Join leading experts working in #RareDisease research at our #GRD25 conferenceš§¬
š 9-11 April 2025
šShare insights in person
Explore the latest #genomics advances accelerating improvements in clinical care for rare disorders.
ā°Register by 11 March: bit.ly/3YzreSC
ALT Genomics of Rare Disease (hybrid conference)
Dates: 9-11 April 2025
Location: Hinxton Hall Conference Centre, Wellcome Genome Campus, UK and online
In-person registration deadline: 11 March 2025
Virtual registration deadline: 1 April 2025
If you are interested in long-reads clinical use, see here how to improve detection of clinically relevant inversions using T2T-CHM13: doi:10.1101/gr.279346.124
In partnership with @LindstrandAnna@BaylorGenetics@UDNconnect@sedlazeck
In Sweden, we've been running a nationwide pilot project using @PacBio WGS for rare disease. Check out our results in this new paper! genome.cshlp.org/cgi/contentā¦
#Undiagnosed hackathon at @radboudumc
Welcome remarks from @ahoischen and we are all looking forward to solving some undiagnosed and providing many families with answers!
Mendel award time at #eshg2024.
To one of my all-time genomics heroes Jim Lupski!
Incredibly how his smart work - with the amazing team he built over decades at @bcmhouston has influenced our field. What an honor Jim and his family took the enormous effort to join @eshgsociety
Itās been a fantastic meeting filled with impressive talks and posters. Looking forward to seeing everyone next year. Ending on a high note, so proud of my PhD student Esmee for winning the Best Poster Award š! #GRD24
#GRD24
I spoke about our #Undiagnosed Disease Program at #GRD24 today, introduced our @CoRE_GHA and plans to expand the UDP into Africa
"Until every African with a #RareDisease & #Cancer is diagnosed!"
Love this meeting, attended virtually for several yrs, so lovely to be here!
#GRD24
Really enjoyed the talk by @TikaTkemaladze about her work with understudied Azerbaijani families in Georgia, many new diagnoses and majority are treatable!!
Kicked off my day with a beautiful morning run in Cambridgeshire alongside one of my top three PhD students! šāāļøš Feeling energized and inspired. #GRD24
#GRD24 Genomics of Rare Diseases
"Towards Interventional Genetics" - wonderful talk by @timyu on ASO-Rx for numerous RDs.
What an inspiration! We look forward to seeing more implementation and successes. Many challenges, but they have come so far in just 5 yrs!
#RareDiseases
Absolutely inspiring talk by @shahida_moosa overcoming obstacles and difficulties with the aim to diagnose the undiagnosed. All is possible with the right vision and determination, but more human resources are needed #raredisease#undiagnosed#GRD24
Excited to be at the Genome Campus in the UK where I'll be giving a talk about our work on RNA-seq-based rare disease diagnostics within Solve-RD #GRD24
Join me to discuss the DNA 1st & RNA 1st approaches to diagnose cases!