Rocío Acuña-Hidalgo

Scientist & entrepreneur working on genetics and health. Co-founder & CTO @nostosgenomics. Passionate about rare disease, piñata consultant in my spare time.

[Rocío Acuña-Hidalgo @burstingcell]

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. :)

[Nostos Genomics @nostosgenomics]

🧬 Diagnose more patients with AION’s advanced CNV feature! 🚀Accelerate CNV interpretation with automated ranking, ACMG criteria and seamless clinical evidence integration. 👉 https://t.co/LNm7pfx2FO

#Genomics #Genetics #CNV

https://t.co/TE8EcAA2lr

[David Gorgan @davidgorgan]

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) 🧬

[Nostos Genomics @nostosgenomics]

We're attending the 13th #NACG workshop in Stockholm next week! We'd love to meet you if you're there -- get in touch via [email protected]! 🧬 #genomics #ngs #RareDisease

[Rocío Acuña-Hidalgo @burstingcell]

@gaattagca That sounds great! Looking forward to see you again. <3

[Rocío Acuña-Hidalgo @burstingcell]

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! :)

[Rosa Hidalgo @mrosahidalgo]

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 🧵

[arianna tucci @arianna_tucci]

Diagnostics of repeat expansions has relied on targeted PCR tests. We now show that #WGS can detect pathogenic expansions at a clinical diagnostic standard.

Out now @TheLancetNeuro!
@GenomicsEngland @UCLIoN @NHSgms @illumina @QMUL
https://t.co/AJ3n8XFbiY

[Rocío Acuña-Hidalgo @burstingcell]

@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

[Rocío Acuña-Hidalgo @burstingcell]

@CardenalGon @nostosgenomics Hi there, your DMs seem to be closed. Maybe send me a message via Twitter or on LinkedIn? :)

[Rocío Acuña-Hidalgo @burstingcell]

@lea_starita @uwgenome Congratulations!!! Very happy for you!

[Nostos Genomics @nostosgenomics]

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

[Center for the Multiplex Assessment of Phenotype @CEGS_CMAP]

Lea Starita on the progress and promise of Multiplex Assays of Variant Effects for clinical variant interpretation #varianteffect21 @lea_starita

[Rocío Acuña-Hidalgo @burstingcell]

.@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

[Nostos Genomics @nostosgenomics]

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

[RARE Revolution Magazine® @RareRevolutionM]

28 Days of RARE - our Charity Partner @foundation_sgs represent and support children with SGS and their families.

To see the video in full visit our other social media channels: Facebook @RareRevolutionMagazine

#rarediseaseday #rarediseaseday2021 #SGS #schinzelgiedionsyndrome

[Nostos Genomics @nostosgenomics]

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 🧬

[Rocío Acuña-Hidalgo @burstingcell]

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

[1E9 @1E9tech]

#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

[Rocío Acuña-Hidalgo @burstingcell]

@lsandovas Muchas gracias Louis!!! Se agradece. :)

[Sek Kathiresan MD @skathire]

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

[Rocío Acuña-Hidalgo @burstingcell]

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.

[Lila Allou @lila_allou]

Below, you find a full thread and for more details check out our work here: https://t.co/X2qnEnWCpQ