Jeffrey Sagun
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jeffsagun.bsky.social
Jeffrey Sagun
@jeffsagun.bsky.social
Stanford REACH Research Scholar • Former NIH Postbac CRTA Fellow • Chicagoan • #Derm, #Genetics, #SkinCancer, and #RareDiseases

https://www.researchgate.net/profile/Jeffrey-Sagun
https://www.linkedin.com/in/jeffreysagun
Proud to share my first-ever research publication as co-lead author in @plos.org Genetics!

We report 18 XP-A patients examined between 1973 and 2023 under an IRB approved #NIH natural history study.

🔗 journals.plos.org/plosgenetics...

#DermSky #MedSky #RareDisease #Genetics #Dermatology
Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients
Author summary Xeroderma pigmentosum, (XP), is a rare autosomal recessive inherited disease. Exposure to ultraviolet radiation greatly increases the risk of developing skin cancers and premature aging...
journals.plos.org
January 10, 2025 at 2:31 PM