Very excited to attend & give a keynote talk on #RareDisease Genomics in Latin America & the need for Global #GenomicEquity at the International Congress of Human Genetics #ICHG2023 in Cape Town! Looking forward to an interesting meeting with an emphasis on diversity! 🌍🧬

Incidentally, in our latest article in #FrontiersInGenetics we discuss the "Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America" including the opportunity to implement #GenomicSequencing as an add-on to current NBS programs to provide accurate diagnoses for patients living with #RareDiseases in #LATAM #GenomicEquity

https://www.frontiersin.org/articles/10.3389/fgene.2022.1053559/full

The future of #NewbornScreening (NBS) is #GenomicSequencing for the early and accurate diagnosis of hundreds of #RareDiseases that if treated early can prevent early mortality & disability.

While the UK will be launching the Newborn Genomes Programme next year, many other countries around the world screen for just a handful of conditions and some others don't even have NBS programs in place. #GenomicEquity

https://www.bbc.com/news/health-63906892

New here, trying to figure out how this works! Geneticist/Genomicist Assistant Professor working on #Genomics of #RareDiseases and implementation of #precisionmedicine in #LATAM and #LMICs to achieve #GenomicEquity

If you're in science, genomics, or similar and see me wandering around here, say hi so that I can follow you and kick off the slow process of rebuilding a network. Looking forward to meeting old and new tweeps!