Anna Lindstrand

Join leading experts working in #RareDisease research at our #GRD25 conference🧬 📅9-11 April 2025 💭Share insights in person Explore the latest #genomics advances accelerating improvements in clinical care for rare disorders. ⏰Register by 11 March: bit.ly/3YzreSC

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

Our special issue is lout on long-read sequencing @PacBio / @nanopore ! Part 1 ;) genome.cshlp.org/content/34/11.… Super excited about all the new work and special thanks to all the authors! Also want to thank Hillary @genomeresearch @ahoischen @anaconesa

Happy to be in Denver and excited to connect with old and new friends! #ASHG24

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/content/lo…

#undiagnosedhackathon2024 Day 2 video Together we can make a difference! @WilhelmFound youtu.be/5kLIDEB2eb4?si…

#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

Inspiring to see the great Jim Lupski @LupskiLab receiving the @eshgsociety Mendel Award 2024 at #eshg2024 !

The first day of our Rare Disease Hackthon at @PNRIGenetics was a lot of fun! Thanks @LindstrandAnna @poseypod @CluHaowei @RituparnaSinha9 @maddieag and many others! @science_seattle @BCMFromtheLabs @greg

Having a lot of fun preparing our first @PNRIGenetics Rare Disease Hackathon in collaboration with @LindstrandAnna at @karolinskainst @poseypod @LupskiLab from @GREGoR_research

It’s 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 🏆! #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!

Celebrating Jim Lupski @LupskiLab at #GRD24 in a wonderful talk from @EichlerEE teaching us the importance of polymorphic inversions to #genomicdisorders and #rarediseases @GREGoR_research

#GRD24 Really enjoyed the talk by @TikaTkemaladze about her work with understudied Azerbaijani families in Georgia, many new diagnoses and majority are treatable!!

Great talk by Kristine Bilgrav Saether at #GRD24

Kicked off my day with a beautiful morning run in Cambridgeshire alongside one of my top three PhD students! 🏃‍♂️🍂 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!