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
"...researchers who invest time in their students tend to lead more-productive, more-collaborative groups and attract stronger future students than those who do not." "Time spent with the next generation of scientists is an investment."
www.nature.com/articles/d41...
www.nature.com/articles/d41...
What makes PhD students happy? Good supervision
Supervisors who invest in positive mentoring relationships with their PhD candidates also reap the benefits for their own research.
www.nature.com
October 24, 2025 at 10:46 PM
"...researchers who invest time in their students tend to lead more-productive, more-collaborative groups and attract stronger future students than those who do not." "Time spent with the next generation of scientists is an investment."
www.nature.com/articles/d41...
www.nature.com/articles/d41...
And it's a wrap for #ASHG25!!! 🤩
Great talks, discussion, and insights!
My personal takeaways and thoughts:
- Everyone is VERY interested but still unclear on how AI can help us do better science from research, finding new genes, drug targets, predict outcomes, and publishing 🧵
Great talks, discussion, and insights!
My personal takeaways and thoughts:
- Everyone is VERY interested but still unclear on how AI can help us do better science from research, finding new genes, drug targets, predict outcomes, and publishing 🧵
October 18, 2025 at 5:14 PM
And it's a wrap for #ASHG25!!! 🤩
Great talks, discussion, and insights!
My personal takeaways and thoughts:
- Everyone is VERY interested but still unclear on how AI can help us do better science from research, finding new genes, drug targets, predict outcomes, and publishing 🧵
Great talks, discussion, and insights!
My personal takeaways and thoughts:
- Everyone is VERY interested but still unclear on how AI can help us do better science from research, finding new genes, drug targets, predict outcomes, and publishing 🧵
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.
Reposted by Claudia Gonzaga-Jauregui
Starting the Third Plenary session #ASHG25 with Lingbin Ni from the Eichler Lab at University of Washington presenting Haplotype-resolved chromatin differences and structural variation using 177 Human Pangenome Reference Consortium samples finding haplotype-specific HiC contacts.
October 17, 2025 at 9:12 PM
Starting the Third Plenary session #ASHG25 with Lingbin Ni from the Eichler Lab at University of Washington presenting Haplotype-resolved chromatin differences and structural variation using 177 Human Pangenome Reference Consortium samples finding haplotype-specific HiC contacts.
Erica Vaccari presenting results from work on analyzing reimbursement of germline genetic testing and how it is impacted by socioeconomic characteristics and type of insurance. Hispanics and people with Medicaid were less likely to be reimbursed for genetic testing #ASHG25
October 16, 2025 at 9:45 PM
Erica Vaccari presenting results from work on analyzing reimbursement of germline genetic testing and how it is impacted by socioeconomic characteristics and type of insurance. Hispanics and people with Medicaid were less likely to be reimbursed for genetic testing #ASHG25
Second Featured Abstract Plenary Session of #ASHG25 starting with Antonio Adamo presenting on studies in his lab of supernumerario X chromosome aneuploidy using brain organoids showing that increased X chromosome dosage leads to neuronal impairment and electrophysiological abnormalities.
October 16, 2025 at 9:19 PM
Second Featured Abstract Plenary Session of #ASHG25 starting with Antonio Adamo presenting on studies in his lab of supernumerario X chromosome aneuploidy using brain organoids showing that increased X chromosome dosage leads to neuronal impairment and electrophysiological abnormalities.
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
Reposted by Claudia Gonzaga-Jauregui
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.
October 14, 2025 at 8:25 PM
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.
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.
October 14, 2025 at 9:27 PM
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.
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.
Reposted by Claudia Gonzaga-Jauregui
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!
We start this new semester at UNAM welcoming new and current students of the Genomic Sciences Undergraduate Program at UNAM in Juriquilla!
August 11, 2025 at 10:48 PM
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!
We start this new semester at UNAM welcoming new and current students of the Genomic Sciences Undergraduate Program at UNAM in Juriquilla!
Reposted by Claudia Gonzaga-Jauregui
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
May 29, 2025 at 9:54 PM
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
Reposted by Claudia Gonzaga-Jauregui
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
May 29, 2025 at 9:29 PM
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
#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!!!
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
May 24, 2025 at 9:17 AM
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
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.