Scientist & entrepreneur working on genetics and health. Co-founder & CTO @nostosgenomics. Passionate about rare disease, piñata consultant in my spare time.
If you are at #ESHG2022 and have unsolved cases or cohorts you would like to reanalyse, stop by the @nostosgenomics booth (X4-780) or reach out to me to chat about what AION can do. We're looking for partners for scientific collaborations. :)
Are you at #ESHG2023 in Glasgow? Come visit us at booth #750 to learn more about how our software can improve your whole-genome interpretation, or visit the poster session of @burstingcell starting at 1PM today (P18) 🧬
Just one more day until #eshg2022! Come say hello at my poster on Sunday at 2pm (P18.045), drop by the Nostos Genomics booth (X4-780) throughout the conference or reach out so we can arrange a coffee. Looking forward! :)
Mi prima estaba preparando una caja con alimentos, medicamentos, etc para Ucrania. Su nieta de 15 años le preguntó: ¿cómo hacen las mujeres en la guerra cuando tienen la regla?
#GuerraEnUcrania 🧵
@PatrickBlader Here's another cool example from @der_bri: a missense mutation in Hoxd13 changes the profile of the target genes being expressed. https://t.co/2s3Op9Ho1G
We are excited to announce our partnership with @genomenon today! This will give our users access to virtually all relevant literature accelerating genetic disease diagnostics. Learn more at
https://t.co/bLHl4XK4Ni
#raredisease#genomics
.@nostosgenomics is growing again! We're looking for a Head of Genomics to help us provide answers for more than 300 million people around the world who live with a genetic disease. If this sounds like you, click here:
https://t.co/i4mK9pQUKO
We are looking for a Head of Genomics to lead our genomic data science workstream.
Remote work with a willingness to travel to Berlin occasionally is possible.
Check out the link below or our website to apply!
https://t.co/ZDi55g61L8
Today is #RareDiseaseDay!
🌍 300 million people live with a rare disease across the world. On average, it takes 5-7 years before a diagnosis is given.
We are proud to support the diagnoses of #RareDisease with our variant interpretation platform 🧬
I'll be taking part in today‘s livestream from the FUTURE FORUM by BMW Welt on “How AI and big data are shaping the healthcare of tomorrow”. Tune in and let‘s explore the future together. @1e9tech@bmwwelt#1E9#FutureForum#BMWWelt
Join here: https://t.co/jSRqjmvwGB
#KI könnte dabei helfen, Krankheiten besser zu diagnostizieren und zu behandeln. Aber werden alle Menschen davon profitieren? Darüber diskutieren wir morgen um 16:30 Uhr bei "Reclaim the Future". Schaltet ein! https://t.co/CP4Nfr97hI #1E9#FutureForum#BMWWelt
Drug development hard, but smoother when drugs designed to mimic natural resistance mutations
Today (L): @Regeneron evinacumab (monoclonal antibody neutralizing ANGPTL3) approved @US_FDA for lowering LDL in homozygous FH
2010 (R): humans who lack ANGPTL3 have ultra low LDL
Pathogenic mutations in non-coding regions of the genome in Mendelian disease: deletions in a lncRNA locus involved in limb patterning cause complex limb malformations in humans.