Current Muscular Dystrophy News and Events | Page 2

Current Muscular Dystrophy News and Events, Muscular Dystrophy News Articles.
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Scientists edge closer to treatment for myotonic dystrophy
Scientists at the University of Nottingham have taken a step closer towards developing a treatment for the long-term genetic disorder, myotonic dystrophy. (2020-04-29)

Substituting the next-best protein
Children born with Duchenne muscular dystrophy have a mutation in the X-chromosome gene that would normally code for dystrophin, a protein that provides structural integrity to skeletal muscles. The loss of this protein causes severe symptoms, including deteriorating muscle strength beginning around the age of four. While there is no cure, a promising area of research has developed around the protein utrophin, which is ~ 80% identical to dystrophin and even takes its place early during muscle development. (2020-04-24)

Russian scientists has developed and introduced new laser method for cataract surgery
Scientists from ITMO and the S.N. Fyodorov Eye Microsurgery Complex came up with a technology where a laser is used both to destroy the clouded eye lens and to stimulate the regeneration of adjacent tissue. (2020-04-07)

One size does not fit all: Not all men idolize Western ideals of muscularity
UK researchers reported that men in Uganda and Nicaragua were generally less hung up about their body image and cared less about pursuing a muscular physique than British men. The study employed new body-imaging technology and machine learning to understand different cultural attitudes around the drive toward ideals of muscularity. Understanding variation between groups is important to ensure any strategies or interventions addressing negative behaviors are tailored to a specific cultural context. (2020-04-03)

Researchers reverse muscle fibrosis from overuse injury in animals, hope for human trials
High-force, high-repetition movements create microinjuries in muscle fibers. Muscle tissue responds by making repairs. But over time, with repetition of injury, healing capacity becomes overwhelmed, and microinjuries progress to fibrosis. Fibrosis weakens muscles and can put pressure on nerves, causing pain. Long thought to be irreversible, new research by Lewis Katz School of Medicine scientists shows for the first time in animals that it may be possible to undo fibrotic damage and restore muscle strength. (2020-03-30)

Experimental model mimics early-stage myogenic deficit in boys with DMD
An experimental model of severe Duchenne muscular dystrophy that experiences a large spike in TGFβ activity after muscle injury shows that high TGFβ activity suppresses muscle regeneration and promotes fibroadipogenic progenitors, Children's National Hospital researchers find. (2020-03-26)

For clogged and hardened hearts, a mussel is the solution
Prof. Hyung Joon Cha and his research team developed a stem cell therapy on myocardial infarction, using proteins that can be found in mussels, mussel adhesive proteins. (2020-03-25)

Using CRISPR to find muscular dystrophy treatments
A study from Boston Children's Hospital used CRISPR-Cas9 to better understand facioscapulohumeral muscular dystrophy (FSHD) and explore potential treatments by systematically deleting every gene in the genome. Several 'hits' enabled muscle cells to stay alive and revealed pathways that could potentially be targeted with drugs. (2020-03-25)

Muscle stem cells compiled in 'atlas'
A team of Cornell researchers led by Ben Cosgrove, assistant professor in the Meinig School of Biomedical Engineering, used a new cellular profiling technology to probe and catalog the activity of almost every kind of cell involved in muscle repair. They compiled their findings into a 'cell atlas' of muscle regeneration that is one of the largest datasets of its kind. (2020-03-10)

Huntington's disease-causing DNA repeat mutations reversed in the lab
An international team of researchers identifies a compound that corrects genetic abnormalities involved in the onset and progression of Huntington's disease for which there is no definitive treatment. They successfully reversed disease-causing DNA expansion mutations with no off-target effects in the lab. They hope that their discovery may help treat other DNA repeat diseases like myotonic dystrophy. (2020-02-27)

Team deciphers how myotonic dystrophy generates lethal heart dysfunctions
Roughly 80% of people with myotonic dystrophy -- a common form of muscular dystrophy -- experience dangerous heart ailments, and heart rhythm defects are the second-leading cause of death in those with the condition. In a new study, researchers traced the molecular events that lead to heart abnormalities in myotonic dystrophy and recreated the disease in a mouse model. (2020-02-27)

New CRISPR base-editing technology slows ALS progression in mice
With a new CRISPR gene-editing methodology, scientists from the University of Illinois at Urbana-Champaign inactivated one of the genes responsible for an inherited form of amyotrophic lateral sclerosis -- a debilitating and fatal neurological disease for which there is no cure. The novel treatment slowed disease progression, improved muscle function and extended lifespan in mice with an aggressive form of ALS. (2020-02-26)

Releasing brakes: Potential new methods for Duchenne muscular dystrophy therapies
Testing of small molecules in mouse models for Duchenne muscular dystrophy shows promise for restoration of muscle structure and function. (2020-02-24)

A promising new strategy to help broken bones heal faster
To improve how broken bones heal in people with diabetes, University of Pennsylvania researchers are leading work to develop an affordable oral therapy -- grown in plants. (2020-02-24)

Gene therapy can protect against ALS and SMA-related cell death
Researchers at Karolinska Institutet in Sweden and the University of Milan in Italy have identified a gene in human neurons that protects against the degeneration of motor neurons in the deadly diseases ALS and SMA. Gene therapy in animal models of these diseases was shown to protect against cell death and increase life expectancy. The study is published in the eminent journal Acta Neuropathologica. (2020-02-17)

Duchenne muscular dystrophy diagnosis improved by simple accelerometers
Testing for Duchenne muscular dystrophy can require specialized equipment, invasive procedures and high expense, but measuring changes in muscle function and identifying compensatory walking gait could lead to earlier detection. Researchers present a relative coupling coefficient, which can be used to quantify the factors involved in the human gait and more accurately screen for the disorder. They measured movements of different parts of the body in test subjects, viewing the body as a kinematic chain. (2020-02-11)

ASHG survey finds Americans strongly support human genetics research and potential
Americans are excited and optimistic about genetics and its emerging health applications, per a new survey by ASHG and Research!America. - Most Americans agree genetic knowledge will be important to their health - Americans agree more research is needed and increased federal funding for it is important. - Results confirm importance of confidentiality and security of research data, addressing Americans' views on genetic testing coverage, and highlighting opposition to using genetics for insurance coverage/rate-setting. (2020-01-29)

Researchers identify mechanism that triggers a rare type of muscular dystrophy
A study led by the IBB-UAB has identified the molecular mechanism through which a protein, when carrying genetic mutations associated with a rare disease known as limb-girdle muscular dystrophy, type 1G, accelerates its tendency to form amyloid fibrils and finally triggers the appearance of the disease. The research, published in Cell Reports, will pave the way for the study of possible treatments. (2020-01-29)

Six patients with rare blood disease are doing well after gene therapy clinical trial
UCLA researchers are part of an international team that reported the use of a stem cell gene therapy to treat nine people with the rare, inherited blood disease known as X-linked chronic granulomatous disease, or X-CGD. Six of those patients are now in remission and have stopped other treatments. Before now, people with X-CGD - which causes recurrent infections, prolonged hospitalizations for treatment, and a shortened lifespan -- had to rely on bone marrow donations for a chance at remission. (2020-01-28)

Gene scissors against incurable muscular disease
Duchenne type muscular dystrophy (DMD) is the most common hereditary muscular disease among children, leaving them wheelchair-bound before the age of twelve and reducing life expectancy. Researchers at Technical University of Munich (TUM), Ludwig Maximilian University of Munich (LMU) and the German Research Center for Environmental Health (Helmholtz Zentrum München) have developed a gene therapy that may provide permanent relief for those suffering from DMD. (2020-01-27)

Parents with terminally ill children tend to hide emotional pain from their spouses
A study led by NTU Singapore suggests that Asian parents with terminally ill children found tend to defer discussing their psychological pain with their spouses to protect them from emotional distress. Instead, they prefer to revealed the parents' preference to support each other in pragmatic and solution-oriented ways such as discussing treatment options, arranging care plans and sharing caregiving responsibilities. (2020-01-16)

'PigeonBot's' feather-level insights push flying bots closer to mimicking birds
Birds fly in a meticulous manner not yet replicable by human-made machines, though two new studies in Science Robotics and Science -- by uncovering more about what gives birds this unparalleled control -- pave the way to flying robots that can maneuver the air as nimbly as birds. (2020-01-16)

Heart-function protein may help muscular dystrophy patients live longer
Rutgers-led discovery may help prevent muscular dystrophy-related heart disease, the leading cause of death in patients with Duchenne muscular dystrophy (2020-01-14)

Virus surfaces help MTU engineers study vaccine and gene therapy applications
An isoelectric point is a common way to characterize viruses. However, it's not easy. To improve manufacturing for vaccines and gene therapy, a Michigan Tech team uses surface charge to determine the isoelectric point of different viruses. Specifically, they use a single-particle method with atomic force microscopy (AFM). (2020-01-08)

Evidence of a human segmentation clock reveals how an embryo's vertebrae tick
To reproduce the molecular steps that lead to the proper formation of the human spine, investigators from Brigham and Women's Hospital have developed a model in a dish, allowing them to study just what makes our segmentation clock tick. (2020-01-08)

Cellular clock regulating human spine development
After decades of effort, scientists use induced pluripotent stem cells to model human spine development. Findings provide proof of existence of a segmentation clock in humans guiding spine formation. Work sets stage for better understanding of musculoskeletal and metabolic disorders, including congenital scoliosis, muscular dystrophy and type 2 diabetes. (2020-01-08)

The 'airbag' that protects cells against stress
CNIC scientists have identified the molecular mechanisms that allow our cells to adapt to, protect themselves against, and survive mechanical stress. (2019-12-20)

Strong change of course for muscle research
Scientists have discovered a new subtype of muscle stem cells. These cells have the ability to build and regenerate new muscles, making them interesting targets for the development of gene therapies. (2019-12-20)

Genetic test could aid quest to reveal causes of rare diseases
The causes of rare diseases could be uncovered using an approach created to identify genetic mutations that trigger a muscle-wasting condition, a study suggests. (2019-12-17)

Genomic cut and paste using a Class 1 CRISPR system
Repairing faulty genes to prevent and cure disease is something researchers have been working towards for many years. While Class 2 CRISPR systems show great promise as gene editing tools in human cells, a research team led by Osaka University has now demonstrated that a Cas3-based Class 1 CRISPR system may provide a more efficient and safer alternative, carrying out successful repair of a gene mutation responsible for Duchenne muscular dystrophy in patient-derived cells. (2019-12-09)

Simulating amino acid starvation may improve dengue vaccines
In a new paper in Science Signaling, researchers at the University of Hyderabad in India and the Cornell University College of Veterinary Medicine show that a plant-based compound called halofuginone improves the immune response to a potential vaccine against dengue virus. (2019-11-26)

Recovery from years of inactivity requires focusing on doing resistance exercises rapidly
Several years of hospitalisation, one example of muscle inactivity, causes a disproportionate decline in the muscle strength known to affect balance, increase the risk of joint injuries, and hinder movements involved in sports. That's according to research from the University of Roehampton, published today in Experimental Physiology. (2019-11-26)

Master regulator in mitochondria is critical for muscle function and repair
New study identifies how loss of mitochondrial protein MICU1 disrupts calcium balance and causes muscle atrophy and weakness. (2019-11-14)

Nusinersen improves motor function in adults with spinal muscular atrophy
A study published in the Journal of Neuromuscular Diseases presents the first evidence of mild improvement or stabilization of motor and respiratory function in adults with spinal muscular atrophy type 3 (SMA3) treated with Nusinersen, which was the case even in patients who have had the disease for 20 years or more. These findings prove the efficacy of Nusinersen beyond types and age groups, paving the way for adult treatment. (2019-11-11)

BU researchers design 'intelligent' metamaterial to make MRIs affordable and accessible
Boston University researchers have developed a new, 'intelligent' metamateria l-- which costs less than ten bucks to build -- that could revolutionize magnetic resonance imaging (MRI), making the entire MRI process faster, safer, and more accessible to patients around the world. (2019-11-05)

Transforming DNA repair errors into assets
A new bioinformatics tool, MHcut reveals that a natural repair system for DNA damage, microhomology-mediated end joining, is probably far more common in humans than originally assumed. Using MHcut and commercial genome-editing technology, the researchers created mutations in iPS cells with extraordinary precision to model diseases without the need of patient samples. The tool is expected to make it easier to study diseases even when patients are rare or unavailable. (2019-10-28)

More evidence linking common bladder medication to a vision-threatening eye condition
A drug widely prescribed for a bladder condition for decades, now appears to be toxic to the retina, the light sensing tissue at the back of the eye that allows us to see. (2019-10-12)

Scientists at the MDI biological laboratory are decoding the genetic mechanisms of aging
A new paper by MDI Biological Laboratory scientists Jarod Rollins, Ph.D., and Aric Rogers, Ph.D., co-corresponding authors, describes the mechanisms by which longevity is regulated post-transcriptionally, or after a genetic blueprint has been transcribed from an organism's DNA. The identification of these mechanisms will serve as a road map for screening new, more specific drugs to prolong healthy lifespan. The laboratory, located in Bar Harbor, Maine, focuses on research on regeneration and aging. (2019-10-10)

Powerful new genomics method can be used to reveal the causes of rare genetic diseases
The technique, which appears in the latest issue of Science, makes use of the fact that people inherit two copies or ''alleles'' of virtually every gene, one from the mother and one from the father. The new method compares activity levels of maternal and paternal alleles across the genome and detects when the activity of an allele lies far enough outside the normal range to be a plausible cause of disease. (2019-10-10)

Gene therapy for Duchenne muscular dystrophy safely preserves muscle function
A gene therapy being developed at Penn Medicine to treat Duchenne muscular dystrophy (DMD) successfully and safely stopped the severe muscle deterioration associated with the rare, genetic disease in both small and large animal models, according to a first-of-its-kind study from Penn Medicine researchers. The findings puts the field within closer reach of a safe and effective gene therapy that uses a 'substitute' protein without triggering immune responses known to hinder other therapeutic approaches. (2019-10-07)

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