“Functional analysis of novel genes causing brain white matter disorders or leukodystrophies”.
Objectives: In vitro and in vivo validation of novel genes or variants found in clinical genomics analysis, followed by disease modeling.
We have applied clinical whole exome and genome analysis to a cohort of 250 patients affected with brain white matter diseases. A roughly 10% of these cases carry putative mutations in genes not formerly associated to disease. Our main interest lies on genes involved in brain redox and energy metabolism, lipid signaling, proteostasis and neuroinflammatory routes. Our laboratory aims at functionally validating these novel variants through molecular genetics, biochemical and cell biology approaches in patient derived iPS, iPS-derived neural and organoid cultures and zebrafish or c. elegans.
These models will allow (i) the confirmation of the pathogenicity of the identified genome variations, (ii) the characterization of the pathophysiological pathway involved and (iii) the development of therapeutic strategies. Brain organoids, Zebrafish and/or c. elegans models will provide a useful and cost-effective screening tool for the identification of novel pharmacological treatments geared to halt degeneration or demyelination, and also for carrying library screening of FDA-approved compounds.
If you wish to advance your career while improving patient’s lives, join our team!
Meet us here: https://www.jci.org/articles/view/123959
- Doctoral Degree
- Standard European Fellowships (ST): must not have spent or carried out the main activity (work, studies, etc.) in Spain for more than 12 months between 11th September 2016 and 11th September 2019.
- Career Restart Panel (CAR) or Reintegration Panel (RI): must not have spent or carried out the main activity (work, studies, etc.) in Spain for more than 36 months between 11th September 2014 and 11th September 2019.
- Global Fellowship (GF): Open to Experienced Researchers (ER) nationals or long-term residents of MS / AC (period of full-time research activity in MS/AC of at least 5 consecutive years) who has not resided or carried out his/her main activity (work, studies, etc.) in the Third Country (TC) for more than 12 months between 11th September 2016 and 11th September 2019.
- Fluent English language (written and spoken)
- Molecular and cellular Biology, functional genomics.
- Generation of iPS, iPS- derived neural cell types, brain organoids and/or zebrafish- C-Elegans will be highly valued.
Highly motivated candidates, please, send complete CV, cover letter and two reference contacts, before June 30th 2019.