Roberto Montoro Ferrer
Contact info
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Address
Vrije Universiteit Amsterdam
Center for Neurogenomics and Cognitive Research (CNCR)
Department of Complex Trait Genetics
Research Building
De Boelelaan 1100
1081 HZ Amsterdam
The Netherlands -
E-mail
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Phone
Short CV
| 2019-present | PhD candidate | Amsterdam UMC |
| 2017-2019 | Master of Science in Neuroscience | Erasmus University Rotterdam |
| 2014-2017 | Biotechnology degree | Universidad Católica de Valencia |
Research
Adrenoleukodystrophy (ALD) is the most common peroxisomal disorder distinguished by a spectrum of progressive neurodegenerative outcomes affecting the white matter. ALD is characterized by deficiencies in ABCD1, which result in accumulation of very long-chain fatty acids (VLCFAs) in tissues and plasma and impairment of peroxisomal VLCFA -oxidation. The role of VLCFAs in the pathogenesis of ALD and how its accumulation eventually leads to the loss of myelin in patients remains unknown. Animal models do not fully recapitulate the disease pathophysiology. Therefore, the aim of my PhD project is to generate an in vitro organoid model of ALD using iPSCs derived from ALD patients to decipher its underlying neuropathogenesis.