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!

Absolutely inspiring talk by Shahida Moosa #StopTheGenocide 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

#GRD24 Genomics of Rare Diseases "Towards Interventional Genetics" - wonderful talk by Tim Yu 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

#GRD24 I spoke about our #Undiagnosed Disease Program at #GRD24 today, introduced our CoRE Genomics for Health in Africa 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!

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

Celebrating Jim Lupski LupskiLab at #GRD24 in a wonderful talk from Evan Eichler teaching us the importance of polymorphic inversions to #genomicdisorders and #rarediseases GREGoR Consortium

Great talk by Kristine Bilgrav Saether at #GRD24

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

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

Having a lot of fun preparing our first Pacific Northwest Research Institute Rare Disease Hackathon in collaboration with Anna Lindstrand at Karolinska Institutet Jennifer Posey LupskiLab from GREGoR Consortium

The first day of our Rare Disease Hackthon at Pacific Northwest Research Institute was a lot of fun! Thanks Anna Lindstrand Jennifer Posey Haowei Du Rituparna Sinha Roy Maddie Gillentine, PhD and many others! Science in Seattle From the Labs at Baylor College of Medicine @greg

Inspiring to see the great Jim Lupski LupskiLab receiving the European Society of Human Genetics (ESHG) Mendel Award 2024 at #eshg2024 !

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 European Society of Human Genetics (ESHG)

#Undiagnosed hackathon at Radboudumc Welcome remarks from Alexander Hoischen and we are all looking forward to solving some undiagnosed and providing many families with answers!

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

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…

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

Our special issue is lout on long-read sequencing PacBio / Oxford 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 Genome Research Alexander Hoischen AnaConesa

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 Anna Lindstrand Baylor Genetics UDN Fritz Sedlazeck

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