ALS

Rare Genetic Mutation Links Two Neurological Diseases

Globe-Spanning Collaboration Connected ‘Viking Gene’ to Dementia and ALS

A man with ALS uses a head-mounted laser pointer to communicate with his wife by pointing to letters and words on a communication board

June was an important month in the life of baseball great Lou Gehrig. It was the month he was born and the month he was first picked for the Yankees’ starting lineup. Sadly, it was also the month in 1939 when he was diagnosed with the neurological disease that bears his name — Lou Gehrig’s disease, also known as amyotrophic lateral sclerosis (ALS) — and the month he died of that disease two years later. It is appropriate then that ALS Awareness Day is observed on June 21 as a day of hope for those searching for effective treatments and, ultimately, a cure.

IRP senior investigator Bryan J. Traynor, M.D., Ph.D., a neurologist at the National Institute on Aging (NIA), is one of the people leading that search. Best known for his work unraveling the genetic causes of ALS and frontotemporal dementia (FTD), he led an international consortium of researchers that uncovered a mutation on chromosome 9 that is the most common ‘familial’ cause of both ALS and FTD. In fact, this mutation, which disrupts the function of the C90RF72 gene, is responsible for 40 percent of all familial cases of ALS and FTD in European and North American populations, meaning cases in which a family member also has the disease. The discovery, published in 2011, revolutionized the scientific understanding of neurodegenerative diseases and the relationships between them. It also suggested a potential target for future gene therapies.

IRP Grad Students Present a Scientific Smorgasbord

Virtual Symposium Showcases Scientists-in-Training

IRP graduate students Khalin Nisbett, Julia Gross, Luis Rivera García, and Temesgen Andargie

Even in the midst of a global pandemic, life at NIH goes on. IRP researchers continue to run experiments, publish scientific papers, and train the next generation of scientists, including the many graduate students performing research in IRP labs through the Graduate Partnership Program. On February 17 and 18, more than 100 of these scientists-in-training presented their work virtually at the NIH’s 17th annual Graduate Student Research Symposium. Like last year’s entirely online Postbac Poster Day, the event overcame the constraints of COVID-19 precautions to showcase a broad range of research, including several studies focused on the novel coronavirus.

Reining in Runaway Enzyme Halts Neuronal Destruction

Mouse Study Supports Potential Treatment Approach for Numerous Neurological Diseases

mouse spinal cord neurons

Winter is fast approaching, bringing with it both picturesque snow flurries and raging blizzards. It's a good reminder that something that is desirable in moderate amounts can be downright dangerous in large quantities, and the systems that keep our cells healthy are no different. IRP researchers recently found a novel way to tamp down a runaway cellular process that can kill neurons, findings that may one day lead to new treatments for several debilitating neurological conditions.

Plugging the Gaps in the Human Genome

Supercomputing Helps IRP Researchers Complete Our Genetic Blueprints

DNA sequence

While the Human Genome Project accomplished a remarkable feat in sequencing all the genes in the human genome, technological limitations still left significant swaths of our genetic blueprints unexplored. Recent advances in DNA sequencing are starting to fill in those gaps, but these new technologies require new computational tools to make sense of the data they generate. That’s where computer scientists like the IRP’s Adam Phillippy, Ph.D., come in.

Summertime Brains: Jason Mazique

Jason Mazique, who is currently a freshman at Williams College in Williamstown, Massachusetts, spent his 2017 summer working in the lab of NIH IRP Senior Investigator Dr. Harish Pant. During his time at the NIH, Mazique investigated how a particular protein affects neurons in the brain, with implications for neurological conditions like ALS and Alzheimer’s disease

John and ALS: Participating in an NIH Clinical Study

“I kind of made it a mission of mine to find out as much as I can, what’s available out there as treatments, trials,” John says, “and just my way of giving back, whether it helps me directly or somebody who comes after me.”