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

It was wonderful to be part of this year's Genomics of Rare Disease #GRD25 Conference @eventswcs.bsky.social! Thank you to all speakers, in-person & virtual attendees, and fellow Scientific Program Committee members Anna Lindstrand, Stephen Montgomery & Malte Spielmann! See you for #GRD26! 🧬

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

Final talk of this year's #GRD25 conference, also selected from submitted abstracts, is Eva D'haene from Ghent University talking about "Non-coding structural variants disrupt a critical regulatory region steering FOXG1 transcription during early neurodevelopment"

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

Next from submitted abstracts, Alistair Pagnamenta from University of Exeter presenting on "A palindrome associated duplication-triplication on 16p13.3 causes cerebellar atrophy and progressive ataxia" #GRD25

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

Next talk of the 3D genome architecture session #GRD25 is by Alvaro Rada-Iglesias presenting on the Robust insulation of regulatory domains during development and in congenital disease.

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

Several stories written on ReNU syndrome and the impact on patients and families the finding and diagnosis have made, one to read from James Coney whose son Charlie got a final diagnosis for his condition. #GRD25
thetimes.com/life-style/par…

https://thetimes.com/life-style/par…

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

Last session of #GRD25 kicking off with a talk by Nicky Whiffin from @UniofOxford on The Expanding Role of snRNAs in neurodevelopmental disorders. ReNU syndrome caused by variants in the non-coding RNA RNU4-2 is remarkably prevalent with estimated 100k individuals in the world

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

The last speaker of this session is Fulya Taylan from @karolinskainst who will present on the Undiagnosed Diseases Network Sweden, a multidisciplinary collaborative network to identify diagnoses for patients with undiagnosed conditions. #GRD25

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

Our third talk in this #GRD25 session, selected from submitted abstracts is on Familial Hypercholesterolemia in Young Chinese Patients with Myocardial Infarction by Dr. Will Chan from University of Hong Kong.

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

Results from the retrospective analysis of the Brazilian Rare Disease Network found a diagnosis for >60% of patients, however the majority of the diagnoses were clinical with no molecular confirmation due to limited access to molecular testing. #GRD25

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

Second speaker in this session from around the world #GRD25 is Dr. Temis María Félix on the Treatment for Rare Diseases in Latin America, discussing the challenges for diagnosing, managing and treating #RareDiseases in Brazil and Latin America.

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