One of the many blessings of the Ice Bucket Challenge craze that swept the globe in 2014 was that it made people aware of ALS, a brutal disease that robs a person of his or her ability to walk, talk, and eventually, breathe. Prior to the Ice Bucket Challenge, most people only knew about ALS if a friend or family member had been diagnosed with it.
The great news is that those donations are already having an impact on the research. The ALS Association spent some of the Ice Bucket Challenge donations on Project MinE, which just announced on Monday that it had discovered a new ALS gene, one that is among the most common among people who have familial ALS.
While the Ice Bucket Challenge raised great awareness about ALS and the need for greater funding for research and care services, many people still don’t know what exactly ALS is or how it affects a person. Fortunately, former NFL player Steve Gleason has documented his journey and is sharing it in a new documentary that opens this weekend. The Daily Beast has called it “the most powerful, poignant documentary of the year.”
Over the last day, The ALS Association has received multiple questions surrounding the NEK1 gene discovery and how it affects people living with ALS. Below are some common questions and our answers, along with places to read more information.
Are NEK1 mutations associated with both familial (inherited) and sporadic (non-inherited) ALS?
Yes – NEK1 mutations are associated with both familial and sporadic ALS. Together, NEK1 is associated with 3% of all ALS cases.
How is the NEK1 gene inherited?
Currently, researchers do not know how the NEK1 gene is inherited, its penetrance (i.e. the proportion of individuals with the NEK1 mutation that show ALS symptoms) or whether the mutation is sufficient alone to cause disease. Researchers are now working diligently to answer these significant questions.
Most familial ALS genes are autosomal dominant for inheritance, meaning that the parent who has a genetic change (mutation) that causes ALS has a 50% chance of passing that mutation to each of his or her children. It is also important to understand that if a person inherits the genetic change, the person is not certain to develop ALS symptoms.
[UPDATED AUGUST 8, 2016]: On August 16, co-leader for the U.S. arm of Project MinE, Dr. John Landers joins Project MinE co-founder Dr. Leonard van den Berg for a Webinar overview of the exciting discovery of NEK1. Mark your calendars today!
[UPDATED JULY 26, 2016]: Over the last day, The ALS Association has received multiple questions surrounding the NEK1 gene discovery and how it affects people living with ALS. For answers to the most common questions, please visit our NEK1 Questions and Answers post.
Today researchers from Project MinE, a large, international ‘big data’ initiative funded by The ALS Association through ALS Ice Bucket Challenge donations*, shared the exciting news that they have identified a new gene, NEK1, that ranks among the most common genes that contribute to ALS.
It is known that 10 percent of ALS cases are familial, meaning genes are inherited from a family member. The other 90 percent of ALS cases are sporadic, or without a family history. It is very likely that genetics contribute, directly or indirectly, to a much larger percentage of ALS cases. The discovery of NEK1 – which is present in both sporadic AND familial ALS – gives scientists an exciting new target for drug development.
Today, leadership from Brainstorm Cell Therapeutics announced results from their recently completed U.S. phase II stem cell study of NurOwn® in patients with ALS through a press release and webinar. Below we provide some detail on this study.
The Brainstorm stem cell trial is based off of NurOwn, which is a cell therapy platform centered on mesenchymal stem cells derived from bone marrow samples given by the participants in the trial. They are induced to secrete neurotrophic factors (MSC-NTF), which are a type of nutrient for cells that was previously show to have protective effects in animal models of neurodegenerative disease.
The son of an art educator, Konnor (@KonnorSchmaltz) lost his mom to ALS a year ago this July. She fought until the very end, and through her family found strength to last as long as she could have. There isn’t a day that goes by where he isn’t reminded of her and will forever cherish the moments they shared together.
“I consider myself the luckiest man in the world …”
Whether recited by fans of America’s Pastime or by Yankees followers, by those who look to it for strength fighting this horrendous disease now or by loved ones of those they’ve lost – the weight these words carry is unfathomable.
But, why? Why would a man who had everything taken away so quickly be so…positive? Was he referring to the four home runs he hit in a single game? Maybe it had something to do with his Triple Crown win in 1934. Did The Iron Horse and future Hall of Famer not understand what most of us here know would happen to him as time progressed?
My name is Rick Bedlack. I am a neurologist at Duke University in Durham North Carolina, and I started the Duke ALS Clinic 16 years ago. I am working to empower people with this disease to live longer and better lives and to have a greater role in research. I currently run the ALSUntangled Program (www.alsuntangled.org) and The Northeast ALS Consortium (NEALS) ALS Clinical Research Learning Institute. This is the story of a new program I recently started called ALS Reversals.
ALS is a degenerative disease of motor neurons, typically characterized by progressive muscle weakness, increasing disability and shortened survivals. It is widely recognized that ALS progression can be variable. It can be variable between patients, with some folks progressing much more slowly than others. It can also be variable within a given patient, with periods where the disease seems to speed up or slow down for a while. Less appreciated is the fact that ALS progression can stop (plateau) or even reverse with significant recovery of lost motor functions.