https://www.ucl.ac.uk/medicine/research/genetics-and-genomics
👉 www.nature.com/articles/s41...
1,000 babies
WGS using existing cards
600+ conditions
13 day TAT
16 diagnoses (vs 1 in std NBS)
High clinical impact
High parental acceptability
Book 👉 ucl.ac.uk/short-course...
#Genomics #rarerenal #nephsky
www.theisn.org/in-action/gr...
www.theisn.org/in-action/gr...
https://pubmed.ncbi.nlm.nih.gov/40208688
https://pubmed.ncbi.nlm.nih.gov/40208688
doi.org/10.1016/j.kint.2025.01.014
#KIReview #OpenAccess #MedSky #NephSky #IgAN #IgAnephropathy
doi.org/10.1016/j.kint.2025.01.014
#KIReview #OpenAccess #MedSky #NephSky #IgAN #IgAnephropathy
👉 rdcu.be/eeuAN
Change is hard! Key for success: working across disciplines; jurisdictions; and all leadership levels🏆
@stephaniebest.bsky.social @iliasgoranitis.bsky.social @andrewmallett8.bsky.social
👉 rdcu.be/eeuAN
Change is hard! Key for success: working across disciplines; jurisdictions; and all leadership levels🏆
@stephaniebest.bsky.social @iliasgoranitis.bsky.social @andrewmallett8.bsky.social
buff.ly/qk4LG8w
Teams:
- MCD Diagnosis and Pathogenesis
- MCD Relapse
Expert: Susan Samuel
Writers: Mallory Downie & Robert Myette
Execs: Ana Catalina Alvarez-Elías & @nephrosparks.bsky.social
buff.ly/qk4LG8w
Teams:
- MCD Diagnosis and Pathogenesis
- MCD Relapse
Expert: Susan Samuel
Writers: Mallory Downie & Robert Myette
Execs: Ana Catalina Alvarez-Elías & @nephrosparks.bsky.social
Watch the video to learn all about The Alport Research Hub
@rachellennon.bsky.social
@kidneyresearchuk.org
Watch the video to learn all about The Alport Research Hub
@rachellennon.bsky.social
@kidneyresearchuk.org
: Kidney Multiome-Based Genetic Scorecard Reveals Convergent Coding and Regulatory Variants.
@Hongbo919Liu science.org/doi/10.1126/...
: Kidney Multiome-Based Genetic Scorecard Reveals Convergent Coding and Regulatory Variants.
@Hongbo919Liu science.org/doi/10.1126/...
tl;dr The spectrum of kidney disease in those with COL4A5 variants is broad and under diagnosed. journals.lww.com/jasn/abstrac...
tl;dr The spectrum of kidney disease in those with COL4A5 variants is broad and under diagnosed. journals.lww.com/jasn/abstrac...
On #kidneycompass, Laura Mariani shares how remarkable progress can be possible in a short time when groups work together towards a common goal #FSGS
www.hcplive.com/view/kidney-...
On #kidneycompass, Laura Mariani shares how remarkable progress can be possible in a short time when groups work together towards a common goal #FSGS
www.hcplive.com/view/kidney-...
www.thelancet.com/journals/ebi...
www.thelancet.com/journals/ebi...
Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...
Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...