Description de la soumission d'un avis
Mutations in the KCNQ2 gene can lead to two different conditions: KCNQ2-DEE, a severe and intractable form of developmental and epileptic encephalopathy, and BFNS, a benign familial form of neonatal seizures. BFNS mutations result in haploinsufficiency, leaving 50% of normal Kcnq2 protein intact, while KCNQ2-DEE mutations are dominant negative, causing a dysfunctional protein that significantly impairs its function.
Our project aims to assess the feasibility and the relevance of a new therapeutic approach based on allele-specific lipid-conjugated antisense oligonucleotides (AS-LASO) to silence the dominant negative KCNQ2 mutant allele in KCNQ2-DEE patients and convert this severe form of the disease into a milder BFNS one.
Master degree in neuroscience or genetics with authorization to work with laboratory animals (mouse).
Desired profileWe are looking for an enthusiastic new collaborator with a neurosciences or molecular/human genetics background.
He/she must be interested in epilepsy, genetic diseases and pre-clinical research, and keen to interact with the other members of the team to perform collaborative work.
Knowledge in neurosciences, genetics and animal models.
Authorization to work with laboratory animals (mouse).