Muscular Dystrophy Updates

[waltky]

Scientists close to gene therapy treatment for Muscular Dystrophy...

Gene Therapy for Muscular Dystrophy Advances
October 22, 2015 - Scientists say they could be on the cusp of having a treatment for muscular dystrophy, an inherited disease that gradually weakens and destroys muscles and currently has no cure.

The researchers focused on the most common form of the disease, which is caused by a genetic mutation that disrupts the production of a protein that strengthens and protects muscle fibers. Muscle weakness typically begins before a child turns 5, and boys are most likely to be affected.

Because the damaged gene is one of the largest in the body, replacing it with a therapeutic version proved difficult because it could not be delivered by conventional therapeutic means. Researchers at the University of Missouri developed a miniature version of the gene that protected all the muscles in diseased mice.

Melecio Fresquez, who has muscular dystrophy, participates in a pilgrimage to El Santuario de Chimayo, a chapel in Chimayo, New Mexico.​

However, delivering the microgene to all muscles in a human was a bigger task. It took the researchers more than a decade to develop a strategy to do that. They used a common virus to carry it throughout the bodies of 2- to 3-month-old puppies with muscular dystrophy. More than six months later, the dogs were developing normally.

Now that dogs have been successfully treated, the researchers say human clinical trials are being planning in the next few years. The study is published in the journal Human Molecular Genetics.

Gene Therapy for Muscular Dystrophy Advances

 

[waltky]

Gene-editing cure for MD...

Treatment to Cure Form of Muscular Dystrophy Advances
January 05, 2016 : Gene-editing technology shows promise in permanently halting Duchenne muscular dystrophy, a fatal genetic condition that affects one in 5,000 boys worldwide

Researchers have found what may be a permanent cure for Duchenne muscular dystrophy, a disabling and eventually fatal genetic condition that affects approximately one in 5,000 boys worldwide. The disease, also called DMD, causes the body to make a defective copy of a skeletal protein called dystrophin that holds muscles together. That defective protein causes muscles to weaken and wither to the point that boys with Duchennes end up wheelchair-bound, and usually die of heart or respiratory failure in their 20s and 30s.

It's an X chromosome-linked disorder, meaning the defective gene that makes dystrophin is passed on to sons by their mothers. Girls have two copies of the X chromosome, instead of one, so they are spared the disabling condition even if they inherit the genetic mutation from their mother.

Muscular dystrophy causes muscles to weaken and wither. New research shows a potential cure for Duchenne muscular dystrophy, which affects one to 5,000 boys worldwide.​

Cutting out the bad

Using the so-called CRISPR gene-editing technique, three independent groups of U.S. researchers literally cut out the defective portions of the dystrophin gene in mice, so the remaining unaffected DNA was able to make healthy copies of the essential muscle protein. "We're able to cut in a very specific place, so it's directly cutting,” said Rhonda Bassel-Duby, a molecular biologist at the University of Texas Southwestern Medical Center who participated in the research, “and we're able to remove the mutant [DNA] and hook it up in a way that you will get functional dystrophin being made."

The treatment has to be performed only one time for it to permanently halt DMD progression. Investigators described in the journal Science how they used a harmless virus to carry the editing machinery into the muscles. However, much more research is needed before CRISPR becomes a reality for treating DMD, warned Bassel-Duby, though she remained optimistic. "You know, I think this is really something that we can hopefully bring into clinics one day,” she said. “That is my dream."

Treatment to Cure Form of Muscular Dystrophy Advances

 

[shadow355]

Yeah, well - for the past two weeks or so - irregularly, the top of my lungs hurt. And the pain slightly increases when I inhale. My tops of my lungs feel like I have been running in cold weather - which I have done many times in the Military. And I still wheeze at times..... on exhalation when I lay down in bed. Funny thing is, I do not wheeze till I lay down in bed......or on the couch. I do not wheeze while standing. An audible wheezing. Sometimes I decide to take an inhaler, and sometimes I do not.

I do wish for "MD" advances in medicine though.


Shadow 355

 

[waltky]

Vigor helps children with neuro-muscular diseases...

New Device Helps Children With Muscle Disease Move Their Hands
September 01, 2016 - Children with diseases like muscular dystrophy may have a hard time moving with their weakening muscles. Now a new device, called Vigor, could help. The mechanism gives their muscles an additional boost to complete movements such as bending their wrists.

"What the user needs to do is just use a little bit of force with the device," said Vigor's designer, Xinyang Tan. It "will provide extra strength on the muscle to help the children complete the movement." Tan, a graduate student at the Royal College of Art in London, was born with cerebral palsy, so he knows what it's like to have weak muscles.

A new device called Vigor could help people with muscle-weakening diseases, such as muscular dystrophy, complete movements such as bending their wrists.​

The new apparatus, which goes over the hand and arm, has electromyography sensors on its sleeve that detect muscle signals and recognize what the user is about to do. It then sends a signal to the support mechanism on the wrist to trigger actuators that assist the muscle movement. By supporting the weak muscles, it helps the children finish their movement. "Most of the diseases, like muscular dystrophy, are progressive, so the symptoms will become worse and worse, the muscles will become weaker and weaker," Tan said. So, he points out, if the children exercise their muscles using the device, their limbs will become stronger and more mobile. There's no cure for muscular dystrophy, although symptoms may improve with treatment such as physical therapy.

This drawing of Vigor illustrates how the device can give muscles an additional boost to help complete movements such as bending the wrist.​

Tan hopes Vigor will make it easier for children with muscle diseases to perform tasks such as eating and moving a computer mouse. There are devices on the market for children with cerebral palsy or muscular dystrophy, but Vigor is the first mechanism that enables the joints to move. "The product is more like giving dynamic or automatic support based on your feelings," Tan explained, and "fully control it like normal people." Tan hopes Vigor will provide help and hope to children with muscular diseases. He has a startup business and plans to market Vigor once he's perfected the apparatus.

New Device Helps Children With Muscle Disease Move Their Hands

Related:

New Study Suggests Paraplegics Could Regain Mobility
August 11, 2016 - The first clinical reports on technology that could allow paraplegics to walk again have been released, and researchers say the results suggest the future may offer significant recovery from otherwise paralyzing spinal cord injuries. The study was released in Thursday's Scientific Reports.

The technology was designed by the Walk Again Project, or WAP, a non-profit international research consortium led by neuroscientist Miguel Nicolelis, director of the Duke University Center for Neuroengineering. The technology was put on display in 2014 when a man paralyzed from the waist down using a brain-machine interface, was able to control the movements of a robotic exoskeleton and perform the opening kick-off in the 2014 World Cup.

Training nerves to do new things

Since 2014, Nicolelis and his team have been training a group of eight patients, paralyzed from the waist down, with their brain-controlled system. According to the report, patients have "regained the ability to voluntarily move their leg muscles and to feel touch and pain in their paralyzed limbs. This, despite being originally diagnosed as having a clinically complete spinal cord injury - in some cases more than a decade earlier." The team also reported that "the patients also regained degrees of bladder and bowel control, and improved cardiovascular function, which in one case resulted in a reduction in hypertension."

Using virtual reality to learn to walk again.​

The WAP's unique training program involved training their patients "for a year on what they call the Walk Again Neurorehabilitation protocol" which used a combination of virtual reality and moving exoskeletons to give patients what Nicolelis calls "a very realistic walking illusion." Each patient was fitted with a cap full of EEG (electroencephalogram) recording electrodes fitted over the brain areas controlling movement. In the virtual reality part of the training, the patients used an oculus rift head mounted VR display. They were "shown a three-dimensional avatar of a person, and were asked to imagine movements of their own bodies so they could make the avatar walk. All patients learned to use only their brain activity to move the avatar."

To make the illusion even more real, every time the avatar's foot touched the ground, the patients 'felt' the impact ...delivered through mechano-vibrating elements in a long-sleeved "tactile shirt." Then the patients were put in what is known as a Lokomat, which looks like the lower body of a robot, and placed on a treadmill. They then used the same EEG cap to trigger the Lokomat movements and received the same tactile feedback they had been getting in virtual reality. A third part of the training took patients off the Lokomat and into the same brain-controlled motorized exoskeleton custom demonstrated at the 2014 World Cup.

New nerve connections

See also:

Avatar Helps Children Recovering from Illness Feel Less Lonely
September 03, 2016 | WASHINGTON — A small avatar may help children who are recuperating from a long-term illness and feel isolated from their friends and classmates. The robot takes their place in school. From home or the hospital, the children can hear their teachers and friends, and even take part in class.

AV1, an avatar that represents a child who is recovering from a long-term illness and cannot go to school, can be carried between classes by the child’s friends and is placed on the desk where the child usually sits. It was developed by a Norwegian firm appropriately called No Isolation. “So it sits at the child's desk in the classroom and the child uses a tablet or a phone to start it, control its movement with touch, talk through it; so it's the eyes and the ears and the voice at school,” said Karen Dolva, a co-founder of No Isolation.

From home or a hospital bed, the recovering child can also participate in class. “It has speakers and microphones and cameras, and when the child speaks at home or in the hospital to his iPad it just comes out,” said Dolva.

The avatar was designed to be resilient - water resistant and tough enough to withstand a fall from a desk. Inside AV1 is a small computer. “It's connected to the phone network 4G and that is connected to a small card that controls the robot,” said Marius Aabel, another co-founder of No Isolation.

There’s a reason for its size and slightly humanoid appearance. “It can’t be just a tiny camera because the other kids can’t pick it up and take it with them. This supposed to be their friend,” explained Dolva. The robot just became available to the public, helping some children feel a lot less lonely.

Avatar Helps Children Recovering from Illness Feel Less Lonely

 

[waltky]

You're quite welcome...

... hope the info helps.

 

[waltky]

CRISPR-Cas9 may be used to remove genes that cause inherited diseases...

Scientists Soften on DNA Editing of Human Eggs, Sperm, Embryos: Report
February 14, 2017 - Although not ready yet, powerful gene editing tools may one day be used on human embryos, eggs and sperm to remove genes that cause inherited diseases, according to a report by U.S. scientists and ethicists released on Tuesday.

The report from the National Academy of Sciences (NAS) and the National Academy of Medicine said scientific advances make gene editing in human reproductive cells "a realistic possibility that deserves serious consideration.” The statement signals a softening in approach over the use of the technology known as CRISPR-Cas9, which has opened up new frontiers in genetic medicine because of its ability to modify genes quickly and efficiently. In December 2015, scientists and ethicists at an international meeting held at the NAS in Washington said it would be "irresponsible" to use gene editing technology in human embryos for therapeutic purposes, such as to correct genetic diseases, until safety and efficacy issues are resolved.

A DNA double helix is seen in an undated artist's illustration released by the National Human Genome Research Institute to Reuters on May 15, 2012. A group of 25 scientists June 2, 2016, proposed an ambitious project to create a synthetic human genome, or genetic blueprint, in an endeavor that is bound to raise concerns over the extent to which human life can or should be engineered.​

The latest NAS report now says clinical trials for genome editing of the human germline could be permitted, "but only for serious conditions under stringent oversight." CRISPR-Cas9 works as a type of molecular scissors that can selectively trim away unwanted parts of the genome, and replace it with new stretches of DNA. Genome editing is already being planned for use in clinical trials of people to correct diseases caused by a single gene mutation, such as sickle cell disease. But these therapies affect only the patient.

The concern is over the use of the technology in human reproductive cells or early embryos because the changes would be passed along to offspring. Research using the powerful technique is plowing ahead even as researchers from the University of California and the Broad Institute battle for control over the CRISPR patent. Although gene editing of human reproductive cells to correct inherited diseases "must be approached with caution, caution does not mean prohibition," the committee said in a statement.

Scientists Soften on DNA Editing of Human Eggs, Sperm, Embryos: Report