Challenge-3-LA-Team-B

Neurone Genetic Variant (NGV) Hunters

Challenge 3 - Exploring genetic variation in motor neurone disease longevity to inform drug discovery

Recent genome-wide association study findings highlight the genetic component of motor neurone disease. Fifteen risk loci with distinct genetic architectures and neuron-specific biology provide vital clues to inform future drug discovery. This challenge will explore potential mechanisms and drug targets linked to these new findings.

Main Purpose

The NGV hunters recognize the genetic complexity of Motor Neuron Disease and the multimodality of translating insight from motor neuron disease to effective drugs both for the (1) prevention of disease and for the (2) treatment of disease.

Main Aims

Aim 1: Exploring Genetic Variation

Docker images used

• VEP
• BCFtools

Aim 2: Mendelian Randomization for Drug Target Discovery

Aim 2 Workflow

SNP effects on the exposure against the SNP effects on the outcome using scatter plots

Funnel Plots

Aim 3: Drug Discovery Based on Genetic Targets

Aim 3 Workflow

Additional analysis

Pathway analysis

https://neurohack-2022.slack.com/files/U02SUBEQNV6/F02U6CU0T1A/omicsnet_-_google_chrome_2022-01-14_11-52-09.mp4

Transmembrane regions in ALS associated genes