Juan Darío Ortigoza Escobar
Investigador
Research group
Last Publications
- Awamleh, Z, Chen, A, Choufani, S, Rots, D, Ko, JM, Armour, CM, Nowaczyk, MJM, Hurst, ACE, Gibson, WT, Misceo, D, Frengen, E, Stromme, P, Soliani, L, McNiven, V, Alkhunaizi, E, Invernizzi, F, Fernandes, S, Sousa, S, Amoros, I, Scherer, SW, Kwint, M, Bienvenu, T, Garavaglia, BM, Ortigoza-Escobar JD and Weksberg, R KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders GENETICS IN MEDICINE . 28(10): .
- Chen A, Jain M, Baribeau D, Gibson WT, Deardorff MA, Alkuraya FS, Ortigoza-Escobar JD, Nimmo G, Scherer SW, Choufani S, Goodman SJ and Weksberg R Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation EUROPEAN JOURNAL OF HUMAN GENETICS . : .
- Bernardi K, Rong J, Northam WT, Kaminska M, Hasegawa H, Domínguez-Carral J, Vogt LM, Dijk JM, Beudel M, Chauvet-Piat E, Seng EC, Poulen G, Mahant N, Garone G, Pauni M, Rodríguez J, Munoz-Chesta D, Jones HF, De la Casa-Fages B, Miranda-Herrero MC, Jennions E, Lim WK, Zea Vera A, Mohammad S, Schuurman R, van de Pol LA, Roubertie A, Ibrahim GM, Gorodetsky C, Thiel M, Koy A, Ortigoza-Escobar JD, Lin JP, Lumsden DE, Ebrahimi-Fakhari D and Yang K Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International Multicenter Experience ANNALS OF NEUROLOGY . : .
Projects
- Project name:
- GNAO1-EU: European Natural History Study and search for novel biomarkers in GNAO1-associated disorders
- Leader
- Juan Darío Ortigoza Escobar
- Funding entities:
- Asociación GNAO1 España
- Code
- PFNR0235
- Starting - finishing date:
- 2026 - 2027
- Project name:
- Proyecto de Investigación Diagnóstico: Volumetría cerebral longitudinal en trastornos relacionados con GNA01: correlaciones con fenotipos clínicos.
- Leader
- Juan Darío Ortigoza Escobar
- Funding entities:
- Federación Española de Enfermedades Raras
- Code
- AI-2024-036-IX CAI FF
- Starting - finishing date:
- 2025 - 2026
- Project name:
- Comprehensive analysis of clinical and transcriptomic data (liquid biopsy) to identify biomarkers in patients with GNAO1-related disorders
- Leader
- Juan Darío Ortigoza Escobar
- Funding entities:
- Famiglie GNAO1
- Code
- PFE00142
- Starting - finishing date:
- 2024 - 2025
News
-
An international study led by Sant Joan de Déu confirms that GNAO1-RD disease is not degenerative
The study describes for the first time the long-term evolution of disorders related to the GNAO1 gene.
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An international study improves clinical prediction in genetic disorders related to NKX2-1
NKX2-1-related disorders are genetic diseases caused by alterations in the NKX2-1 gene. This gene is essential for the development of the brain, lungs, and thyroid gland.
