¡¡¡Feliz #DiaDelADN a todos!!!
Un día como hoy pero de 1953 se publicó en la revista científica Nature la estructura de la doble hélice del ADN y 50 años después se dió por terminado en abril de 2003 el #ProyectoGenomaHumano
¡ Celebramos hoy a la molécula de la vida!🧬 #DNADay24

🏆 Congratulations to the winners of the #DNADay24 Essay Contest! Congratulations and Well done to our winners and honorable mentions! Read the winning essays here: ashg.org/dna-day/ #ASHG #HumanGenetics

Today our Mendelian Genomics Lab LIIGH celebrated #DNADay going to talk and have fun activities about DNA, inherited traits, base pairing & rare diseases with little scientists! What better way to celebrate this day than to share our love for this beautiful molecule?! 🧬

'Citizenship privilege is an asset experienced by citizens of the global north, simply because of the country they were born in...people without it can experience safety concerns & feelings of distress, anxiety, in addition to bureaucratic difficulties'
nature.com/articles/d4158…

¡Estamos a sólo 6 meses del #CongresoCEPCAL y nos emociona anunciar a toda la comunidad de #EnfermedadesRaras #EnfermedadesPocoFrecuentes de #Latinoamerica que a partir de hoy está abierto el registro para participar en este importante evento para nuestra región!

Prefer learning on-the-go? Our #SpeakerSeries #webinar s , including our #RareDisease Day #webinar 'Equitable Access to #RareDisease Care' with Claudia Gonzaga-Jauregui & Kira Dineen, MS, LCGC, CG(ASCP)CM, are available to stream as #podcasts .

Spotify: open.spotify.com/episode/3MxuIY…
Apple Podcasts: podcasts.apple.com/ca/podcast/dr-…

'It’s not clear from the recent data release what’s driving the trends. But the declines coincide with a boom in hiring at biotech companies.'🤷🏽‍♀️ '...Americans were always less willing to put up w/ conditions that foreigners like myself had to put up with,”
science.org/content/articl…

Listen to #CEPCAL President Dr. Claudia Gonzaga-Jáuregui Claudia Gonzaga-Jauregui talk about the need to include underrepresented populations like the ones in Latin America and the Caribbean into genetic studies for better diagnosis and health equity for #RareDiseases #CEPCAL 2024

Barbara McClintock's family had little money, so at first her interest in research was viewed with skepticism. She studied corn's hereditary characteristics and was awarded the 1983 medicine prize for her discovery of mobile genetic elements.

Thanks to ASHG for the chat about the importance of diversity, representation & inclusion of women & underrepresented populations in #Genomics research/workforce and a bit about some lessons learned throughout my career as part of the Genetically Speaking Podcast!🧬

Wishing I was at #GRD2024 #GRD24 #FOMO to listen to great talks & catch up w/ colleagues Claudia M Carvalho Jennifer Posey Lisenka Vissers Anna Lindstrand Evan Eichler Shahida Moosa #CeaseFireNOW but this year I'm enjoying a bit of Chile🇨🇱 after a great conference last week on #RareDiseases by Gabriela Repetto 🧬

I'll leave this around so that you can spend some good 15 minutes making all sorts of consonant sounds, weird facial and tongue moves, while staring at your phone 😉

The recording of last month's #RareDisease Day #webinar , 'Equitable Access to #RareDisease Care' is now available to stream!

Gain insights from LIIGH's Claudia Gonzaga-Jauregui & host DNA Today: A Genetics Podcast's Kira Dineen, MS, LCGC, CG(ASCP)CM

Stream the complete discussion on-demand 4 free: bit.ly/4cpV5BX

#ProudPI of student Pamela Meza Cruz obtaining today her BSc degree in Genomic Biotechnology after presenting her thesis work developing a bioinformatics pipeline for the comprehensive analysis of PacBio whole genome data in trios in our Mendelian Genomics group LIIGH 🎉

Not different colors, but wearing my DNA socks today to join the #LotsOfSocks #DownSyndrome Day #WorldDownSyndromeDay to raise awareness and educate about #DownSyndrome and #EndTheStereotypes for greater #Inclusion of diverse people 🧦🩵🧬 #RareDiseases #LowPrevalenceDiseases

Excited for the preprint on the first 100 whole genomes from the 1000 Genomes ONT Sequencing Consortium assessing the wide spectrum of human variation across ancestries! - Students interested in analyzing these WGS data come join the lab LIIGH!!
medrxiv.org/content/10.110…

We are honored to have worked with other journal editors to provide guidance on the use of population descriptors in #Genetics and #Genomics research
bit.ly/3TzaUi4

A sólo 10 días de la III Jornada Internacional de Enfermedades Raras o Poco Frecuentes ¡aún quedan cupos!
Clínica Alemana Instituto de Ciencias e Innovación en Medicina Claudia Gonzaga-Jauregui Cecilia Poli Cecilia Rodríguez Epidemiología y Políticas de Salud @PROESSA_UDD Ministerio de Ciencia Ministerio de Salud Boris Rebolledo-Jaramillo Víctor Faúndes Eduardo Pérez Palma Sociedad de Genética de Chile Sociedad Chilena de Pediatría

'First, we want to encourage a more diverse pool of corresponding authors to submit.' - Well for starters the APC fees to submit to Nature are not affordable for many investigators and also women and minorities tend to be funded less than males, so... 🤷🏽‍♀️
nature.com/articles/d4158…

Researchers submitting original research to Nature over the past year will have noticed an extra question, asking them to self-report their gender

Nature publishes too few papers from women researchers — that must change
#InternationalWomensDay #IWD2024 go.nature.com/48QpdDs