Next Generation Sequencing in ALS

Principal Investigator: Hemali Phatnani, PhD

Disease: ALS

Project Duration: 3 years

Primary Aim(s):

  • Aim 1: Whole genome sequencing on Trios and ALS families to identify new ALS genes;
  • Aim 2: Whole genome sequencing and RNA sequencing on post-mortem tissue to
  • understand how ALS-causing mutations affect gene expression;
  • Aim 3: Identifying genetic modifiers of C9orf72 G4C2 expansion; and
  • Aim 4: Data warehousing and integration (“NYGC ALS Database”)

How CIB accelerates this project:

CIB operates as the data coordination core.
Platforms used: NeuroBANK™, NeuroGUID