NEWS ABOUT OUR RESEARCH | NOTICIAS SOBRE NUESTRA INVESTIGACIÓN
Follow the newest scientific publications and research news from the Mendelian Genomics & Precision Health Laboratory at the International Laboratory for Human Genome Research (LIIGH) here!
Sigue la publicaciones y noticias más recientes del Laboratorio de Genómica Mendeliana y Salud de Precisión del Laboratorio Internacional de Investigación sobre el Genoma Humano (LIIGH) aquí!
“Identifying the molecular cause of rare genetic disorders” Interview in BioTechniques
Dr. Gonzaga-Jauregui was interviewed by Aisha Al-Janabi, Assistant Editor of BioTechniques about the work of the Mendelian Genomics and Precision Health Laboratory´s work in studying Rare Diseases and the importance of increasing diversity and including underrepresented populations in genomic studies. She also talked about the contributions of the Hispanic community to science and society. Read the full interview here.
What does Hispanic Heritage Month mean to you?
It is an opportunity to recognize the work and contributions that Hispanic and Latin American researchers do in the context of the US. It’s a chance to acknowledge what Hispanics and Latin Americans bring in terms of culture and in terms of genetic diversity to these very cosmopolitan and diverse countries like the US or the UK and other places. I think we should also use this month as an opportunity to think about the needs of these communities in terms of representation and access to healthcare among other services.
DR. CLAUDIA GONZAGA-JAUREGUI, “Identifying the molecular cause of rare genetic disorders”, BIOTECHNIQUES, 22 SEP 2022
Our Lab was featured in Cell’s Lab Spotlight!
We had a fun photoshoot session for our lab spotlight with Cell journal on Instagram. Checkout some of the fun pictures of our group!
In this Lab Spotlight, we are pleased to introduce you the Mendelian Genomics and Precision Health Laboratory at the Laboratorio Internacional de Investigación sobre el Genoma Humano (LIIGH) @unam_mx!
Dr. Claudia Gonzaga-Jauregui and her fellows apply genomic approaches to identify novel variants and genes associated with rare and undiagnosed diseases. Projects in the lab range from analysing short- and long-read genomic sequencing data in patients and families with genetic disorders, to the study of uncharacterized variation associated with diseases in populations from Mexico and Latin America.
In the end, the identification of medically actionable variation enabling precision health in underrepresented populations is the goal of this team of postdocs, graduate students and many very talented and enthusiastic undergraduate students from the Genomics Sciences and Biotechnology undergraduate programs at UNAM, UANL and UAQ universities.
“We are a hard-working but fun lab!” says Dr. Claudia Gonzaga-Jauregui. As far as we can see from these photos, such claims definitely check out! 😄
To further explore the research being done in the Gonzaga-Jauregui lab, click on this image in our link in bio 👉 @cell_journal
💡 Cell Lab Spotlights serve to showcase all of the hard-working undergrads, graduate students, post doctoral fellows, and professors behind the most exciting science in the world!
Iniciamos proyecto de Registro y Estudio de Prevalencia de Enfermedades Raras y Poco Frecuentes en México!!!
El pasado 28 de febrero durante el 2do Simposio Internacional del Día de las Enfermedades Raras (#SIDERmx2022) organizado por la Red Mexicana de Enfermedades Raras (ReMexER) y el Laboratorio Internacional de Investigación sobre el Genoma Humano (LIIGH) de la UNAM, nuestro laboratorio lanzó el proyecto de Registro y Estudio de Prevalencia de Enfermedades Raras y Poco Frecuentes en México en el marco de la conmemoración del Día Mundial de las Enfermedades Raras (Rare Disease Day). El propósito de este estudio es obtener información sobre el número de pacientes con enfermedades raras y poco frecuentes en México, cuántos de ellos cuentan con un diagnóstico preciso, los retos con los que viven los pacientes y sus familias, así como sus actitudes hacia pruebas genéticas y participar en estudios de investigación.
Para obtener más información sobre este estudio de investigación y participar en el Registro, visita la página de la Red Mexicana de Enfermedades Raras aquí.
Para leer más sobre el evento del 2do Simposio Internacional del Día de las Enfermedades Raras y ver el video del evento completo, visita aquí.
New book on Genomics of Rare Diseases published
A new book focused on the application of Genomics to the study of rare diseases was released earlier this summer. Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches is the first text book on this subject covering fundamental concepts of genetics and genomics and the different technologies applied to the study and better understanding of human genetic diseases.
Read a press release this new book (artículo también en español):
Un nuevo libro enfocado en la aplicación de metodologías genómicas para el estudio de enfermedades raras fue publicado recientemente. Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches es el primer libro de texto que cubre conceptos fundamentales de genética y genómica, así como las diferentes tecnologías aplicadas al estudio y mejor entendimiento de las enfermedades genéticas humanas.
Lee también el artículo en la Gaceta UNAM: “Hay en el mundo 7 mil enfermedades raras“
PacBio SMRT Grant for Undiagnosed Diseases
August 23, 2021
We have been awarded one of three HiFi for Accuracy SMRT Grants from PacBio to perform long-read whole genome sequencing for patients with unsolved undiagnosed rare genetic disorders! Read more about the SMRT grants program in the PacBio Blog post here.