Lmst

Thanks to #ASHG for the chat with @thatdnaguy about the importance of diversity, representation & inclusion of women & underrepresented populations in #Genomics research/workforce and a bit about some lessons learned throughout my career as part of the Genetically Speaking Podcast!
https://open.spotify.com/episode/5Ib2ukNM9YY3CGbVhWknsm

Cool to see my research word cloud!!!
I guess I've found some variants and mutations in genes that cause some diseases and syndromes through some sequencing!
#RareDiseases #Genomics

Happy to share the preprint of our manuscript reporting analyses of genome-wide repeated sequences that can potentially mediate ectopic recombination events in 3 human genome assemblies (hg37, hg38 & T2T-CHM13) @biorxiv_genomic @biorxivpreprint

https://www.biorxiv.org/content/10.1101/2024.01.29.577884v1

First manuscript of 2024 submitted!!! This would be the first article (of many to come!) of work done completely in my lab in Mexico! Fingers crossed for a prompt and benign review process! 🤞🏼

-Iberoamérica is formed by countries that used to be colonies of countries of the Iberian peninsula, Spain and Portugal.
Overall, Latin America is preferred. So now you know🌎

If still unsure how to refer to the vast lands south of the United States, here is some perspective.
- America is the whole continent.
- Latin America is the whole region of the American continent where languages derived from Latin are spoken, Spanish, Portuguese and French.
- Hispanoamérica is conformed by countries where Spanish is spoken due to being past colonies of Spain.

Getting some final paper reviewing/editing (acceptances too!!) before the festivities kick in!
Check out our Special Research Topic "Rare Diseases Research and Diagnosis in LMICs" @FrontGenetics for some excellent papers coming out!
Happy holidays authors!

https://www.frontiersin.org/research-topics/52607/rare-diseases-research-and-diagnosis-in-low--and-middle-income-countries

Finally starting my leisure vacation reading today!!! Yes, I'm still working on those 3 manuscripts to submit (and editing other manuscripts too) but will take breaks to read something else. Usually, I read SciFi for fun but I've been wanting to read this one for a while 🤗

Claudia Gonzaga-Jauregui 🧬 boosted:

I was interviewed by El Universal, a major newspaper in Mexico, about our work investigating the causes of genetic #RareDiseases to shorten the diagnostic odyssey, discover new disease associated genes and implement #PrecisionMedicine in Mexico #LIIGH_UNAM #ReMexER

Super happy I got my copy of the latest @nature issue with the #MexicanGenomics 🇲🇽 cover!!! Representation really means a lot for those who don't often see themselves represented. May this be the 1st of many covers for Mexican & Latin American Genomics!!!

Excited to be in chilly DC 🍂 for #ASHG2023 #ASHG23! Sad that this is my last BoD meeting but grateful for the opportunity and learnings of the last 3 years as the Early Career BoD member. Ready to celebrate #OneHumanityManyGenomes and 75 years of @geneticssociety 🧬!!!
🎉🎉🎉🎉🎉

Beautiful art work in the latest front cover of @Nature to illustrate the diversity of Mexican Genomics as evidenced by the recent publication of MX Biobank and MCPS. Great genomics resources for a Latin American population, we need more large-scale genomics projects for underrepresented populations, but also the time & resources to analyze, derive and implement insights, and train students to work with these data.
#GenomicEquity #LatinAmerica #LATAM #LMICs #Genomics

"Two years of advance access to the data is hardly enough to level the playing field between researchers in Mexico and those in wealthier nations"
⏰is ticking! If you're a Mexican student interested in working w/data from Mexicans for population health, contact us!

https://www.nature.com/articles/d41586-023-03239-4

Analysis by the Global Observatory on Health Research & Development of #WHO: As little as 0.2% of all grant funding for noncommunicable diseases (NCDs) was allocated to institutions in LMICs, where an estimated 7 out of 10 NCD deaths now occur. #GlobalEquity

https://health-policy-systems.biomedcentral.com/articles/10.1186/s12961-023-00979-7

Great talking to #Glycocast Podcast hosts about the challenges of finding diagnoses & doing research for #RareDiseases in Mexico & Latin America and our work Laboratorio Internacional de Investigación sobre el Genoma Humano with the Mexican Network for Rare Diseases #ReMexER as well as the ongoing efforts in #LATAM through Enfermedades Raras en el Caribe y América Latina (ERCAL) You can listen now!

https://open.spotify.com/episode/3B8uFltuaf25g7rjPKnZ7r

We need to increase the number of genomic studies in underrepresented LatinAmerican pops to enable #PrecisionHealth
#Genomics can and should be used to reduce global health inequities but only by achieving greater diversity & representation of 🌎 populations.

https://www.science.org/content/article/what-mexican-huge-genetic-database-untangles-complex-history

Today we had our annual Chilaquiles Lab Social! Grateful for the research group we've formed #LIIGH_UNAM! Happy to work with & contribute every day to the education & training of this group of brilliant & enthusiastic young scientists in #Genomics #RareDiseases #PrecisionHealth

Thanks to the American Society of Human Genetics #ASHG and the American Journal of Human Genetics #AJHG for the interview and opportunity to talk about my career, the challenges throughout, but also my hopes & recommendations for the new generations of scientists, as well as the need to increase diversity & equity across the scientific enterprise. #Genomics #GenomicEquity #RareDiseases #EnfermedadesRaras #REMEXER #ERCAL #ERCALrd #SoyMiembroERCAL #ERCALMember

https://www.cell.com/hgg-advances/ashg-spotlight-ecr-equity

Excited to be in Geneva & Switzerland 1st time for the @GlobalGenMed meeting. Looking forward to connecting with colleagues & discussing how we can work collaboratively & equitably to enable implementation of #GenomicMedicine #PrecisionHealth in Latin America and other LMICs.

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