Anna Lindstrand

[Wellcome Connecting Science Learning and Training @eventsWCS]

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: https://t.co/xiFtxyX9CY

[Claudia M Carvalho @CMBCarvalho]

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

[Fritz Sedlazeck @sedlazeck]

Our special issue is lout on long-read sequencing @PacBio / @nanopore ! Part 1 ;) https://t.co/biJQgNdjjq
Super excited about all the new work and special thanks to all the authors! Also want to thank Hillary @genomeresearch @ahoischen @anaconesa

[Anna Lindstrand @LindstrandAnna]

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

[Adam Ameur @_adameur]

In Sweden, we've been running a nationwide pilot project using @PacBio WGS for rare disease. Check out our results in this new paper! https://t.co/QhIGG2AeCR

[Tika Tkemaladze @TikaTkemaladze]

#undiagnosedhackathon2024 Day 2 video
Together we can make a difference!
@WilhelmFound
https://t.co/JvEvOtz9kP

[Shahida Moosa #StopTheGenocide @shahida_moosa]

#Undiagnosed hackathon at @radboudumc
Welcome remarks from @ahoischen and we are all looking forward to solving some undiagnosed and providing many families with answers!

[Alexander Hoischen @ahoischen]

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

[Stefan Barakat @StefanBarakat]

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

[Claudia M Carvalho @CMBCarvalho]

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

[Claudia M Carvalho @CMBCarvalho]

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

[Anna Lindstrand @LindstrandAnna]

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

[Shahida Moosa #StopTheGenocide @shahida_moosa]

#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!

[Claudia M Carvalho @CMBCarvalho]

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

[Shahida Moosa #StopTheGenocide @shahida_moosa]

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

[Anna Lindstrand @LindstrandAnna]

Great talk by Kristine Bilgrav Saether at #GRD24

[Claudia M Carvalho @CMBCarvalho]

Relevance of using T2T-CHM13 to find hidden pathogenic inversions at #GRD24 Fun collaboration with @LindstrandAnna team at @karolinskainst

[Anna Lindstrand @LindstrandAnna]

Kicked off my day with a beautiful morning run in Cambridgeshire alongside one of my top three PhD students! 🏃‍♂️🍂 Feeling energized and inspired. #GRD24

[Shahida Moosa #StopTheGenocide @shahida_moosa]

#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

[Tika Tkemaladze @TikaTkemaladze]

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

[Vicente Yépez @vaym88]

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!