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Reposted by Claudia Gonzaga-Jauregui

Chris Gunter 🧬 @girlscientist.bsky.social · 12h

Welcome to #ASHG25! As our President Sarah Tishkoff just noted, next year for the first time the ASHG exec cmte will be all women. Glad to have anyone and everyone participating in this society now and in the future.

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 10h

Final talk of this first Plenary Session is Ivy Bethea presenting on addressing the shortage and need of clinical genetics experts through large language models. Evaluated whether LLMs can perform similarly to geneticists. LLMs performed comparable or better overall #ASHG25

Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 11h

Next, Emma Wilson from UNC talking about identifying candidate genes and potential drug targets for central obesity through a multi-ancestry meta GWAS of data from the GIANT Consortium. Prioritized 1,185 genes some of which are drug targets and could be therapeutic targets #ASHG25

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 11h

Next, JangKeun Kim from Weill Cornell Medicine presenting about the Space Omics and Medical Atlas (SOMA) project to profile human body adaptation to space travel. Collecting bio specimens from astronauts for multi-omics analyses #ASHG25

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 11h

First Plenary Abstract Session of #ASHG25 starting with Srikar Gopinath from Yale describing their study characterizing >1M variants in the 5' UTR regions to assess their functional effects on gene translation and develop a prediction algorithm to evaluate non-coding UTR variation.

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 12h

Following a Special Recognition by @geneticssociety.bsky.social to Francis Collins for his contributions to human genetics and genomics. This is Dr. Collins's 48th #ASHG meeting. It is critical to continue interrogating variation in diverse populations! #ASHG25 #ASHG2025

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 12h

Full room as we kick off #ASHG25 with welcoming remarks by @geneticssociety.bsky.social president Sarah Tishkoff talking about the need to make human genetics & genomics to populations everywhere. "We are stronger when we stand together" #ASHG2025

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 1d

Absolutely! Wouldn't miss it for anything! Will take the opportunity to congratulate you in person there!

Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 1d

Arrived in Boston for the genetics event of the year #ASHG2025! Brushing up on my genetics at the Museum of Science in preparation for a week full of genetics & genomics excitement! @geneticssociety.bsky.social

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 4d

Happy to be this weekend at the International Porphyrias Symposium 2025 as a Keynote speaker talking about our efforts to improve awareness and molecular diagnostics of #RareDiseases in Latin America and the Caribbean through the #CEPCAL collaborative.

Reposted by Claudia Gonzaga-Jauregui

lcgej.bsky.social @lcgej.bsky.social · Aug 11

New semester, new bluesky account!
We start this new semester at UNAM welcoming new and current students of the Genomic Sciences Undergraduate Program at UNAM in Juriquilla!

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Reposted by Claudia Gonzaga-Jauregui

Daniela Robles-Espinoza @daniela-oaks.bsky.social · May 29

The last talk of this block is being given by Valeria G. Vela, also working with @cgonzagaj.bsky.social, and she is talking about hemoglobinopathies in the Mexican population #LCGUNAM @liigh-unam.bsky.social

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Reposted by Claudia Gonzaga-Jauregui

Daniela Robles-Espinoza @daniela-oaks.bsky.social · May 29

We are now listening from @arianasilva.bsky.social, who is working with @cgonzagaj.bsky.social, talk about SMARCA5 variants and their association with a novel neurodevelopmental disorder #LCGUNAM @liigh-unam.bsky.social

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · May 29

#ProudPI today after students Valeria Vela and Ariana Silva of our Mendelian Genomics & Precision Health Laboratory @liigh-unam.bsky.social presented the projects that they'll be working on during their 4th year of research in the Genomic Sciences Undergraduate Program!!!

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · May 24

Wow! Such sad intervention from Mexico at this year's World Health Assembly using this global forum for health to advertise IMSS Bienestar instead of actually committing to improving healthcare in Mexico & supporting important initiatives like the #RareDiseases #Resolution4Rare

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · May 22

Excited to be attending this week the 2nd Spanish Congress of Genomic Medicine at Universidad Nebrija in Madrid, Spain! I'll be participating in a session and panel about the advances, barriers and challenges of implementing genomics for Precision Medicine in Latin America.

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · Apr 16

Huge thanks to everyone that contributed to this important discovery, especially Bradley Miller and Sander Markx @columbiauniversity.bsky.social, Karla Brigatti, Erik Puffenberger, and Kevin Strauss at the Clinic for Special Children, @crisvanhout.bsky.social, and many colleagues at Regeneron!

Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · Apr 16

It is wonderful to see this finally out! This was an exciting and most interesting project throughout, from the discovery of the variant to the mice generation and phenotyping, and seeing it through until now! Read the full article here 👇🏽

www.pnas.org/doi/abs/10.1...

PNAS

Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans...

www.pnas.org

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · Apr 16

We also replicated the genetic finding by looking at individuals from the MyCode Geisinger Health Initiative that carried the same variant. 8/10 carriers had ICD codes for depression and had been prescribed antidepressants. Overall ~2x increased risk of depression for carriers.

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · Apr 16

The gene was found to be strongly expressed in the medial habenula. Gpr156 KO and modified mice carrying the orthologous variant in the mouse gene showed abnormal behaviors in response to stress. These behaviors improved after 9 weeks of treatment with fluoxetine, an SSRI.

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · Apr 16

Initially discovered this variant segregating in a large Mennonite pedigree with familial history of anxiety & depression about 8-9 years ago! Given the expression of GPR156 in the brain and its close similarity with GABA receptors, this prompted us to do functional modeling.

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · Apr 16

Super excited and proud to share the publication of our article @pnas.org reporting a rare missense variant in GPR156 associated with Depression. Although an orphan GPCR with no known binding partners, GPR156 is expressed in the meedial habenula, a region known to be involved in mood regulation...

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · Apr 16

This work highlights the importance & need to perform genomic studies in diverse populations as not all described pathogenic/likely pathogenic monogenic PD variants are present in all populations or at the same frequencies, plus likely more not described yet. Read here👇🏽

www.mdpi.com/2073-4425/16...

www.mdpi.com

Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · Apr 16

Happy to share the publication of our recent article describing differences in alleles & frequencies for pathogenic & likely pathogenic variants in genes associated with monogenic #Parkinson disease across different ancestries. About 15% of PD cases are considered monogenic. (1/2)

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