Gene-based therapies: overview and application to chromosome 15q

Precision therapeutics. Ongoing research in precision therapies in neurological disorders, including 15q-related disorders, is occurring in three spaces: 1) gene therapy, 2) anti-sense oligonucleotides (ASOs), and 3) small molecules (repurposing existing drugs or generating new drugs), where the latter is primarily focused on addressing the symptoms of genetic disorders (i.e. seizures) rather than the cause (i.e gene dysfunction). Each of these forms of therapy has particular challenges, including, critically, the delivery method. The blood-brain barrier (doing its job well) restricts the access of large or hydrophilic medications to the central nervous system (CNS), therefore scientists building these drugs must not only consider efficacy and safety of the drug itself, but also efficacy and safety of the delivery method to the CNS. Below we explore ASOs and gene therapies and their application in 15q-related disorders in more depth. We will not discuss small molecule therapies here as the topic is too broad in scope for the purposes of this post, and we would like to focus primarily on genetically-based therapies.

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Galanin mutations in Temporal Lobe Epilepsy

Transmitted. When we think about epilepsy-related neurotransmitters, we often limit ourselves to the most prominent transmitters in the Central Nervous System, namely glutamate, GABA and to some extent acetylcholine. However, besides these classical transmitters, there are more than 100 small peptides released in the mammalian brain, which are referred to neuropeptides. Here is the story of galanin, the first neuropeptide in epilepsy genetics. Continue reading

Papers of the week – GABRA1 and STXBP1 in Dravet, gene therapy & synonymous mutations in cancers

FASTA, FASTQ, SAM, BAM, BWA, GC, GATK, IGV. Phew. Day 2 at the EuroEPINOMICS bioinformatics workshop in Leuven. Usually my work starts after the initial NGS raw data quality control and mapping procedures. Today’s topics are supposed to improve my understanding of sequencing analysis and NGS data interpretation. While we are still struggling, other scientists have done their home work already. Here are some of the remarkable publications from this week.


Biologists, physicians and computer scientist at the EuroEPINOMICS bioinformatics workshop 2014 in Leuven

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