Lou Gehrig's Disease

Remember the ice bucket challenge? It just funded an ALS breakthrough

Originally posted by huffingtonpost

The ALS Association says money raised by viral charity challenge, dismissed as ‘slacktivism’ by many, has helped identify a new gene associated with the disease

It is often easy to dismiss viral charity campaigns as “slacktivism”, which lacks in real-world impact (we never did catch the warlord Joseph Kony, after all) but a breakthrough discovery bankrolled by 2014’s ALS ice bucket challenge may give the lie to that cynicism.

The ice bucket challenge was a phenomenon in the summer of 2014 in which people dunked a bucket of iced water over their heads in order to solicit donations before nominating others to do the same.

The campaign raised more than $100m in a 30-day period, and was able to fully fund a number of research projects. One of these was Project MinE, a large data-driven initiative funded by the ALS Association through ice bucket challenge donations, as well as donations from the organization’s Georgia and New York chapters. The project’s researchers announced on Monday that they have identified a new gene associated with the disease, which experts say could lead to new treatment possibilities.

Amyotrophic Lateral Sclerosis, also known ALS or Lou Gehrig’s Disease, is a neurological disorder in which the motor neurons that control muscle function slowly die. The disease can be either sporadic or inherited, and in either case there is currently no cure.

“It’s very exciting because it shows everyone who contributed to the ice bucket challenge that their donation had an impact on the research,” said Brian Frederick, executive vice-president of communications and development at the ALS Association. The newly discovered gene, NEK1, is only associated with 3% of ALS cases, but it is present in both inherited and sporadic forms of the disease, which researchers say gives them a new target for the development of possible treatments. Project MinE has been working to sequence the genomes of 15,000 people with the disease, and the discovery, which was described in a paper published on Monday in the journal Nature Genetics, involved more than 80 researchers in 11 countries.

The discovery was significant, Frederick said, “because it helps us understand what’s triggering this and can help us better find a treatment,” though he added that “it’s still very early in our understanding of this particular gene, and we still have a ways to go with understanding ALS generally.”


Jackson Rathbone’s ALS Ice Bucket Challenge


June 2nd 1941: Lou Gehrig dies

On this day in 1941, the famous New York Yankees baseball player Lou Gehrig died aged 37. Nicknamed ‘The Iron Horse’, Gehrig’s 23 Grand Slams remained the most on record until it was broken by fellow Yankees player Alex Rodriguez in 2013. The remarkable career of this exceptionally talented baseball player ended in 1939 when, after his performance had been deteriorating, Gehrig was diagnosed with a terminal neurodegenerative disease which severely limits physical mobility (often to the point of paralysis) while not affecting the brain. The disease is known by different names; in the UK it is called motor neurone disease (MND), and in the US it is  amyotrophic lateral sclerosis (ALS). The diagnosis led Gehrig to retire aged 36, and on a July 4th 1939 ‘Lou Gehrig Appreciation Day’ at Yankee Stadium, he gave an emotional farewell speech that has become known as ‘baseball’s Gettysburg Address’. Lou Gehrig died two years later, just before his 38th birthday. His legacy continues as one of the greatest players of all time, and in the fact that many Americans now refer to ALS/MND as 'Lou Gehrig’s Disease’. Other notable people to have this disease include Stephen Hawking, whose is an unusual case as he has lived with it for over 50 years.

“Today I consider myself the luckiest man on the face of the earth…I might have been given a bad break, but I’ve got an awful lot to live for”
- Lou Gehrig in his 1939 farewell speech

New treatment hope for Amyotrophic Lateral Sclerosis

A previously unknown link between the immune system and the death of motor neurons in amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, has been discovered by scientists at the CHUM Research Centre and the University of Montreal. The finding paves the way to a whole new approach for finding a drug that can cure or at least slow the progression of such neurodegenerative diseases as ALS, Alzheimer’s, Parkinson’s and Huntington’s diseases.

The study, published in Nature Communications, shows that the immune system in the animal model C. elegans, a tiny 1 mm-long roundworm, plays a critical role in the development of ALS. “An imbalance of the immune system can contribute to the destruction of motor neurons and trigger the disease,” said Alex Parker, CRCHUM researcher and Associate Professor in the Department of Neuroscience at the University of Montreal.

Amyotrophic lateral sclerosis is a neuromuscular disease that attacks neurons and the spinal cord. Those affected gradually become paralyzed and typically die less than five years after the onset of symptoms. No effective remedy currently exists for this devastating affliction. Riluzole, the only approved medication only extends the patient’s life by a few months.

More than a dozen genes are related to ALS. If a mutation occurs in one of them, the person develops the disease. Scientists introduced a mutated human gene (TDP-43 or FUS) into C. elegans, a nematode worm widely used for genetic experiments. The worms became paralyzed within about 10 days. The challenge was to find a way of saving them from certain death. “We had the idea of modifying another gene—tir-1—known for its role in the immune system,” said Julie Veriepe, lead investigator and doctoral student under the supervision of Alex Parker. Results were remarkable. “Worms with an immune deficit resulting from the tir-1 gene’s mutation were in better health and suffered far less paralysis,” she added.

This study highlights a never previously suspected mechanism: even if the C. elegans worm has a very rudimentary immune system, that system triggers a misguided attack against the worm’s own neurons. “The worm thinks it has a viral or bacterial infection and launches an immune response. But the reaction is toxic and destroys the animal’s motor neurons,” Alex Parker explained.

Is the same scenario at work with people? Most likely. The human equivalent of the tir-1 gene—

SARM1—has proved crucial to the nervous system’s integrity. Researchers think the signalling pathway is identical for all genes associated with ALS. This makes the TIR-1 protein (or SARM1 in humans) an excellent therapeutic target for development of a medication. SARM1 is particularly important because it is part of the well-known kinase activation process, which can be blocked by existing drugs.

Alex Parker’s team is already actively testing drugs that have been previously approved by the US Food and Drug Administration for treatment of such disorders as rheumatoid arthritis, to see if they work with ALS. Obstacles still remain, however, before finding a remedy for curing or slowing the progression of amyotrophic lateral sclerosis. “In our studies with worms, we know the animal is sick because we caused the disease. This allows us to administer treatment very early in the worm’s life. But ALS is a disease of aging, which usually appears in humans around the age of 55. We do not know if a potential medication will prove effective if it is only given after appearance of symptoms. But we have clearly demonstrated that blocking this key protein curbs the disease’s progress in this worm,” Alex Parker concluded.


Tricia Helfer’s ALS Ice Bucket Challenge

75th Anniversary of Lou Gehrig's Farewell Speech (July 4th, 1939)

Fans, for the past two weeks you have been reading about the bad break I got. Yet today I consider myself the luckiest man on the face of this earth. I have been in ballparks for seventeen years and have never received anything but kindness and encouragement from you fans.

Look at these grand men. Which of you wouldn’t consider it the highlight of his career just to associate with them for even one day? Sure, I’m lucky. Who wouldn’t consider it an honor to have known Jacob Ruppert? Also, the builder of baseball’s greatest empire, Ed Barrow? To have spent six years with that wonderful little fellow, Miller Huggins? Then to have spent the next nine years with that outstanding leader, that smart student of psychology, the best manager in baseball today, Joe McCarthy? Sure, I’m lucky. 

When the New York Giants, a team you would give your right arm to beat, and vice versa, sends you a gift – that’s something. When everybody down to the groundskeepers and those boys in white coats remember you with trophies – that’s something. When you have a wonderful mother-in-law who takes sides with you in squabbles with her own daughter – that’s something. When you have a father and a mother who work all their lives so you can have an education and build your body – it’s a blessing. When you have a wife who has been a tower of strength and shown more courage than you dreamed existed – that’s the finest I know.

“So I close in saying that I may have had a tough break, but I have an awful lot to live for.”


Saturday Smuggler Does The ALS Ice Bucket Challenge

Drew Mitchell Tests The Shrinkage Factor For Charity!

Smuggle On, Dudes!


Eric Balfour and Lucas Bryant accepts Emily Rose’s ALS Ice Bucket Challenge

Do any of you guys have or know family members or friends with Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)?

I am doing my English Comp. 2 research paper on ALS, because my grandmother died from it in 2005. I’d be very interested to hear about:

  • your loved one with this disease
  • which type of ALS do they have?
  • How long have they had it? (When was initial diagnosis?)
  • How do you cope? How do they cope?

You can submit it HERE for me to read.

I’d really appreciate it!


- C


Kyra Sedgwick’s ALS Ice Bucket Challenge

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS or Lou Gehrig’s Disease) is a motor neuron disease caused by the degeneration and destruction of neurons located in the spinal cord that control voluntary muscle movement. It is named after the famous New York Yankees baseball player Lou Gehrig (pictured above) who was diagnosed in 1939 and passed way in 1941 due to the disease. 

The degeneration of neurons causes a lack of signaling to the muscles. This, in turn, leads to muscle weakening, twitching, and eventually the inability to move or control the arms, legs, and body. As the condition progresses, the muscles involved in breathing begin to fail and breathing becomes labored and difficult.

ALS affects 5 out of 100,000 people worldwide. The cause for ALS is relatively unknown, but in 10% of cases it can be traced back to a genetic defect. The condition is extremely fatal with most patients dying from respiratory compromise and pneumonia after 2 to 3 years.The disease commonly affects people between 40 and 60 years of age.

Diagnosis: No test can provide a definite diagnosis of ALS. However, the physician will rely on the symptoms that the patient exhibits to diagnose ALS. Electromyography, a technique to detect conduction velocity, can determine if nerve damage occurs. A physician will conduct a physical examination that looks at muscle strength in different areas. Muscle spasms and twitching are often indicative of early onset ALS. A CT and MRI scan may help rule out injury to the spinal cord and neck. Genetic testing can also rule out any family history of the disease.

Symptoms: The beginning symptoms of ALS are muscle weakness and atrophy. Twitching and cramping of the muscles can also occur. The arms and legs are usually the first appendages to exhibit these changes.  As the disease progresses, swallowing, breathing, and speaking all become difficult. When the disease becomes severe, patients are not able to walk or stand and lack the ability to use their arms or legs as well as chew or swallow. Lastly, the intercostal muscles and diaphragm muscle atrophies and normal breathing is extinguished ultimately causing death.

Treatment: There is no cure for ALS. There are a few medications that can slow the disease progression and extend longevity. These drugs include riluzole, diazepam, and other spastic drugs. Some of the symptoms can be managed, but the disease is ultimately fatal.

Additional Information:

In the book Tuesdays With Morrie, the titular character is affected by ALS.

Lou Gehrig’s farewell speech:


A few videos documenting people affected by ALS:




anonymous asked:

Hello! You don't have to answer this, but I just wanted to send you something because one of your previous asks really hit home for me. I know someone who died of Lou Gehrig's disease. I've even run to raise money in hopes of finding a cure. So when I saw that you were at risk, I was more than devastated. You're such a cool guy, and I think a lot of people would agree. I'll definitely keep you in my thoughts, man. Just stay awesome and keep doing what you're doing.

The fear hits me a lot, and while it’s often small enough to move past there are times when it can really cripple my ability to keep composure for a while. There’s a whole layer of discussion I could go into regarding just how extensive it gets at times, but it’s not a healthy place for me to visit versus focusing my efforts towards making the most of the time I do have.

Part of the very reason why I will never get myself tested - to officially determine whether I have the gene or not - is because I never want my motivations in life to be driven by fear and panic; everything I accomplish in my lifetime, I want to feel like it was because of a legitimate desire to do more, not because I wanted to squeeze something in before the chance was robbed from me. Acting out of necessity will never be as authentic as acting out of genuine interest.

I honestly just want as much time as possible to spend with the people I love and admire. I don’t really care what kind of afterlife exists or if it exists at all; if it means having to spend time away from them (whether temporarily, or forever), it might as well be my own personal Hell.


Michael J. Fox’s ALS Ice Bucket Challenge