Scientist & entrepreneur working on genetics and health. Co-founder & CTO @nostosgenomics. Passionate about rare disease, piñata consultant in my spare time.
Berlin, Germany
Joined June 2013
- Tweets710
- Following309
- Followers415
- Likes547
Pinned Tweet
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. :)
Rocío Acuña-Hidalgo retweeted
🧬 Diagnose more patients with AION’s advanced CNV feature! 🚀Accelerate CNV interpretation with automated ranking, ACMG criteria and seamless clinical evidence integration. 👉 nostos-genomics.com/news/div…
#Genomics #Genetics #CNV
youtu.be/VVj4M5XuqvU
Rocío Acuña-Hidalgo retweeted
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) 🧬
Rocío Acuña-Hidalgo retweeted
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 team@nostos-genomics.com! 🧬 #genomics #ngs #RareDisease
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! :)
Rocío Acuña-Hidalgo retweeted
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 🧵
Rocío Acuña-Hidalgo retweeted
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
thelancet.com/journals/laneu…
Rocío Acuña-Hidalgo retweeted
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
nostos-genomics.com
#raredisease #genomics
Rocío Acuña-Hidalgo retweeted
Lea Starita on the progress and promise of Multiplex Assays of Variant Effects for clinical variant interpretation #varianteffect21 @lea_starita
ALT Artist Alex Cagan's Sketch of Lea Starita presenting at the Mutational Scanning Symposium. Dr. Starita appears in center, in black jacket with grey patterned shirt. She is surrounded by text highlights from her talk.
.@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:
nostosgenomics.recruitee.com…
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!
nostosgenomics.recruitee.com…
Rocío Acuña-Hidalgo retweeted
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
Rocío Acuña-Hidalgo retweeted
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: bmw-welt.com/en/experience/p…
#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! reclaimthefuture.1e9.communi… #1E9 #FutureForum #BMWWelt
Rocío Acuña-Hidalgo retweeted
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.
Below, you find a full thread and for more details check out our work here: nature.com/articles/s41586-0…
Systematically. Rocco here. Sometimes Rocia or Rocky'O. Rocho for the Italians. Someone once thought my name was actually Roc°~o.
Rocío Acuña-Hidalgo retweeted
Research grant of over €2 Million ($2.5 Million) offers new hope for children with rare condition Schinzel-Giedion Syndrome! Read the full @foundation_sgs press release below.
Such an interesting read!!! I wonder if recurrent genetic events due to the high mutagenesis rates in placental tissue could cause gestational choriocarcinoma and other GTD... I found 2 papers linking germline P53 mutations to GTD, but not much on somatic mutations.
Delighted to share our first preprint of the year: sequencing somatic mutations in human placentas, where we find early lineage segregation, highly clonal development and extensive mutagenesis in this unique organ. Bear with me, it's a wild ride [1/16]
biorxiv.org/content/10.1101/…
Rocío Acuña-Hidalgo retweeted
I am very excited to share our first evolution paper about moles and their intersexuality, check it out! And if you want to learn more about it, scroll down ;-)
science.sciencemag.org/conte…
Rocío Acuña-Hidalgo retweeted
We're all so proud of the dream team @RealFany & @Dariloops for leading this incredible phylogenomic work on the origin of moles intersexuality. As we like to say in the lab, that is some Real Science! #evodevo #3DGenome science.sciencemag.org/conte…