Claudia Gonzaga-Jauregui
@cgonzagaj
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Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Tweets/opinions are my own. 🇲🇽 @cgonzagaj 🐦🦣☁️🧵
Joined May 2013
Very proud to share the news that "Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches" is officially published today @ElsevierConnect The 1st comprehensive text book on the study & advances of #RareDiseases understanding through #genomics (1/n)
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RT @davidrliu: “With the welcome mat withdrawn for promising researchers from around the world, America is at risk of losing its longstandi….
nytimes.com
With the welcome mat withdrawn for promising researchers from around the world, America is at risk of losing its longstanding pre-eminence in the sciences.
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RT @AndrewYNg: I am alarmed by the proposed cuts to U.S. funding for basic research, and the impact this would have for U.S. competitivenes….
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#ProudPI today after @lcgejunam students @VelaValeria98 and Ariana Silva of our Mendelian Genomics & Precision Health Laboratory @LIIGH_UNAM 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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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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RT @GonzagajMx: Gran gusto participar esta semana en el 2do Congreso Español de Medicina Genómica @Nebrija en Madrid, España participando e….
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RT @GonzagajMx: Mañana tendré el gran gusto de presentar nuestro trabajo sobre Genómica de Desórdenes del Neurodesarrollo a la Comunidad de….
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RT @GeneticsSociety: ASHG is concerned about the research cuts in the proposed U.S. FY26 budget, forecasting substantial reductions to the….
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RT @ReMexER1: Este 29 de Abril se conmemora el Día de las #EnfermedadesNoDiagnosticadas #UndiagnosedDiseaseDay! Desde #REMEXER nos sumamos….
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RT @ReMexER1: A través de nuestras actividades de investigación, educación y divulgación trabajamos para que más pacientes en México tengan….
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RT @GeneticsSociety: 🎉Congratulations to our incredible #DNADay25 winners — your words inspired, educated, & wowed us! Well done to our hon….
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RT @PNASNews: A rare genetic variant associated with depression in an extended Old Order Mennonite family is tied to hyperactivity in a bra….
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Huge thanks to everyone that contributed to this important discovery, especially Brad Miller and Sander Markx @Columbia, Karla Brigatti, Erik Puffenberger, and Kevin Strauss at the Clinic for Special Children, @CrisVanHout, and many colleagues at Regeneron!.
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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 👇🏽.
pnas.org
Major depressive disorder (MDD) is a leading cause of disability worldwide. Risk for MDD is heritable, and the genetic structure of founder populat...
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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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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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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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Super excited and proud to share the publication of our article @PNASNews reporting a rare missense variant in GPR156 associated with Depression. Although an orphan GPCR with no known binding partners, GPR156 is expressed in the habenula, known to be involved in mood regulation.
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Congrats to PhD student @VictorFloresOc whom I co-mentor with @mrenteria_ and Kishore Kumar @QIMRB_Institute on studying the genetic causes of Parkinson's Disease in Mexican & Australian patients, Amanda Lim and co-authors!.You can read the full article👇🏽.
mdpi.com
Background: Parkinson’s disease (PD) is a genetically complex neurodegenerative disorder. Up to 15% of cases are considered monogenic. However, research on monogenic PD has largely focused on...
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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 that have not been described yet. (2)
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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)
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