Neurometabolic diseases

Summary

Our mission is to improve disease management of rare brain disorders through precision medicine. This spans the whole spectrum from genomic diagnosis to disease-modifying treatments. A first research line revolves around adrenoleukodystrophy (ALD), made popular by the movie "Lorenzo's Oil". We are integrating multiomic approaches to gain insights into pathomechanisms and for drug target identification. These involve redox and metabolic homeostasis, mitochondria dynamics, proteostasis and cellular stress responses. Tailored preclinical tests have yielded four licensed patents, three phase II/III clinical trials, and two Orphan Drug Designations. A second research line applies clinical and functional genomics for genomic diagnostics and novel gene discovery for brain white matter disorders. Through massive sequencing (WES and WGS), we are identifying novel disease-causing genes and modeling disease using iPS-derived brain organoid cultures and zebrafish. Results are advancing scientific knowledge while serving the undiagnosed patient's community.

112

Publications

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Pujol Onofre, Aurora

Pujol Onofre, Aurora

Principal investigators

Team

Group Leaders
  • Pujol Onofre, Aurora
Principal Investigators
Postdoctoral researchers (R2)
Predoctoral researchers (R1)
Scientific support
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