Claudia Gonzaga-Jauregui
@cgonzagaj.bsky.social
Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Opinions are my own.
@cgonzagaj everywhere 🐦🦣☁️🧵
@cgonzagaj everywhere 🐦🦣☁️🧵
It's been a great week listening to great talks, catching up with Latin American colleagues, having insightful conversations about the present & future of Genetics, Medical Genomics & Precision Medicine in Mexico, and enjoying the beautiful weather during the 50th National Congress of Human Genetics
November 16, 2025 at 4:56 PM
It's been a great week listening to great talks, catching up with Latin American colleagues, having insightful conversations about the present & future of Genetics, Medical Genomics & Precision Medicine in Mexico, and enjoying the beautiful weather during the 50th National Congress of Human Genetics
Happy Halloween and Día de Muertos season from the Mendelian Genomics and Precision Health Lab @liigh-unam.bsky.social !!!
November 1, 2025 at 2:24 AM
Happy Halloween and Día de Muertos season from the Mendelian Genomics and Precision Health Lab @liigh-unam.bsky.social !!!
Deeply honored and grateful to have received the Reconocimiento Distinción Universidad Nacional para Jóvenes Académicos (RDUNJA) for research in the Natural Sciences 2025. This prestigious distinction is awarded to young investigators by UNAM, the National Autonomous University of Mexico. #Genomics
October 30, 2025 at 3:41 AM
Deeply honored and grateful to have received the Reconocimiento Distinción Universidad Nacional para Jóvenes Académicos (RDUNJA) for research in the Natural Sciences 2025. This prestigious distinction is awarded to young investigators by UNAM, the National Autonomous University of Mexico. #Genomics
#ASHG25 was great! Looking forward already to #ASHG26 in Montreal! And looking forward to a future where we can see all the awesomeness of genetics and genomics reach all people, countries & communities every day from timely diagnoses to precision health @geneticssociety.bsky.social ♥️🧬
October 18, 2025 at 5:15 PM
#ASHG25 was great! Looking forward already to #ASHG26 in Montreal! And looking forward to a future where we can see all the awesomeness of genetics and genomics reach all people, countries & communities every day from timely diagnoses to precision health @geneticssociety.bsky.social ♥️🧬
Finishing this interesting final session of #ASHG25 with a panel discussion on the better use of artificial intelligence in genetics and genomics.
October 18, 2025 at 4:49 PM
Finishing this interesting final session of #ASHG25 with a panel discussion on the better use of artificial intelligence in genetics and genomics.
Last talk #ASHG25 by Matthew Might from the University of Alabama on How AI is transforming genome-guided medicine through a personal and professional experience after trying to find the cause and later a therapy for his son Bertrand, the first patient with #NGLY1 deficiency.
October 18, 2025 at 4:26 PM
Next #ASHG25 speaker is Harry Farmer from @adalovelaceinst.bsky.social talking about The Politics or Prediction: exploring the societal, economic and ethical challenges of genomic health prediction.
October 18, 2025 at 4:06 PM
Next #ASHG25 speaker is Harry Farmer from @adalovelaceinst.bsky.social talking about The Politics or Prediction: exploring the societal, economic and ethical challenges of genomic health prediction.
Next, Euan Ashley from @Stanford talking about the impact of Artificial Intelligence. AI good/better than humans in some things but not everything. How to leverage AI for biomedical research and understand diseases, identify genes and predict outcomes #ASHG25
October 18, 2025 at 3:51 PM
Next, Euan Ashley from @Stanford talking about the impact of Artificial Intelligence. AI good/better than humans in some things but not everything. How to leverage AI for biomedical research and understand diseases, identify genes and predict outcomes #ASHG25
Starting with Olga Troyanskaya talking about AI Frameworks for whole genome functional annotation: from mechanisms to disease outcomes, focusing specifically on modeling the effects of autism associated variants in brain development and cell-specific expression #ASHG25
October 18, 2025 at 3:32 PM
Starting with Olga Troyanskaya talking about AI Frameworks for whole genome functional annotation: from mechanisms to disease outcomes, focusing specifically on modeling the effects of autism associated variants in brain development and cell-specific expression #ASHG25
Last Plenary Session of #ASHG25 starting with the Distinguished Speaker Symposium on the topic of AI-Powered Genomics: Transforming Data into Insights.
October 18, 2025 at 3:23 PM
Last Plenary Session of #ASHG25 starting with the Distinguished Speaker Symposium on the topic of AI-Powered Genomics: Transforming Data into Insights.
Also receiving awards for their publications in @geneticssociety.bsky.social journals @ajhgnews.bsky.social and @hggadvances.bsky.social Maria Palafox, Yu Fu, Hye In Kim and Maria Gutierrez-Arcelus!
October 16, 2025 at 9:07 PM
Also receiving awards for their publications in @geneticssociety.bsky.social journals @ajhgnews.bsky.social and @hggadvances.bsky.social Maria Palafox, Yu Fu, Hye In Kim and Maria Gutierrez-Arcelus!
ASHG Plenary Session starting with the awards ceremony honoring Eric Green with the Leadership Award of @geneticssociety.bsky.social reflecting on his career in human genetics & genomics leading the Human Genome Project & the NHGRI and the leadership principles he has learned throughout #ASHG25
October 16, 2025 at 8:47 PM
ASHG Plenary Session starting with the awards ceremony honoring Eric Green with the Leadership Award of @geneticssociety.bsky.social reflecting on his career in human genetics & genomics leading the Human Genome Project & the NHGRI and the leadership principles he has learned throughout #ASHG25
Now the Presidential Symposium starting with introduction by @geneticssociety.bsky.social President Sarah Tishkoff and four excellent speakers that will talk about "Unraveling the Genetic Foundations of Human Disease: Insights from the Past, Present, and Future" #ASHG25
October 15, 2025 at 9:09 PM
Now the Presidential Symposium starting with introduction by @geneticssociety.bsky.social President Sarah Tishkoff and four excellent speakers that will talk about "Unraveling the Genetic Foundations of Human Disease: Insights from the Past, Present, and Future" #ASHG25
Always fun to catch up with #LCG_UNAM alumni and see where life has taken each of us and what exciting science everyone is doing! Generations 1, 2, 5, 12 & 13 present at #ASHG25 #ASHG2025
@lcgej.bsky.social
@lcgej.bsky.social
October 15, 2025 at 9:01 PM
Always fun to catch up with #LCG_UNAM alumni and see where life has taken each of us and what exciting science everyone is doing! Generations 1, 2, 5, 12 & 13 present at #ASHG25 #ASHG2025
@lcgej.bsky.social
@lcgej.bsky.social
Starting the Plenary Session of today with the awards ceremony honoring Carole Ober with the Mentorship Award and Hal Dietz with the Lifetime Achievement Award of @geneticssociety.bsky.social #ASHG25 #ASHG2025
October 15, 2025 at 8:49 PM
Starting the Plenary Session of today with the awards ceremony honoring Carole Ober with the Mentorship Award and Hal Dietz with the Lifetime Achievement Award of @geneticssociety.bsky.social #ASHG25 #ASHG2025
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
October 14, 2025 at 8:56 PM
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
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
October 14, 2025 at 8:49 PM
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
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
October 13, 2025 at 4:42 PM
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
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.
October 10, 2025 at 12:45 PM
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.
#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!!!
May 29, 2025 at 11:14 PM
#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!!!
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.
May 22, 2025 at 10:31 AM
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.
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.
April 16, 2025 at 9:28 PM
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.
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.
April 16, 2025 at 9:27 PM
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.
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...
April 16, 2025 at 9:25 PM
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...
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)
April 16, 2025 at 2:10 AM
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)