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Why Is It So Hard To Cure ALS? by Fernando G. Vieira

Stephen Hawking was diagnosed with ALS in his 20s. Despite losing his ability to walk, speak, and use his hands, he lived for over 50 years with the disease and became a renowned physicist. ALS remains one of the most complex and devastating diseases, affecting motor neurons and resulting in the loss of muscle function. While the causes are still largely unknown, research has provided some insights. ALS may involve misfolded proteins forming clumps in motor neurons and impacting other cell types like immune cells. This highlights the disease's complexity but is helping researchers pursue new treatments like drugs, stem cell therapies, and gene therapies to repair damage and slow the progression of ALS.

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0% found this document useful (0 votes)
70 views1 page

Why Is It So Hard To Cure ALS? by Fernando G. Vieira

Stephen Hawking was diagnosed with ALS in his 20s. Despite losing his ability to walk, speak, and use his hands, he lived for over 50 years with the disease and became a renowned physicist. ALS remains one of the most complex and devastating diseases, affecting motor neurons and resulting in the loss of muscle function. While the causes are still largely unknown, research has provided some insights. ALS may involve misfolded proteins forming clumps in motor neurons and impacting other cell types like immune cells. This highlights the disease's complexity but is helping researchers pursue new treatments like drugs, stem cell therapies, and gene therapies to repair damage and slow the progression of ALS.

Uploaded by

Flavia Pacheco
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Why is It so Hard to Cure ALS? by Fernando G.

Vieira
In ____, a ___-year-old physicist _____ Stephen Hawking was diagnosed with a rare neuromuscular
disorder called amyotrophic lateral sclerosis, or ALS. _______, he lost the ability _______, use his
hands, move _________, and even swallow.
But throughout it all, he retained his incredible _______, and in the more than __ years that
followed, Hawking became one of history’s most accomplished and famous physicists. However, his
condition went uncured and he passed away in _____ at the age of _____.
Decades after his diagnosis, ALS still ranks as one of the most complex, mysterious, and devastating
diseases to affect humankind. Also called motor neuron disease and Lou Gehrig’s Disease, ALS affects
about two out of every 100,000 people worldwide. When a person has ALS, their motor neurons, the
cells responsible for all voluntary muscle control in the body, lose function and die.
No one knows exactly why or how these cells die and that’s part of what makes ALS so hard to treat. In
about 90% of cases, the disease arises suddenly, with no apparent cause. The remaining 10% of cases
are hereditary, where a mother or father with ALS passes on a mutated gene to their child. The
symptoms typically first appear after age 40. But in some rare cases, like Hawking’s, ALS starts earlier
in life.
Hawking’s case was also a medical marvel because of how long he lived with ALS. After diagnosis, most
people with the disease live between 2 to 5 years before ALS leads to respiratory problems that usually
cause death. What wasn’t unusual in Hawking’s case was that his ability to learn, think, and perceive
with his senses remained intact. Most people with ALS do not experience impaired cognition. With so
much at stake for the 120,000 people who are diagnosed with ALS annually, curing the disease has
become one of our most important scientific and medical challenges.
Despite the many unknowns, we do have some insight into how ALS impacts the neuromuscular
system. ALS affects two types of nerve cells called the upper and lower motor neurons. In a healthy
body, the upper motor neurons, which sit in the brain’s cortex, transmit messages from the brain to the
lower motor neurons, situated in the spinal cord. Those neurons then transmit the message into
muscle fibers, which contract or relax in response, resulting in motion. Every voluntary move we make
occurs because of messages transmitted along this pathway.
But when motor neurons degenerate in ALS, their ability to transfer messages is disrupted, and that
vital signaling system is thrown into chaos. Without their regular cues, the muscles waste away.
Precisely what makes the motor neurons degenerate is the prevailing mystery of ALS. In hereditary
cases, parents pass genetic mutations on to their children. Even then, ALS involves multiple genes with
multiple possible impacts on motor neurons, making the precise triggers hard to pinpoint.
When ALS arises sporadically, the list of possible causes grows: toxins, viruses, lifestyle, or other
environmental factors may all play roles. And because there are so many elements involved, there’s
currently no single test that can determine whether someone has ALS. Nevertheless, our hypotheses on
the causes are developing. One prevailing idea is that certain proteins inside the motor neurons aren’t
folding correctly, and are instead forming clumps. The misfolded proteins and clumps may spread
from cell to cell.
This could be clogging up normal cellular processes, like energy and protein production, which keep
cells alive. We’ve also learned that along with motor neurons and muscle fibers, ALS could involve
other cell types. ALS patients typically have inflammation in their brains and spinal cords. Defective
immune cells may also play a role in killing motor neurons. And ALS seems to change the behavior of
specific cells that provide support for neurons.
These factors highlight the disease’s complexity, but they may also give us a fuller understanding of
how it works, opening up new avenues for treatment. And while that may be gradual, we’re making
progress all the time. We’re currently developing new drugs, new stem cell therapies to repair damaged
cells, and new gene therapies to slow the advancement of the disease. With our growing arsenal of
knowledge, we look forward to discoveries that can change the future for people living with ALS.

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