Joaquin Castilla

Key facts

• Ikerbasque Research Professor and prion lab leader at CIC bioGUNE; CJD Foundation grants for dominant-negative gene therapy; reported a homozygous R136S PRNP mutation causing inherited early-onset prion disease.
• 2024 grants: Kong (NPDPSC) ADAM8-based gene therapy; Schmitz (Goettingen) tear fluid diagnostic; Schmitt-Ulms (Toronto) small brain-penetrant molecule that reduces PrPC and mouse models of spontaneous prion emergence; Castilla (CIC bioGUNE) dominant-negative protein-based gene therapy; Aguzzi and Caredio (Zurich) GPNMB as therapeutic target; organoids from sporadic CJD donors (RML postdoc).
• 2025 grants include Block (Colorado State) PrP seeding in non-prion dementia; Castilla (CIC bioGUNE); Schmitt-Ulms (Toronto) PrP seeding in AD and CTE; MRC Prion Unit on cancer risk from reduced PrPC expression; copy number variants as phenotype modifier (NPDPSC); Public Health Agency of Canada and University of Manitoba; Llorens and Zerr (CIBERNED and DZNE).
• Leads the Prion Research Lab at CIC bioGUNE since 2009 as Ikerbasque Research Professor, with more than 20 collaborations.
• The foundation page describes him as President of the Spanish Foundation for Prion Diseases.
• His 2024 grant report reports mouse survival extensions of 35 to over 100 percent with candidate dominant-negative PrP variants in two prion models.
• A first-year report recorded toxicity at unexpectedly high expression, handled by dose studies and promoter changes.
• A February 2026 preprint co-authored with the Boston University group reports G127V PrP blocking prion infection in cells; a Brain Pathology paper on AAV-delivered PrP variants in knockout mice is listed on his profile.

Timeline

1. 2009Prion Research Lab founded.
2. 2024CJD Foundation grant awarded.
3. 2025Final grant report.
4. 2026G127V preprint posted.