Image display the Wellcome Connecting Science logo
Text reads:
Genomics of Rare Disease 2023 - Hybrid conference
Conference dates: 24-26 April 2023
Location: Hinxton Hall Conference Centre, Wellcome Genome Campus, UK or online
Abstract deadline: 28 February 2023
In-person registration deadline: 28 March 2023
Virtual registration deadline: 17 April 2023
Reflecting on my favorite part of the week: a visit to @StanfordMed to speak at their Inherited Cardiovascular Disease Seminar — got to chat with @MWheelerMD@TiaMoscarello and many others (1/3)
Joined a panel with these #WomenInSTEM to discuss 🧬testing in cancer risk assessment @CommonSpiritPE this morning! Thank you @sagar_ankita Hitashi Bansal & Jill Tapper 🙏