LE STUDIUM Loire Valley Institute for Advanced Studies

Dravet syndrome is an intractable developmental and epileptic encephalopathy caused largely by de novo variants in SCN1A resulting in haploinsufficiency of the voltage-gated sodium channel α subunit

Antisense oligonucleotides (ASOs) have proven to be an effective therapeutic platform for the treatment of disease.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of unknown origin that causes progressive muscle paralysis and motor neuron death.

Neurons are cells with a complex morphology, which maintain their cellular structure through the compartmentalized expression of proteins essential for growth and plasticity.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the progressive loss of motor neurons, leading to paralysis and death of patients after 3-5 years of symptoms’ onset

The need for high quality mRNA for therapeutic applications has grown substantially over the last few years due to the efficacy of the COVID mRNA vaccines.

Messenger RNA (mRNA) therapeutics are attracting much attention, particularly after the approval of two mRNA vaccine formulations for COVID-19.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an incurable neurodegenerative disorder caused by expansion of CGG repeats in the FMR1 5'UTR.

All macromolecular therapeutics, including ASOs, siRNAs, peptides, proteins, CRISPR, mRNA and non-viral DNA vectors, are taken up into cells by endocytosis. 

Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication in chromosome 17, results in peripheral myelin protein 22 (Pmp22) over-expression and axon demyelination.

Mutations in many genes encoding RNA-binding proteins (RBPs) cause neurologic diseases, and especially the amyotrophic lateral sclerosis (ALS).