Atlanta lab plays critical role in ALS gene discovery

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By: WSB Community

ATLANTA – Scientists have identified a gene contributing to Amyotrophic Lateral Sclerosis, or ALS, in roughly three percent of patients.

According to researchers, people are more likely to get ALS if they have an abnormality in this gene, identified as NEK1.

Confirmation for the discovery came from Project MinE, a venture aimed at mapping the DNA profiles of 15,000 ALS patients world-wide. Project MinE is an international collaboration involving 15 countries.

“This new gene will allows us to investigate the biology behind this gene,” Dr. Jonathan Glass, director of the Emory ALS Center said. “This is a baby step forward, and lots of baby steps create a giant leap.”

ALS is a progressive disease that affects nerve cells in both the brain and spinal cord. As the disease advances, people lose their muscle movement, leading to paralysis and death.

Project MinE’s United States DNA collection site in Atlanta received 1 million dollars from the ALS Association following the 2014 Ice Bucket Challenge. According to Dr. Glass, 5,000 human genomes have been sequenced, but researchers are awaiting more funding to continue. The cost is $2,000 per genome.

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Georgia ALS Patient Becky Kidd donated her DNA to the research project in 2015. It has now been four and a half years since her diagnosis. While her disease is slow in progressing, Kidd understands she likely will not benefit from the cure she hopes the research will bring.

“When you’re living with a disease that’s terminal, then you find your mission,” Kidd said. “I don’t know if there are going to be answers in time for me. I hope, but I don’t know, but I am absolutely committed to helping these people find the answers I can for the people behind us.”

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This month, The ALS Association is continuing to raise awareness and funding for patient support and a cure.