Jordi Pijuan
@jordipijuan.bsky.social
Biologist, PhD 🧬 Researcher at CIBERER and Sant Joan de Déu Research Institute | Focused on research in rare diseases | Interested in science, nature and sport
Reposted by Jordi Pijuan
New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬
A big step for precision medicine!
www.nature.com/articles/s41...
A big step for precision medicine!
www.nature.com/articles/s41...
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database - Nature Communications
Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD),…
www.nature.com
November 4, 2025 at 3:06 PM
New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬
A big step for precision medicine!
www.nature.com/articles/s41...
A big step for precision medicine!
www.nature.com/articles/s41...
🚨Thrilled to share our latest paper:
🧬New evidence for Menkes disease: Elesclomol-copper (ES-Cu) therapy improved neurodevelopment in 2 children diagnosed shortly after birth
💊Promising step for this otherwise fatal disorder
🧬New evidence for Menkes disease: Elesclomol-copper (ES-Cu) therapy improved neurodevelopment in 2 children diagnosed shortly after birth
💊Promising step for this otherwise fatal disorder
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease
In this research letter, Palau & team present clinical & therapeutic responses to ES-Cu in 2 children who had been diagnosed with the fatal disease in first days of life.
www.jci.org/articles/vie...
In this research letter, Palau & team present clinical & therapeutic responses to ES-Cu in 2 children who had been diagnosed with the fatal disease in first days of life.
www.jci.org/articles/vie...
November 1, 2025 at 8:51 AM
🚨Thrilled to share our latest paper:
🧬New evidence for Menkes disease: Elesclomol-copper (ES-Cu) therapy improved neurodevelopment in 2 children diagnosed shortly after birth
💊Promising step for this otherwise fatal disorder
🧬New evidence for Menkes disease: Elesclomol-copper (ES-Cu) therapy improved neurodevelopment in 2 children diagnosed shortly after birth
💊Promising step for this otherwise fatal disorder
What an incredible experience at #eshg2025! An inspiring space to grow, exchange ideas, and connect with the global genetics community 🧬 Truly honoured to hear the powerful words of Nobel laureate @kkariko.bsky.social
May 31, 2025 at 8:34 AM
What an incredible experience at #eshg2025! An inspiring space to grow, exchange ideas, and connect with the global genetics community 🧬 Truly honoured to hear the powerful words of Nobel laureate @kkariko.bsky.social