Muscular dystrophy

The brain is the most complicated object in the universe. This is the story of scientists’ quest to decode it – and read people’s minds

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Mercoledì, Febbraio 7, 2024

This is the closest science has yet come to reading someone’s mind.

Key Points: 
  • This is the closest science has yet come to reading someone’s mind.
  • As Alexander Huth, the neuroscientist who co-led the research, told the New York Times:
    This isn’t just a language stimulus.
  • In the longer term, this could lead to wider public applications such as fitbit-style health monitors for the brain and brain-controlled smartphones.
  • On January 29, Elon Musk announced that his Neuralink tech startup had implanted a chip in a human brain for the first time.

Humanity’s greatest mapping challenge

  • By fully mapping the structure and function of a healthy human brain, we can determine with great precision what goes awry in diseases of the brain and mind.
  • Similar initiatives were launched in Europe in 2013 (the Human Brain Project) and China in 2016 (the China Brain Project).
  • This daunting endeavour may still take generations to complete – but the scientific ambition of mapping and reading people’s brains dates back more than two centuries.
  • With the world having been circumnavigated many times over, Antarctica discovered and much of the planet charted, humanity was ready for a new (and even more complicated) mapping challenge – the human brain.
  • In the 1860s, “locationist” views of how the brain worked made a comeback – though the scientists leading this research were keen to distinguish their theories from phrenology.
  • French anatomist Paul Broca discovered a region of the left hemisphere responsible for producing speech – thanks in part to his patient, Louis Victor Leborgne, who at age 30 lost the ability to say anything other than the syllable “tan”.
  • This approach depends on the findings of American physiologist John Fulton almost a century ago.
  • This stronger pulse of activity was not replicated by other sensory inputs, for example when smelling tobacco or vanilla.

The first clinical trial

  • The ultimate goal is wireless, non-invasive devices that help patients communicate and move with precision in the real world.
  • In 2004, BrainGate began the first clinical trial using BCIs to enable patients with impaired motor systems (including spinal cord injuries, brainstem infarctions, locked-in syndrome and muscular dystrophy) control a computer cursor with their thoughts.
  • The team is working with academics from different backgrounds who have been engaged in projects aimed at tackling societal and scientific challenges.
  • Patient MN, a quadriplegic since being stabbed in the neck in 2001, was the trial’s first patient.
  • In addition, brain activity was linked to the patient’s prosthetic hand and robotic arm, enabling rudimentary actions including grasping and transporting an object.
  • Also in 2017, BrainGate clinical trials reported the first evidence that BCIs could be used to help patients regain movement of their own limbs by bypassing the damaged portion of the spinal cord.

A new era of ‘mind reading’ technology

  • But having been primarily envisaged as a tool for diagnostics and monitoring, it is now also a core element of the latest neural communication and prosthetic devices.
  • Despite being behaviourally non-responsive and minimally conscious, these patients were able to answer yes-or-no questions just by using their minds.
  • Now, a decade on, the HuthLab research at the University of Texas constitutes a paradigmatic shift in the evolution of communication-enabling neuroimaging systems.
  • Whereas the brain’s capacity to produce motor intentions is shared across species, the ability to produce and perceive language is uniquely human.
  • The disadvantage of fMRI is that it can only take slow measurements of brain signals (typically, one brain volume every two or three seconds).
  • They demonstrated that the system could be used not only to decode semantic content entertained through auditive perception, but also through visual perception.
  • Importantly, they also explicitly addressed the potential threat to a person’s mental privacy posed by this kind of technology.
  • We take very seriously the concerns that it could be used for bad purposes and have worked to avoid that.

The ethical implications are immense

  • Losing the ability to communicate is a deep cut to one’s sense of self.
  • The ethical implications of providing access to such data to scientific and corporate entities are potentially immense.
  • For example, Parkinson’s disease, a neurodegenerative disease that affects movement, is co-morbid with dementia, which affects the ability to reason and think clearly.
  • In line with this approach, Chile was the first country that adopted legislation to address the risks inherent to neurotechnology.
  • One of the cornerstones of ethical research is the principle of informed consent.
  • The growing availability of neurotechnology in a commercial context that is generally subject to far less regulation only amplifies these ethical and legal concerns.
  • We are at an early stage of technological development and as we begin to uncover the great potential of BCI, both for therapeutic applications and beyond, the need to consider these ethical questions and their implications for legal action becomes more pressing.

Decoding our neuro future

  • By the middle of 2021, the total investment in neurotechnology companies amounted to just over US$33 billion (around £26 million).
  • The implant is said to include 1,024 electrodes, yet is only slightly larger than the diameter of a red blood cell.
  • The Kernel Flow, for example, is a commercially available, wearable headset that uses fNRIS technology to monitor brain activity.
  • The dawn of a new era of brain-computer interfaces should be treated with great care and great respect – in acknowledgement of its immense potential to both help, and harm, our future generations.


For you: more from our Insights series:
Unlocking new clues to how dementia and Alzheimer’s work in the brain – Uncharted Brain podcast series

Freedom of thought is being threatened by states, big tech and even ourselves. Here’s what we can do to protect it

OCD is so much more than handwashing or tidying. As a historian with the disorder, here’s what I’ve learned

Noise in the brain enables us to make extraordinary leaps of imagination. It could transform the power of computers too

To hear about new Insights articles, join the hundreds of thousands of people who value The Conversation’s evidence-based news. Subscribe to our newsletter.
Stephanie Sheir received funding from the EPSRC (grant number EP/V026518/1). Timo Istace receives funding from Fonds Wetenschappelijk Onderzoek Vlaanderen. Nicholas J. Kelley does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.

Genetic diseases: How scientists are working to make DNA repair (almost) a piece of cake

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Martedì, Febbraio 6, 2024

Growing up, I learned that members of my family had a form of muscular dystrophy called dysferlinopathy.

Key Points: 
  • Growing up, I learned that members of my family had a form of muscular dystrophy called dysferlinopathy.
  • Her leg muscles were less and less able to repair themselves and became weaker with time.
  • In this article, I will demystify hereditary diseases and show what research is being carried out to treat them.

A piece of cake? Not quite

  • The page with the chocolate cake recipe has a nice picture, but there is some information missing.
  • The recipe says to preheat the oven and measure the flour, but the rest of the page is torn.
  • In dysferlinopathy, which affects my family, the missing recipe is the protein that repairs the muscles of the arms and legs.
  • There are different types of mutations.
  • Some are caused by adding letters, like adding an ingredient to the recipe.

Repairing DNA

  • Other hereditary diseases are dominant, meaning that a mutation in the DNA passed down from just one parent is enough to impair the production of a protein.
  • As part of my research, I look at the DNA sequence of each dysferlinopathy patient to see where the error is.
  • Prime editing is a version of CRISPR-Cas9, a technique that allows DNA to be cut at a particular location.

A step in the right direction


So why aren’t we hearing about Prime editing, when it could be used to treat a variety of diseases? Because the technology is not yet fully developed. At the moment we are able to repair DNA directly in cells in the laboratory, but we lack the means to deliver the two large proteins (Cas9 and the one that rewrites) to the cells to be treated (for example, to the centre of the affected muscles).
In other words, we have found the chocolate cake recipe, but it’s written on a page that is too large to fit in an email or put in an envelope. Many laboratories, including mine, are looking for an efficient and safe vehicle that will be able to deliver these proteins.
Camille Bouchard received funding from the Jain Foundation and the Fondation du CHU de Québec.

Muscular Dystrophy Association Announces Seven Recipient Organizations of Advocacy Collaboration Grants

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Giovedì, Febbraio 1, 2024

“Muscular Dystrophy Association is proud to announce the recipients of the MDA Advocacy Collaboration Grants.

Key Points: 
  • “Muscular Dystrophy Association is proud to announce the recipients of the MDA Advocacy Collaboration Grants.
  • “The Child Neurology Foundation is thrilled to be a recipient of Muscular Dystrophy Association’s Advocacy Collaboration Grants program to support the development of a comprehensive Needs Assessment Survey,” said Katie Hentges, Director of Programs.
  • “The Muscular Dystrophy Association Advocacy Collaboration Grant will enable Cure CMD to continue its legislative advocacy work and provide skills training, resources, and advocacy opportunities for the CMD community,” said Lani Knutson, Cure CMD Advocacy Team Lead.
  • Other innovative programs, campaigns, or initiatives that can measurably impact one or more of MDA and the collaborating organizations’ common advocacy goals.

Muscular Dystrophy Association Announces Recipient of 2024 MDA Legacy Award for Achievement in Research, is Jeffrey Chamberlain, Ph.D., Leading Professor in Gene Therapy

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Martedì, Gennaio 30, 2024

The award will be presented at the 2024 MDA Clinical & Scientific Conference on Monday, March 4, by Louis Kunkel, PhD , of Boston Children’s Hospital.

Key Points: 
  • The award will be presented at the 2024 MDA Clinical & Scientific Conference on Monday, March 4, by Louis Kunkel, PhD , of Boston Children’s Hospital.
  • The MDA Legacy Award for Achievement in Research is an annual recognition for outstanding accomplishments in neuromuscular disease research.
  • "The Muscular Dystrophy Association is elated to celebrate Dr. Chamberlain and honor him with the 2024 MDA Legacy Award for Achievement in Research for his achievements in translational research.
  • The previous recipient of the MDA Legacy Award for Achievement in Research in 2023 was Merit Cudkowicz, MD, MSC Massachusetts General Hospital, for her achievements in clinical research.

Orphan designation: Adeno-associated virus vector serotype 9/rh74 containing the human CAPN3 gene and a target sequence of cardiac-specific microRNA Treatment of limb-girdle muscular dystrophy, 13/10/2023 Positive

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Domenica, Febbraio 4, 2024

Key facts

Key Points: 
  • Key facts
    - Active substance
    - Adeno-associated virus vector serotype 9/rh74 containing the human CAPN3 gene and a target sequence of cardiac-specific microRNA
    - Intended use
    - Treatment of limb-girdle muscular dystrophy
    - Orphan designation status
    - Positive
    - EU designation number
    - EU/3/23/2837
    - Date of designation
    - Sponsor
    Atamyo Therapeutics
    Patients' organisations
    For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
    European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
  • EU register of orphan medicines
    The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:
    EMA list of opinions on orphan medicinal product designation
    EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

Muscular Dystrophy Association Opens Registration for Campers and Volunteers for MDA Summer Camp 2024 to be Held at Locations Nationwide

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Lunedì, Gennaio 22, 2024

New York, Jan. 22, 2024 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA) announced today the opening of registration for both campers and volunteers for its MDA Summer Camp program.

Key Points: 
  • New York, Jan. 22, 2024 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA) announced today the opening of registration for both campers and volunteers for its MDA Summer Camp program.
  • MDA Summer Camp serves children and young adults ages 8 to 17 living with muscular dystrophy and related neuromuscular diseases.
  • Last summer, more than 800 campers attended MDA Summer Camp, with nearly 600 volunteers.
  • As is the case every year, MDA Summer Camp is offered on a first-come, first-served basis at no cost to participants.

Juvena Therapeutics Receives FDA Orphan Drug Designation for JUV-161 for the Treatment of Myotonic Dystrophy Type 1

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Martedì, Gennaio 23, 2024

Juvena Therapeutics , a biotechnology company unlocking the potential of stem cell-secreted proteins to treat muscle and metabolic diseases including muscular dystrophies and obesity, today announced the U.S. Food and Drug Administration (FDA) granted Orphan Drug designation to the company’s flagship candidate, JUV-161.

Key Points: 
  • Juvena Therapeutics , a biotechnology company unlocking the potential of stem cell-secreted proteins to treat muscle and metabolic diseases including muscular dystrophies and obesity, today announced the U.S. Food and Drug Administration (FDA) granted Orphan Drug designation to the company’s flagship candidate, JUV-161.
  • JUV-161 is an investigational therapeutic for the treatment of Myotonic Dystrophy Type 1 (DM1), a rare, multi-systemic, autosomal dominant inherited disease and the most common form of adult muscular dystrophy.
  • “People living with DM1 deserve safe, effective, and rejuvenating treatments that can repair and restore tissue health to improve muscle function and metabolism,” said Dr. Hanadie Yousef, Co-Founder and CEO of Juvena Therapeutics.
  • Additionally, Juvena has identified multiple secreted protein hits that induce disease-modifying effects across several metabolic organs and therapeutic areas.

Select Harris Teeter stores host Health Partner Round Up Campaign

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Mercoledì, Gennaio 24, 2024

MATTHEWS, N.C., Jan. 24, 2024 /PRNewswire-PRWeb/ -- Harris Teeter announced today the launch of its Health Partner Round Up Campaign to benefit six leading health non-profit organizations, including: American Cancer Society (ACS), American Heart Association (AHA), ALS Association, JDRF Diabetes Foundation, Muscular Dystrophy Association (MDA) and former Carolina Panther Greg Olsen's foundation, the HEARTest Yard. In 2023, this campaign raised more than $900,000 in total.

Key Points: 
  • MATTHEWS, N.C., Jan. 24, 2024 /PRNewswire-PRWeb/ -- Harris Teeter announced today the launch of its Health Partner Round Up Campaign to benefit six leading health non-profit organizations, including: American Cancer Society (ACS), American Heart Association (AHA), ALS Association, JDRF Diabetes Foundation, Muscular Dystrophy Association (MDA) and former Carolina Panther Greg Olsen's foundation, the HEARTest Yard.
  • North Carolina and South Carolina stores will also benefit the HEARTest Yard in addition to the ones listed above.
  • The funds collected throughout the campaign will be evenly distributed among the health charity partners.
  • These donations are critical for these organizations to continue conducting research and providing life-saving treatments and programs," said Danna Robinson, director of corporate affairs for Harris Teeter.

CureDuchenne Announces Educational Events for Families and Caregivers of Individuals with Duchenne or Becker Muscular Dystrophy

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Martedì, Gennaio 23, 2024

NEWPORT BEACH, Calif., Jan. 23, 2024 /PRNewswire/ -- CureDuchenne, a global leader in research, patient care and innovation for improving and extending the lives of those living with Duchenne muscular dystrophy, has announced its schedule of CureDuchenne Cares workshops and dinner sessions for the first half of the year, as well as its annual conference. CureDuchenne Cares provides interactive outreach programs to educate, empower, support and improve connections among families and caregivers of individuals with Duchenne muscular dystrophy, one of the most common and severe forms of muscular dystrophy, or Becker muscular dystrophy.

Key Points: 
  • CureDuchenne Cares provides interactive outreach programs to educate, empower, support and improve connections among families and caregivers of individuals with Duchenne muscular dystrophy, one of the most common and severe forms of muscular dystrophy, or Becker muscular dystrophy.
  • "At CureDuchenne, we are committed to accelerating a cure for Duchenne muscular dystrophy and fostering a community where families and caregivers can find strength, support and hope," said Debra Miller, founder and CEO of CureDuchenne.
  • "Our CureDuchenne Cares events are designed to be more than just educational; they are a lifeline, connecting individuals to a network of care, understanding, and the latest advancements in treatment.
  • We believe in empowering our community with knowledge and resources, ensuring that no one faces the challenges of Duchenne or Becker alone."

Sarepta Therapeutics Initiates Screening in EMERGENE, a Phase 3 Clinical Study of SRP-9003 for the Treatment of Limb-Girdle Muscular Dystrophy Type 2E/R4

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Martedì, Gennaio 16, 2024

Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that screening is underway in Study SRP-9003-301.

Key Points: 
  • Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that screening is underway in Study SRP-9003-301.
  • Also known as EMERGENE, Study 9003-301 is a Phase 3, multi-national, open-label study of SRP-9003 (bidridistrogene xeboparvovec) for the treatment of limb-girdle muscular dystrophy Type 2E (LGMD2E/R4), or beta sarcoglycanopathy.
  • EMERGENE will enroll 15 participants (ambulatory and non-ambulatory), aged 4 and older, and uses commercially representative process SRP-9003 material.
  • “We are pleased to share our continued progress in advancing SRP-9003, our investigational gene therapy candidate for LGMD2E, a rare form of LGMD with no treatments beyond symptom management.