Doctors hail breakthrough in muscular dystrophy treatment

The Guardian ^

[BenLurkin]

Duchenne muscular dystrophy is caused by mutations that disrupt the normal function of a gene on the X chromosome. The disease mostly affects boys – about one in 3,500 – because they have only one X chromosome.

Since girls have two X chromosomes they tend to have a working backup if one copy of the gene is damaged. As a result girls tend not to be affected, but can be carriers and may pass mutated genes on to their children. The key gene in muscular dystrophy is needed to make dystrophin, a protein which is crucial for strong muscle fibres. If the gene is mutated, the protein cannot be made properly, and muscles throughout the body, including the heart, diaphragm and skeleton steadily weaken and waste away. Most patients die before the age of 30 from breathing or heart problems.

Researchers led by Eric Olson at the University of Texas Southwestern Medical Center used a powerful but experimental gene-editing procedure known as Crispr-Cas9 to correct mutations in the dystrophin gene in four one-month-old dogs. The therapy uses harmless viruses to smuggle the gene-editing molecules into cells.

…

Kate Adcock, director of research and innovation at Muscular Dystrophy UK said it was exciting to see advances in gene editing applied to Duchenne muscular dystrophy, but cautioned that there were limits to the study.

“The sample size was small and the study duration too short to know whether the gene editing was safe and effective,”

[Revel]

I would think that this treatment could be tried much sooner under the right to try law that Trump got enacted.

[SMGFan]

announced as Labor Day used to have Jerry Lewis MDA telethon and we would learn news then?

[cherry]

The right to try law, the little gem that TRUMP THE MAGNIFICENT got passed.

[ckilmer]

how much does Muscular distrophy cost america?
The total national cost for the three disease combined was conservatively estimated to be somewhere between $1.07 and $1.17 billion per year. The breakdown of which was $362 to $488 million for DMD, $448 million for MMD, and $256 to $433 million for ALS.Jun 5, 2017
https://goo.gl/4SaeuP

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a cure for alzheimer’s disease would be a boon to the economy.

The estimated cost of caring for Americans with Alzheimer’s and other dementias is $277 billion this year — and that doesn’t include unpaid caregiving. Of that amount, $186 billion is the cost to Medicare and Medicaid, and $60 billion is for out-of-pocket costs, the report found.Mar 20, 2018

https://goo.gl/zFrxQm

[Zenjitsuman]

Jerry Lewis must be smiling from Heaven. He raised about
2 billion dollars for MDA over several decades.

The week he died in the hospital I knew his nurses and they all fell in love with him. All his nurses went to his funeral and that was not something they often did with their free time.

MDA didn’t treat Jerry very well and they lost a lot of supporters of MDA because these were Jerry’s Kids and he cared for them more than he did his own.

[Cloverfarm]

I am so hoping this turns out. Hubs, his dad, cousins and multiple aunts and uncles have an autosomal-dominant form of MD, limb-girdle type ... it affects muscles in the legs, hips and shoulders.

Because of the cost and pain of muscle biopsy none of our kids have been tested yet. We’re hoping for improved, less invasive testing. There’s a chance all of them have it.

Glad to see this story.

[twyn1]

Wonderful news - I had a dear friend pass away when we were both 12 years old from this disease. So sad.

[NittanyLion]

Exciting advance. My wife has a genetic mutation that significantly increases cancer risk. One day we’ll have our kids tested, but I hope and believe that by the time they need to face this challenge, similar genetic editing will be available to correct the defect they may carry. If we’re lucky - even sooner to correct my wife’s genes...

[ckilmer]

There is a very good chance that a lot of diseases will get cures in the next 10-15 years.