motor neurone disease

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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

theguardian.com
After the ice bucket challenge: they raised $115m for the fight against ALS. So how did they spend it?
When a viral challenge raised $115m to fight ALS, the charity that got the money was overwhelmed. As the first breakdown of spending emerges, David Cox asks what happened next — and what it means for patients
By David Cox

Wanna feel better about something?  

Of the $115M raised, ALSA has given 70% of it to research projects, including genetic research that might be the best bet for a treatment.  Another 20% was used to reopen assistance centers shuttered during the crash, restore funding to others and build some new ones, and provide assistance to ALS patients all over the country.  The remaining 10% went to publicity, additional fundraising and administration.

Their spokesman said that the increase in visibility and awareness for ALS is immeasurable, and ought to benefit them for years to come.

So next time you get sick of a viral campaign, maybe reconsider.

Emma Watson recommended us the movie The Theory of Everything staring Eddie Redmayne and Felicity Jones.

If you haven’t seen Eddie Redmayne in #TheTheoryofEverything yet.. GO. It’s a completely unmissable performance. Felicity Jones amazing too

— Emma Watson (@EmWatson)

January 5, 2015

In the 1960s, Cambridge University student and future physicist Stephen Hawking (Eddie Redmayne) falls in love with fellow collegian Jane Wilde (Felicity Jones). At 21, Hawking learns that he has motor neuron disease. Despite this ,and with Jane at his side ,he begins an ambitious study of time, of which he has very little left, according to his doctor. He and Jane defy terrible odds and break new ground in the fields of medicine and science, achieving more than either could hope to imagine.

:( I want to see it.TIG too.

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“Unfortunately, nowadays with film you don’t really get the opportunity to shoot chronologically - unless you’re Boyhood. So I did know from the outset that we weren’t going to have that luxury. So the important thing for me was trying to educate myself on the specifics of the disease, and then I worked with a dancer, a woman called Alex Reynolds, who helped train my body to be able to sustain specific positions for extended periods. The reason I did that all in the four months before filming was so when it came to working with Felicity Jones, who was playing Jane, we could actually just play the human story, the emotional story, and I wasn’t thinking about the specifics and ramifications of motor neurone disease.” Eddie Redmayne on becoming Stephen Hawking.

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.

Motor neurone disease -- researchers identify new group of gene suspects

Researchers have identified a new host of gene variants that could make people vulnerable to sporadic motor neurone disease, according to a report published today in the journal, Scientific Reports.

Until recently, it was thought that genetics made little contribution to the disease - also termed amyotrophic lateral sclerosis (ALS) - and that the environment was mostly to blame.

Currently two to three thousand Australians are living with this fatal disease. Motor neurone disease (MND) is a group of diseases in which the nerve cells in the brain and spinal cord controlling the muscles that enable us to move, speak, breathe and swallow slowly degenerate and die.

Death is caused by respiratory failure, which typically occurs within 2 to 5 years of developing this debilitating condition.

MND is also the subject of a major research program at the University of Sydney’s Brain and Mind Research Institute. Awareness of MND has spiked in recent times due to the social media campaign supporting the ‘Ice Bucket Challenge’, and the Oscar winning biopic about cosmologist Stephen Hawking, The Theory of Everything.

“This is an advance in knowledge about the role genetics is likely to play in sporadic forms of motor neurone disease,” says the University of Sydney’s Associate Professor Roger Pamphlett, a co-author of the new study.

'Sporadic’ motor neurone disease accounts for about 90 per cent of cases. It refers to random, isolated cases in which individuals have no known risk factors or family history of the disease.

“The findings indicate that the genetic changes underlying many cases of sporadic motor neurone disease could stem from one of two sources,” Associate Professor Pamphlett says. “Sufferers either have a rare combination of genetic changes they inherited from their otherwise normal parents, or they have newly-arising changes in genes that were not present in their parents.”

In an effort to identify genetic variants that may play a role in the disease, the researchers sequenced the protein-coding genes of 44 MND-affected individuals and their parents.

They found that two in five MND-affected individuals had inherited rare, recessive gene variants from their parents, and a quarter had developed novel gene variants that were not present in their parents. The researchers believe these gene variants are “promising candidates” for playing a role in the development of motor neurone disease.

Many of these “genetic suspects” have been identified in other brain-related disease, including Alzheimer’s disease, Parkinson’s disease and autism. Also, many are involved in biological processes or metabolic pathways implicated in the development of motor neurone disease.

While the researchers cannot yet point to a potential therapeutic application of their findings, identifying genetic changes that underlie MND is the first step in finding ways to manipulate these changes using gene therapy.

omnitrixareforkids-blog  asked:

Something interesting happened, pewdiepie actually decided instead of doing the bucket challenge he'd do what he'd seen so few do and talk about the actual illness. I have my obvious issues with pewdiepie but, this was a choice I kind of liked. So

far I only saw 2 other youtubers who did if talk about als and the message seems to be getting lost in the challenge

youtube

James McAvoy’s ALS Ice Bucket Challenge.

It’s really odd when you meet somebody you’re about to play, and Stephen must have been as terrified by that as I was. I felt a huge responsibility.
The first thing you get when you meet someone with motor neurone disease is the complete person. You see past the disability instantly to all the rich complexities of a human character. It was very important for me not to let the symptoms swamp the character.
— 

Benedict Cumberbatch, on playing Stephen Hawking, Telegraph interview, April 2004 (x)