Yesterday I had the honor of being recognized for my work in genetics & genomics of human diseases with the "Matilde Montoya Award for Women in Biological Sciences and Medicine". I am grateful for this honor & motivated to continue pushing genomics to improve the diagnosis of #RareDiseases

Happy to share the publication in Human Genetics of our article reporting the efforts and results of a small pilot project we did for exome sequencing implementation in six low- and middle-income countries #LMICs as part of the Global Genomic Medicine Collaborative #G2MC

This week, undergrad student in the lab Aldair Hernandez presented with great success his Thesis project to obtain his BSc degree in Biochemical Diagnostics! Wonderful and rewarding to see students grow personally and academically and achieve these important milestones! #ProudPI

La #LCG presente en el Foro Internacional de la Red Global de Educación y Entrenamiento en Genómica #GGNET que se lleva a cabo en Bogotá, Colombia. La Coordinadora de @cgonzagaj.bsky.social investigadora @liigh-unam.bsky.social presentó la experiencia de 23 años de educación en #Genomica en México.

Starting now our last session of Genomics of Rare Disease #GRD26 @eventswcs.bsky.social on Therapeutics for #RareDiseases with Haiyan Zhou discussing "Nucleic Acid Therapies for RDs, Progress and Prospects in the UK" with examples for SMN and Hereditary neuropathy.

Last day of Genomics of Rare Disease #GRD26 conference starting now with the Lupski Lecture delivered this year by @WendyKChung talking about genomic newborn screening #gNBS through the GUARDIAN study to identify genetic disorders early at birth.

Session 5 of "What's New in Rare Disease?!" Part 2 starting now with super talk from Zané Lombard from University of Witwatersrand, South Africa talk about the need for genomic diagnostics in Africa and the work of the Africa DDD project. #GRD26

Fourth session at Genomics of #RareDisease conference #GRD26 on What's New in Rare Disease?! (Part 1) starting now with @dgmacarthur.bsky.social presenting on Integrating AI tools into rare disease diagnosis and reanalysis.

Good morning and we're ready to start the 3rd scientific session of this year's Genomics of Rare Disease #GRD26 conference @eventswcs.bsky.social with Factors affecting penetrance. First speaker is Henry Lee-Six @sangerinstitute.bsky.social speaking on Somatic mutations of NF1 in normal tissues.

Second session of #GRD26 @eventswcs.bsky.social starting now with invited speaker @hcmefford talking about "Multi-omics for gene discovery and precision medicine in pediatric epilepsies" through epigenomic and transcriptomic analyses of exome/genome negative epilepsy patients.

First session on NIPT, Prenatal, Perinatal research and diagnosis of #RareDiseases starting with Mike Talkowski talking about the Future of Prenatal Diagnostics #GRD26 @eventswcs.bsky.social

We're ready to kick off this year's Genomics of Rare Disease 20th Conference #GRD26 @eventsWCS with an amazing scientific program, celebrating 20 years of #RareDiseases research, discoveries, and advancements from genomic disorders to large scale and latest generation sequencing!

I'm super happy and excited to share that I've been promoted to Associate Professor with Tenure at @liigh-unam.bsky.social UNAM! Onwards to more years of human genetics and genomics research and to making genomics more equitable for everyone!!! 🤩🧬

I don't think it looks like me but that's what ChatGPT gave me. Celebrating Women and girls in science today!!! May we have many more girls go into science careers and women breaking glass ceilings everywhere! #11F 🧬🥼🧫🔬👩‍🔬 #Genetics #Genomics #WomenInSTEM

El estudio sobre enfermedades raras por parte del laboratorio de la @cgonzagaj.bsky.social continúa. La Lic. Tania Sepúlveda-Morales nos compartió acerca del síndrome de Weiss-Kruszka. Y el Dr. José Luis Téllez-Arreola nos habla del modelado de enfermedades del neurodesarrollo en C. elgans

Empezamos con las presentaciones del Laboratorio de Genómica Mendeliana y Salud de Precisión liderado por la Dra. Claudia Gonzaga-Jáuregui @cgonzagaj.bsky.social. El alumno Aldair Hernández presentó su proyecto de tesis, estimando la prevalencia de la deficiencia de G6PD.

Our Mendelian Genomics & Precision Health Laboratory @liigh-unam.bsky.social will be presenting three scientific talks on Thursday and 5 posters on Friday during this year's #LIIGH Academic Event 2026, all presented by students and trainees in our group! #DiasAcademicosLIIGH #ProudPI

LIIGH UNAM@liigh-unam.bsky.social · 8mo ago

Comenzamos con los Días Académicos 2026!! Gracias por la bienvenida dada por la Dra. Daniela Robles @daniela-oaks.bsky.social. Esperemos sea un evento muy enriquecedor para toda la comunidad del LIIGH.

Comenzamos con los Días Académicos 2026!! Gracias por la bienvenida dada por la Dra. Daniela Robles @daniela-oaks.bsky.social. Esperemos sea un evento muy enriquecedor para toda la comunidad del LIIGH.

¡¡Mañana comienzan los Días Académicos!!. El primer día escucharemos 11 ponencias y 18 pósters de los laboratorios de Genómica Mendeliana y Salud de Precisión, Genómica Regulatoria y Bioinformática, Biología Evolutiva de Sistemas, Genética del Cáncer y Paleogenómica. Nos vemos mañana.

¡Estamos muy emocionados porque la próxima semana tendremos la 3ra edición de los #DíasAcadémicosLIIGH2026 donde estudiantes de licenciatura, posgrado y postdocs estarán presentando el trabajo que realizan en @LIIGH_UNAM a través de 59 presentaciones orales y pósters!!!

Last but not least! We are now listening to Alda Hernandez, from @cgonzagaj.bsky.social's lab @liigh-unam.bsky.social, who is telling us about his project on G6PD deficiency in the Mexican population 🇲🇽 #LIIGHColloquium2025

The third talk of the Medical Genomics session #LIIGHColloquium2025 is being given by @cgonzagaj.bsky.social, PI at the Mendelian Genomics & Precision Health at @liigh-unam.bsky.social, and is on the landscape of rare diseases in Mexico 🇲🇽 and LatAm @liigh-unam.bsky.social

I am excited to announce that I will be speaking at the 4th Public Policy Projects Genomics Conference tomorrow! The conference will focus on how #genomics research can be used as a driver of economic growth and how we can achieve this equitably in healthcare settings worldwide.

Today I will be chatting with the amazing Catalina López Correa about #RareDiseases and #Genomics in #LatinAmerica 📅 Join us today at 6pm Mexico, 7pm Colombia!

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 !!!

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...

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.

nature.com

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.