Honoring Stephen Hawking, Answer ALS Opens Data Portal to Scientists

To mark what would have been the 79th birthday of the theoretical physicist Stephen Hawking, who lived with amyotrophic lateral sclerosis (ALS) for 55 years, Answer ALS is providing researchers with free access to the world’s largest ALS data portal.

To help spread the word, the organization — in cooperation with the Stephen Hawking Foundation — opened “The Data is Here” campaign on Jan. 8, Hawking’s birth date. The portal seeks to equip scientists with data necessary to better understand and treat the progressive neurological disease that affects about one in 50,000 individuals annually worldwide.

The recently developed and expanded data portal supports easier access to this resource, which Answer ALS reports to be the most comprehensive clinical, genetic, molecular, and biochemical assessment of ALS in history.  Data to date were collected from about 1,200 ALS patients and control (non-ALS) participants.

Ed Rapp, a study participant and Answer ALS advisory board chair, believes that any one ALS breakthrough as a result of these data will likely lead to others.

“Any great breakthrough is like a game of dominoes. You have to get the first domino to fall and once you do, it leads you down a path to success,” he said in a press release.

“Tipping the first domino was deploying exponential computing capabilities that allow large data storage, genetic sequencing in an hour, and deeper machine learning into the disease. That effort will then facilitate all other dominoes by the discovery of ALS subgroups and ultimately treatments or a cure,” Rapp added.

Through the use of artificial intelligence and machine learning, these data are also expected to serve as the foundation for future clinical trials, identifying study participants, and the search for biomarkers and new diagnostic tools.

“This biological and clinical data creates a foundation for scientists, companies, and labs around the world to tackle the challenge of understanding ALS subgroups, real human-relevant pathways and the tools to find individuals’ disease-specific drugs,” said Jeffrey Rothstein, MD, PhD, director of Answer ALS research.

“This game-changing data portal will host more data than there are stars in the visible sky. We believe this would have resonated with professor Hawking,” Rothstein said.

More data will be added to the portal as they becomes available, including proteomics (the study of proteins) produced from the stem cell-derived motor neurons of study participants. Data downloads are sponsored by a grant from the Microsoft AI for Accessibility program.

The Answer ALS research program is led by the Robert Packard Center for ALS Research at Johns Hopkins University. Its research consortium is comprised of clinics and laboratories at Massachusetts General Hospital, Cedars-Sinai, Emory University, Northwestern University, Ohio State University, Washington University, Texas Neurology, Massachusetts Institute of Technology, the Gladstone Institutes, and the New York Genome Center.

Hawking, who was born on Jan. 8, 1942, and died on March 14, 2018, was diagnosed with ALS at age 21. The campaign features a video tribute to Hawking, who spent his adult life trying to solve complex universal questions. Within the scientific community, he is best-known for his work in further defining black holes, and within the general public for his best-selling 1988 book, “A Brief History of Time.”

“At 21, Stephen Hawking was diagnosed with ALS,” the campaign stated in the release. “In ‘21, we aim to make a breakthrough in his honor. The data is here.”