The published, peer-reviewed papers Dr. Noraldin Al-Deri has co-authored in international journals, together with his graduate thesis.
Dr. Al-Deri's published work focuses on the genetic and cellular basis of neurodevelopmental disorders — specifically variants in the TRAPP complex, which controls vesicle trafficking inside the cell. The studies were carried out in Prof. Michael Sacher's laboratory at Concordia University in Montréal, in collaboration with research groups in Canada, the USA, Europe, Australia and Türkiye.
This background in genetics and molecular biology is what shaped EICADD's approach: look for the cause, not just the symptoms.
Two unrelated families carrying a homozygous TRAPPC2L variant (p.Asp37Tyr) presented with neurodevelopmental delay, febrile-illness-induced encephalopathy and rhabdomyolysis. The variant abolished the TRAPPC2L–TRAPPC10 interaction, delayed membrane trafficking and increased active RAB11 in fibroblasts from affected individuals.
Seven individuals from three families shared a homozygous TRAPPC4 splice-site variant causing early-onset seizures, microcephaly, progressive brain atrophy and severe syndromic intellectual disability. Cells from affected individuals showed impaired TRAPP complex assembly, delayed vesicular trafficking and disrupted autophagy.
Dr. Al-Deri's first-author paper: three siblings carrying a novel homozygous TRAPPC2L variant (p.Ala2Gly) that weakens its interaction with TRAPPC6a and destabilises TRAPP complex assembly, causing Golgi trafficking delays and elevated active RAB11, mirroring the earlier p.Asp37Tyr variant.
Cellular characterisation of the p.Asp37Tyr and p.Ala2Gly TRAPPC2L variants using co-immunoprecipitation, size-exclusion chromatography and trafficking assays, demonstrating disrupted TRAPP assembly and ER-to-Golgi and post-Golgi trafficking delays.
This list covers publications indexed in PubMed, Crossref and OpenAlex as of September 2026. Links open the publisher's site or the university repository.
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