Saphyr, an ultra-long DNA analysis technology by Bionano Genomics, is the first to successfully measure very large repeat expansions in the C9ORF72 gene, the underlying cause of some amyotrophic lateral sclerosis (ALS) cases, the…
Saphyr Technology First to Measure DNA Expansions in Key ALS Gene
Finding Strength to Keep Going
On most days, I walk three laps around the fields on my mom’s property next to my home. My stress diminishes as I drink in the natural beauty while exercising. I stop and smell apple blossoms in the spring. I pause to snack on early summer sugar snap peas…
Creatine kinase, a marker of muscle damage, is significantly elevated in people with amyotrophic lateral sclerosis (ALS), and higher levels of this protein correlate with better survival rates in patients, a recent study found. These findings suggest that monitoring creatine kinase levels is useful for predicting disease progression…
“Love the One You’re With.” In his 1970 release, Stephen Stills advised folks to show carnal affection for whomever fate paired them with. If the prurient intent is replaced with agape treatment, and the noun is made plural, the lyric becomes…
A combined analysis using people of Japanese, Chinese, and European ancestry identified five new genes associated with the non-familial, sporadic form of amyotrophic lateral sclerosis (ALS). These findings further an understanding of the genetic basis of sporadic ALS, and may support…
My heroes and role models come in all shapes and sizes. For example, Ruth Bader Ginsburg, who stood barely 5 feet tall, has always held a mighty spot in my mind. Best known as the second woman in U.S. history to be appointed a Supreme Court Justice, I admired…
An impairment in the activity of the RNA exosome complex, which cells use to degrade defective RNA molecules, could contribute to amyotrophic lateral sclerosis (ALS) caused by mutations in the C9orf72 gene, a new study indicates. The study, “The RNA exosome complex degrades expanded hexanucleotide…
The Motor Neurone Disease Association (MNDA) has begun a campaign in the U.K. calling for more accessible homes for people with motor neuron diseases, which includes amyotrophic lateral sclerosis (ALS), and a better system for delivering housing adaptations. Called Act to Adapt, the initiative follows the…
M102, a potential treatment for amyotrophic lateral sclerosis (ALS), is advancing into its first clinical study in patients through a partnership between researchers at England’s University of Sheffield Institute for Translational Neuroscience (SITraN) and Aclipse Therapeutics. This project is being supported in part by a $700,000 grant…
Finding My People
I cried again as I read yet another social media post by a caregiving spouse whose husband just died from ALS. ALS kills someone every 90 minutes, and I’ve made online connections with many caregivers, which means I frequently read of somebody’s loss. I cry hardest when another mom…
Recent Posts
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