@emilydebortoli.bsky.social
PhD candidate & research genetic counsellor🧬 (she/her)
@IGM_group
@IGM_group
Thanks for sharing our article! We are happy to see this paper published and parents' voices captured
August 8, 2025 at 4:39 AM
Thanks for sharing our article! We are happy to see this paper published and parents' voices captured
Great read! Fantastic to see the value of collaborative partnerships between genetic counsellors and other specialists being highlighted
June 24, 2025 at 10:06 PM
Great read! Fantastic to see the value of collaborative partnerships between genetic counsellors and other specialists being highlighted
Reposted
@emilydebortoli.bsky.social An interesting article on genetic counselling in kidney disease. It’s great to see growing recognition of the GC role across healthcare!
It echoes our recent work on GCs in inborn errors of immunity:
🔗 www.jaci-inpractice.org/article/S221...
It echoes our recent work on GCs in inborn errors of immunity:
🔗 www.jaci-inpractice.org/article/S221...
Genetic Counseling in Pediatric Inborn Errors of Immunity: Perspective Piece on Current Practice and Considerations
Genomic testing is now an essential part of diagnosing and treating individuals with
inborn errors of immunity (IEI). With most IEI presenting in childhood, innovative
models of care are needed to ens...
www.jaci-inpractice.org
June 23, 2025 at 8:46 AM
@emilydebortoli.bsky.social An interesting article on genetic counselling in kidney disease. It’s great to see growing recognition of the GC role across healthcare!
It echoes our recent work on GCs in inborn errors of immunity:
🔗 www.jaci-inpractice.org/article/S221...
It echoes our recent work on GCs in inborn errors of immunity:
🔗 www.jaci-inpractice.org/article/S221...
Thanks so much!
June 23, 2025 at 2:47 AM
Thanks so much!
Reposted
A massive congratulations to @emilydebortoli.bsky.social presenting on parents’ experiences with paediatric inborn errors of immunity, highlighted the lasting distress, social isolation, satisfaction with mainstream genomic testing, and unmet needs that require further attention 🙌
May 27, 2025 at 12:22 PM
A massive congratulations to @emilydebortoli.bsky.social presenting on parents’ experiences with paediatric inborn errors of immunity, highlighted the lasting distress, social isolation, satisfaction with mainstream genomic testing, and unmet needs that require further attention 🙌