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

"...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...

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 🧵

Last Plenary Session of #ASHG25 starting with the Distinguished Speaker Symposium on the topic of AI-Powered Genomics: Transforming Data into Insights.

What we discovered during the #ASHG25 Featured Plenary Abstract Session III—the complexity of the human genome can be studied through many innovative approaches/tools, and there’s a need for more globally representative genomes and cohorts. #ASHG

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

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

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

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

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.

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

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.

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!

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

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!!!

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.

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)

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! 🧬

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

Starting the last day of the Genomics of Rare Disease #GRD25 Conference with a Session on Genomics of #RareDiseases Around the World. First speaker is @alkuraya talking about Adult Genomics and the Opportunities for Precision Medicine.

5th Session at this year's #GRD25 Beyond DNA Sequencing starting now with Gregory Findlay from The Crick Institute talking about "Mapping the functional spectrum of human variation across dozens of disease gene" through saturation genome editing & pooled prime editing assays

Fourth session for #GRD25 on "Bridging the gap between rare and common diseases" starting now with Hillary Martin from @sangerinstitute.bsky.social on the Impact of Rare and Common Variants in Cognitive Development and what that teaches us about Neurodevelopmental disorders

We're starting the 2nd day of Genomics of Rare Disease #GRD25 learning more about What's New with Rare Disease? First speaker of the session is @zornitza.bsky.social talking about Scalable automated reanalysis in #RareDiseases Are we there yet?

Starting the 2nd session of #GRD25 with the 1st part of What's New in #RareDiseases First talk by Dalia Kasperaviciute from Genomics England presenting the Early results from the Generation Study screening for treatable conditions in 100k newbors.

After a great keynote talk, our first speaker on the #GRD25 Therapeutics session is Profr. Hagit Baris-Feldman from Tel Aviv University talking about "From Rare Diseases to Common Cure"

We're kicking off the 19th Genomics of Rare Disease #GRD25 Conference at the beautiful Wellcome Genome Campus! Happy and excited to be part of the Scientific Organizing Committee this year and proud to say we got a great program! Tune in for live updates!

On my way to Genomics of Rare Disease at the Wellcome Genome Campus this week! Looking forward to a great scientific program and learning about the latest on #RareDiseases from around the world! @eventswcs.bsky.social Also look at the pretty Aeromexico plane I got for this 9h35m flight!

“These aren’t luxury items,” “They’re the core infrastructure of modern science.” - As unfortunate as this situation is, labs in the US will discover how is doing science in LMICs where most reagents & equipment are imported and we end up paying 2-5x more... www.nature.com/articles/d41...

Happy to share the recent #IRDIRC publication on Drug-device combinations (DDCs) for Rare Diseases, where we discuss the challenges and needs to consider access, equity and regulation of DDCs for delivering therapies effectively in patients living with #RareDiseases

Not good. Eric Green has always been a great champion for human genomics. Sad news. 😞

Wonderful to be last week in Athens for the Global Genomics Education & Training Summit to discuss the efforts and needs for education and training of students, professionals, and the healthcare workforce to better implement genomics for #PrecisionMedicine and health equity around the world! 🌎

Kicking off #RareDiseaseDay activities this week participating in the webinar of the Brazilian Society of Medical Genetics and Genomics #SBMG talking about Efforts for implementation of genomics for #RareDiseases in Mexico and Latin America @liigh-unam.bsky.social #REMEXER #CEPCAL_LATAM

Excited to be on my way to Athens, Greece to attend the International Genomics Education & Training Summit organized by @who.int and @nhsenglandldn.bsky.social to discuss with colleagues from around the world the importance of #Genomics education, training, and adoption to improve peoples' health.

This month's theme at school is "My Family" and so the homework for tomorrow is to do their family tree. Geneticist mom mode activated! 🧬🌳

It is wonderful and beautiful to see our latest article now formatted and published in #HGGAdvances! Here we performed analyses of intrachromosomal repeated sequences (≥200bp, ≥80% identity) that can serve as substrates for the generation of genomic rearrangements in the human genome 🧬

Mendelian Genomics and Precision Health Laboratory lab students and postdoc had excellent poster presentations and insightful discussions during the #HorizonsInGenomics Colloquium @liigh-unam.bsky.social #LIIGH10

This weekend we are celebrating our 10th Anniversary Colloquium on Horizons in Genomic Sciences reflecting on the history of @liigh-unam.bsky.social and its progress and growth over the last decade propelling #GenomicSciences in Mexico and internationally. Happy first ten years #LIIGH!!!

Coming full circle as almost 22 years ago I started my wonderful scientific journey as an undergraduate student of the Genomic Sciences program of UNAM, the first of its kind in Mexico and at the time one of few in #genomics Happy to take on now as Program Coordinator in Querétaro!

Our latest article cataloguing & analyzing repeated sequences in the human genome that can lead to genomic rearrangements in three commonly used assemblies is now online @hggadvances.bsky.social Check out this paper from our lab @liigh-unam.bsky.social in collaboration w/ @claucarvalho.bsky.social

📢Online now! 📰Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies 🧑‍🤝‍🧑 @cgonzagaj.bsky.social @claucarvalho.bsky.social & colleagues 👉 bit.ly/3DBKbMt