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Global Running Day 2026 🏃
#GRD26
Grateful to attend and present at the 20th Genomics of Rare Disease conference #GRD26 at Wellcome Sanger Institute. Great discussions on AI and multi-omics in rare disease, and glad to share our scKNIFE work.
Thanks to Dr. Debarka Sengupta and my co-authors for the support.
Starting now our last session of Genomics of Rare Disease #GRD26 on Therapeutics for #RareDiseases with Haiyan Zhou discussing "Nucleic Acid Therapies for RDs, Progress and Prospects in the UK" with examples for SMN and Hereditary neuropathy.
Last day of Genomics of Rare Disease #GRD26 conference starting now with the Lupski Lecture delivered this year by @WendyKChung talking about genomic newborn screening #gNBS through the GUARDIAN study to identify genetic disorders early at birth.
Fourth session at Genomics of #RareDisease conference #GRD26 on What's New in Rare Disease?! (Part 1) starting now with @dgmacarthur presenting on Integrating AI tools into rare disease diagnosis and reanalysis.
Good morning and we're ready to start the 3rd scientific session of this year's Genomics of Rare Disease #GRD26 conference @eventsWCS with Factors affecting penetrance with the first speaker Henry Lee-Six @sangerinstitute speaking on Somatic mutations of NF1 in normal tissues.
Second session of #GRD26 @eventsWCS starting now with invited speaker @hcmefford talking about "Multi-omics for gene discovery and precision medicine in pediatric epilepsies" through epigenomic and transcriptomic analyses of exome/genome negative epilepsy patients.
First session on NIPT, Prenatal, Perinatal research and diagnosis of #RareDiseases starting with Mike Talkowski talking about the Future of Prenatal Diagnostics #GRD26 @eventsWCS
We're ready to kick off this year's Genomics of Rare Disease 20th Conference #GRD26 @eventsWCS with an amazing scientific program, celebrating 20 years of #RareDiseases research, discoveries, and advancements from genomic disorders to large scale and latest generation sequencing!
It was wonderful to be part of this year's Genomics of Rare Disease #GRD25 Conference @eventsWCS ! Thank you to all speakers, in-person & virtual attendees, and fellow Scientific Committee Org members @LindstrandAnna, Stephen Montgomery & Malte Spielmann! See you for #GRD26! 🧬
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