Neurodegenerative diseases pose some of the greatest challenges to medical science of our time, with decades of research yet to provide a clear path forward to a cure. By taking advantage of both state-of-the-art technology and the increased recognition of the value of collaboration in science, the NYGC seeks to change that in dramatic ways.
NYGC ALS Consortium
The Center for Genomics of Neurodegenerative Disease (CGND), led by the NYGC’s Hemali Phatnani, PhD, has established a global ALS Consortium, consisting of 29 member institutions in five countries. The CGND has also contributed to ALS research with the development of genomic technologies for the study of RNA transcription, single cell transcription, and spatial transcriptomics.
NYGC Neurodegenerative Disease Working Group
The NYGC is leveraging the success of the CGND extend our work across a range of neurodegenerative diseases that have pathways in common with ALS, including dementia, Alzheimer’s disease, frontotemporal dementia, Parkinson’s disease, and Huntington’s disease. The NYGC has created a new Neurodegenerative Disease Working Group, led by Alison Goate, DPhil, Icahn School of Medicine at Mount Sinai, Hemali Phatnani, PhD, NYGC, and Phil De Jager, PhD, MD, MMSc, Columbia University Irving Medical Center, with the objective of bringing together researchers from NYGC’s institutional founding members, NYGC faculty, senior faculty, NYGC technology development and computational scientists, and affiliate members. to discuss the underlying disease mechanisms in neurodegenerative disease.
Over 3,000 whole genomes of ALS patients sequenced and analyzed to date.
In 2018, the ALS Consortium contributed to the identification of a novel gene associated with ALS called KIF5A. Dr. Hemali Phatnani, PhD, Director of the CGND, was listed as a co-author, along with the Consortium, on the study of this discovery, which was published in Neuron.
In 2019, CGND researchers, working with global collaborators, utilized new technologies to create a multidimensional atlas of gene expression in ALS that provides new insights into the mechanisms that contribute to disease onset and progression. These breakthrough findings advance the understanding of disease mechanisms in all neurodegenerative diseases which share common pathways with ALS, including dementia, Alzheimer’s disease, frontotemporal dementia, Parkinson’s disease, and Huntington’s disease. The groundbreaking study was published in Science in April, and the atlas is now available to scientific community for further explorations via an interactive data portal. For links to the study, portal, and more, click here.