Annabelle Arlt

rare disease gene discovery • neurodevelopmental disorders • gene therapy approaches 🧬🧠🐭 & IEI with syndromic features

[Peter Krawitz @KrawitzPeter]

This is #ReNUsyndrome. Let us know which syndrome you are interested in!

[AGD e.V. @AGD_eV]

Save the date for #AGD2025: 10/11 of October and register today! https://t.co/eQ91nFvBGh

[GestaltMatcher (.eth) @GestaltMatcher]

How does GestaltMatcher Database make RARE data FAIR? 🔍📊 By making it ✨ Findable, Accessible, Interoperable and Reusable ✨!
#FAIRdata #RareDisease #DataEthics #OpenScience

[GestaltMatcher (.eth) @GestaltMatcher]

We're excited to see @GestaltMatcher featured in the April newsletter of ReNU Syndrome United! A big thank you to the ReNu community for including us and for connecting families, researchers, and clinicians 🧡
🔗 Newsletter: https://t.co/xl1eAQ2Vhg

[GestaltMatcher (.eth) @GestaltMatcher]

The team enjoying the view at #GfH 2025 🏔️☀️ Grateful for the inspiring conversations, fresh mountain air, and the wonderful genetics community!

[GestaltMatcher (.eth) @GestaltMatcher]

Spotted at #GfH 2025! 🔎 Our team is at booth 29 (LIFE & BRAIN), ready to talk about all things GestaltMatcher. If you're at the conference, come say hi! 👋

[GestaltMatcher (.eth) @GestaltMatcher]

We're heading to the 2025 #GfH Annual Conference! Join us at🔸BOOTH 29🔸to find out how GestaltMatcher can support rare disease diagnosis. See you in Innsbruck! 👋

👉 Don’t miss the last chance to pick up a copy of our TRANSLATE-NAMSE paper in Nature Genetics at the booth!

[GestaltMatcher (.eth) @GestaltMatcher]

Just one big jump from the beach to #ACMGMtg25! 😉 It’s been amazing to enjoy this perfect blend of wonderful conversations, warmth, and waves. Thank you to everyone we’ve had the chance to talk to and @TheACMG for this incredible experience! We’re at booth 639, come say hi! 👋

[European Society of Human Genetics (ESHG) @eshgsociety]

Deadline extended❗Submit your dysmorphology case for #ESHG2025 until 18/3!Cases of distinctive/rare dysmorphic patterns, from low/middle income countries, with prior #GestaltMatcher analysis or of significant academic/educational value will be prioritized.https://t.co/nQNeLHvnuP

[GestaltMatcher (.eth) @GestaltMatcher]

Exciting news! 🎉 GestaltMatcher was featured on “Visite” (NDR)! 📺 Thank you for highlighting how AI can support the diagnosis of #RareDiseases and help patients find answers faster. 🧡

🔗 https://t.co/5Pfma6y1xY

[GestaltMatcher (.eth) @GestaltMatcher]

🦓 Today is Rare Disease Day! 🦓

We’re showing our stripes on the "Zebrastreifen" to stand with the 300 million people worldwide living with a rare disease. The zebra is a reminder that sometimes, it IS the rare diagnosis.

#ShowYourStripes #RareDiseaseDay #LightUpForRare

[Uniklinik Bonn @UniklinikBonn]

Das Start-up-Projekt „Bone2Gene“ erhält eine Million Euro: Das Projekt von Forschenden der Universität Bonn und des UKB erhält eine Förderung des Programms GO-Bio initial vom Bundesministerium für Bildung und Forschung. #ukbonn
https://t.co/pEF5beascV

[Peter Krawitz @KrawitzPeter]

First ClinVar charts for 2025 of the Deps. of Med Genet at German university hospitals. A lot has happened! What's going on in Regensburg - new runner-up?! Heidelberg also seems to have finally been unleashed. Hannover is attacking Berlin and Bonn is venturing into the top half!

[Peter Krawitz @KrawitzPeter]

Yes, we can! Aron Kirchhoff conditioned a generative adversarial network (GAN) on the 20 most frequent disorders that are represented in the #GestaltMatcher database (GMDB). A picture is worth more than a thousand words. Thus, contact us, if you need an image for your gene!

[GestaltMatcher (.eth) @GestaltMatcher]

Many thanks to @GeneticsSociety for hosting this great conference!
See you next time!
#gestaltmatcher #ai #diagnostic

[GestaltMatcher (.eth) @GestaltMatcher]

Find us at @GeneticsSociety!
Already excited to meet you here in #Denver
#humangenetics #ASHG2024 #GMDB

[AGD e.V. @AGD_eV]

Milestones at the 2024 AGD Annual Meeting: First joint event with the Next Generation Sequencing Competence Network and sold out! We're also celebrating 40 years of AGD. Two exciting days ahead! 🎉 #AGD2024

[AGD e.V. @AGD_eV]

The keynote by Andreas Till (BfArM) is currently taking place at the Joint Annual Meeting of the Association for Gene Diagnostics (AGD) and the NGS-CN! 🧬

Afterwards, we look forward to the second edition of the Alleles & Allies board game night! 🎲🃏

#AGD2024

[Christel Depienne @ChristelDepienn]

Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now online in MedRxiv. 1/12 🧵https://t.co/uCjD4WSWUD

[Peter Krawitz @KrawitzPeter]

MVGenomSeq is still operating in stealth mode with respect to data sharing. The best indicator for "heilen durch teilen" are still the #ClinVar submissions. Düsseldorf and Hannover climbed up a few ranks. Congrats!!