Kleefstra and Kleefstra-like syndromes in the Spanish Undiagnosed Rare Diseases Program

Published on Jun 14, 202331 Views

Kleefstra Syndrome Scientific Conference 2023: “Moving towards the uptake and use of Artificial Intelligence (AI) in research and clinical work”, Ljubljana 2023

Kleefstra and Kleefstra-like syndromes in the Spanish Undiagnosed Rare Diseases Program00:00

Spanish Undiagnosed Rare Diseases Program SpainUDP - 100:19

Spanish Undiagnosed Rare Diseases Program SpainUDP - 201:31

Kleefstra-like case02:35

EHMT2 p.Ala1077Ser04:12

RNA-seq reveals no changes in expressionin patients’ blood05:15

ND095 (EHMT2 p.A1077S)06:43

Reprogramming of patients’ fibroblasts to pluripotency08:09

Characterization of ipsclines10:24

Obtaining virus free ipscs11:06

ipscslines express pluripotency factors11:49

Generation of brain cortical organoids12:15

Characterization of brain organoids13:27

Future plans15:09

Thank you15:41