ALS Consortium

Group photo of the attendees of the ALS Consortium Meeting held in summer 2018.

​Our ALS Consortium – a partnership of clinicians, basic scientists, geneticists, and computational biologists from 38 institutions across the globe – establishes a framework to apply whole genome sequencing (WGS) and functional genomics to the study of ALS. Because ALS-causing mutations tend to be of moderate impact and are relatively rare in the population (reviewed in Al-Chalabi et al. 2017), identification of new mutations requires several thousand samples, which need to be obtained from multiple sites (even the busiest ALS clinics see only 200-400 patients per year). To enable broad data sharing, we centralize the administration of a widespread, highly federated program. We developed and disseminate key elements for Informed Consent Forms and IRB protocols, disseminate common data elements to harmonize clinical phenotyping across all participating centers, and centralize administration and operations to ensure smooth coordination between sites. Currently, the ALS consortium has sequenced 3,637 whole genomes and 1,938 RNA samples. Data are shared both within our consortium and with other consortia, and novel analytical tools are applied to mine these data for ALS-associated mutations. These efforts have already led to the identification of novel ALS-associated mutations such as in KIF5A (Nicolas et al. (2018).

Broadly stated, the goals of this consortium are the following:

  • Integrate whole genome sequencing with RNA sequencing to interrogate relationships between mutations, gene expression and disease mechanisms
  • Integrate genomic data with histopathology and clinical data on postmortem tissue to study molecular mechanisms of disease spread
  • Use our partners’ clinical phenotyping efforts to sequence well-stratified patient cohorts, to eventually identify mutations that are associated with different forms of the disease, or gene variants that can modify the presentation of the disease and could be further studied to identify pathways for the targeted development of therapies
  • Create and maintain a data warehouse for genomic data that can be broadly accessed by the academic community

Contact Us: cgnd_help@nygenome.org

ALS CONSORTIUM COORDINATION

We developed and disseminate key elements for Informed Consent Forms and IRB protocols, provide common data elements to harmonize clinical phenotyping across all participating centers, in order to centralize administration and operations to ensure smooth coordination between sites. Data are shared both within our consortium and with other consortia, and novel analytical tools are applied to mine these data for ALS-associated mutations.

Such broad sharing and collaborative efforts are ultimately geared towards making the best use of sequencing data. Comparing clinical profiles to genomic profiles can enable us to determine whether specific mutations are associated with specific clinical outcomes – this may ultimately make truly “personalized” medicine possible.

ALS Consortium Members (as of 12.04.2020)
1. Academic Medical Center, Amsterdam
2. Atlantic Health System
3. Barrow Neurological Institute
4. Brigham and Women’s Hospital
5. Broad Institute
6. Cedars-Sinai Medical Center
7. Columbia University
8. Cold Spring Harbor Laboratory
9. Georgetown University
10. Gladstone Institute
11. Hadassah Hebrew University
12. Henry Ford Health System
13. Hospital for Special Surgery
14. Icahn School of Medicine at Mount Sinai
15. The Jackson Lab
16. Johns Hopkins University
17. Korea Advanced Institute of Science and Technology
18. Massachusetts General Hospital
19. Massachusetts Institute of Technology
20. National Institutes of Health’s National Institute of Neurological Disorders and Stroke
21. New York Genome Center
22. Northwell Health
23. The Pennsylvania State University
24. Stony Brook University
25. Tel Aviv Sourasky Medical Center
26. Temple University
27. The Translational Genomics Research Institute (TGen)
28. University College London/ Queen Mary University of London
29. University of Athens
30. University of California at Irvine
31. University of California at San Diego
32. University of California at San Francisco
33. University of Edinburgh
34. University of Maryland, Baltimore
35. University of Pennsylvania
36. University of Thessaly
37. Washington University in St. Louis
38. Weizmann Institute of Science