Researchers funded by The ALS Association, through donations from the ALS Ice Bucket Challenge, discovered new evidence on the role that mutant TDP-43 plays in development and progression of the disease. This important work sheds light on novel aspects of TDP-43 biology and provides valuable tools to gain insight into early stages of ALS disease progression and could lead to the development of new therapies.
Mutations in TDP-43 protein account for approximately five percent of inherited ALS cases. The mis-regulation of the mutated protein is central to disease pathways of ALS, but how these mutations cause ALS is largely unknown: both the loss of TDP-43’s function and the gain of its function has been connected to disease development and progression.
Dr. Elizabeth Fisher from the MRC Centre for Neuromuscular Disease in London and colleagues set out to better understand how TDP-43 causes ALS. They describe new TDP-43 mouse models that demonstrate significant and opposite effects on splicing events, which is validated in cells derived from people with ALS.
“This exciting new mouse model expressing physiologically relevant levels of the mutant protein with an ALS-like disease phenotype is an invaluable tool for the research community to better understand disease mechanism and explore novel therapeutic approaches,” stated Dr. Lucie Bruijn, chief scientist of The ALS Association.
Continue reading Ice Bucket Donations at Work: New TDP-43 Mouse Models Shed Light on ALS Disease Pathways
In recognition of ALS Awareness Month, we’re sharing many new stories about people living with the disease and their caregivers, the volunteers and health care providers who help make the lives of people with ALS better, the powerful fundraisers and participants in Walk to Defeat ALS and Team Challenge ALS events, and the researchers fighting for a cure. This is the second profile in that series.
Also, The ALS Association just launched three new public service announcements (PSAs) highlighting what life is like with ALS, and we’ll be promoting them throughout this month to show “The Reality of ALS.” Each PSA focuses on a person living with ALS, including David McClain, who is featured in “A Few Words.” (Watch it here.)
David is originally from Rockwall, Texas, and is now on what he calls “an extended stay in New Haven, Connecticut.” He has lived with ALS for more than 15 years.
Until ALS robbed him of his career, he spent 25 years working in sales for a steel company. He and his wife, Donna, met 33 years ago and were engaged after dating two weeks.
Continue reading David McClain: ‘There is ALWAYS Hope’
The ALS Association mourns the loss of Dr. Stephen Hawking and commemorates his life and legacy.
Hawking, a renowned physicist and best-selling author who famously studied black holes and whose life was depicted in the 2014 film The Theory of Everything, was diagnosed with ALS, also known as Lou Gehrig’s Disease, in 1963. The average life expectancy of person living with ALS is approximately two to five years after diagnosis and only 10 percent of people survive for more than 10 years.
He served as an inspiration for many in all walks of life, including people living with ALS around the world.
“Be curious, and however difficult life may seem, there is always something you can do, and succeed at. It matters that you don’t just give up,” Hawking once said.
ALS Association Board of Trustees Chair Stephen Winthrop spoke of Hawking’s impact.
“Most people describe ALS as a disease that, bit by bit, robs a patient’s ability to move and function. But Stephen Hawking has inspired me to focus on what I can do, rather than what my body can no longer do,” Winthrop said.
First there was Black Friday… Then Cyber Monday…
By now, you’ve probably heard of #GivingTuesday – the global day of giving back! And while it’s a great day to raise money for ALS, #GivingTuesday is trending on all social networks, making it the best time to share your ALS story. We’ll share your stories on our social channels in the hopes of inspiring others to join us in the fight against ALS.
Continue reading It’s #GivingTuesday
Are you ready for some Cyber Monday deals?! Turn those deals into support for people living with ALS and their families by shopping through AmazonSmile.
Continue reading Shop Cyber Monday While Fighting ALS
By Stephen Winthrop
If you ever run into me, you’ll notice that I am wearing a button that says, “I have ALS. Ask me about it.” I love this button because of the conversations it creates with people who want to learn more about ALS and my own journey. Now, I’d like to have an important conversation with you.
Continue reading I’m Thankful for People Like You!
Thomas Todd is one of the hundreds of people living with ALS who was impacted by Hurricane Harvey. As Harvey approached, Thomas was able to safely ride out the storm with friends, but the hurricane had a devastating impact on his house. Harvey flooded his house with nearly two feet of water.
As part of our outreach efforts, The ALS Association Texas Chapter contacted Thomas to assess his needs. When we met up with Thomas he was waiting outside his house, unable to enter because the waters shifted the ramp into his house.
Continue reading REPORT FROM HOUSTON: Home Visits