Muscular Atrophy News and Research

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Researchers identify a natural amino acid as potential treatment for polyQ diseases

Familial spinocerebellar ataxia (SCA), Huntington disease, and spinal and bulbar muscular atrophy are inherited neurodegenerative diseases.

25 May 2020

Researchers develop electric stocking to prevent loss of muscle mass in bed-ridden patients

Doctors and engineers have together developed an electric stocking to prevent loss of muscle mass in bed-ridden patients. During the coming months, the stocking will be tested on Danish COVID-19 patients at intensive care units in Denmark.

23 Apr 2020

Newborn screening for spinal muscular atrophy promises a benefit

On behalf of the Federal Joint Committee, the Institute for Quality and Efficiency in Health Care investigated whether it is meaningful to test newborns in Germany for spinal muscular atrophy in combination with earlier diagnosis and treatment.

6 Apr 2020

New form of gene editing 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.

26 Feb 2020

New breakthrough offers hope for potential treatment of rare childhood epilepsy

Seizure disorders in babies are frightening and heartbreaking. A new basic science breakthrough offers hope for a potential treatment for rare developmental and epileptic encephalopathies resulting from a single genetic mutation.

20 Feb 2020

Outcomes-based drug reimbursement may be on the horizon, report says

How can pharma and life sciences be prepared and agile enough to respond to future challenges if it has not thought about the current trends and emerging challenges?

10 Feb 2020

Successful gene therapy trial in patients with X-linked Chronic Septic Granulomatosis

American and British teams led by Drs Kohn (University of California, Los Angeles), Malech (NIH), Williams (Boston Children's) and Trasher (Great Ormond Street Institute of Child Health) published yesterday in Nature Medicine the conclusive results of a gene therapy trial conducted in the United States and Great Britain in 9 patients with X-linked Chronic Septic Granulomatosis (X-CGD), a rare and severe immune dysfunction. Six of them are free of treatment for complications generated by the disease.

28 Jan 2020

Study identifies molecular 'bridge' between ALS-causing genes

The enzyme Gemin3 was identified as the molecular 'bridge' between genes whose mutation or disruption causes amyotrophic lateral sclerosis, according to a new study in Nature's Scientific Reports from scientists at the University of Malta.

16 Jan 2020

Dog study suggests that AAV in gene therapy could induce cancer

A gene therapy study in dogs has stirred up old fears that by using AAV in gene therapy, it may be increasing cancer chances.

8 Jan 2020

Neuroscientists develop new method for uniquely targeted gene therapy

Neuroscientists at Lund University in Sweden have developed a new technology that engineers the shell of a virus to deliver gene therapy to the exact cell type in the body that needs to be treated. The researchers believe that the new technology can be likened to dramatically accelerating evolution from millions of years to weeks.

13 Dec 2019

Splicing factor enhances ability of triple negative breast cancers to grow and metastasize

If your DNA is a cookbook, a single gene is a recipe. But it's a flexible recipe that if edited one way can make a pie; edited another way can make a cake. And that difference can mean cancer, as a team of researchers who looked at those gene editors writes in the 26 November issue of Cell Reports.

26 Nov 2019

Adult SMA patients treated with Nusinersen show improvement in motor function

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.

11 Nov 2019

Study reveals link between alterations in RNA splicing and Alzheimer's disease

A collaborative study published today in the journal Cell Reports provides evidence for a new molecular cause for neurodegeneration in Alzheimer's disease.

8 Oct 2019

Medical professional offers unique perspective as father of a child with rare movement disorder

From a professional standpoint, Nathan Hoot, MD, PhD, understands the value of medical research that leads to new, groundbreaking drugs in the treatment of rare diseases.

1 Oct 2019

Scientists move one step closer to discovering the causes of immune diseases

Scientists are one step closer to discovering the causes of immune diseases such as asthma, multiple sclerosis and arthritis

23 Sep 2019

Faster, cheaper, better: improved gene therapy tool production

The heart of modern therapy is increasingly personalized and targeted at specific cellular or genetic deficits. This requires gene therapy, in many cases. A new study, published on 19 September 2019 in the journal Nature, describes an improved way to produce purified gene carrier viruses called AAVs cheaply and quickly, from the culture medium.

22 Sep 2019

BUSM researchers develop advanced protocol to improve gene therapy tool production

A method to create a faster and lower cost alternative for a gene therapy tool has been developed by Boston University School of Medicine researchers.

19 Sep 2019

Study: Gene editing may correct genetic mutation responsible for Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a rare but devastating genetic disorder that causes muscle loss and physical impairments.

18 Sep 2019

Study finds attractive therapeutic target for treatment of Kennedy's disease and prostrate cancer

A study led by scientists at the Institute for Research in Biomedicine and published in Nature Communications proposes chaperone protein Hps70 as an attractive therapeutic target for the treatment of Kennedy's disease—a rare neuromuscular condition—and of castration-resistant prostate cancer.

8 Aug 2019

Statement related to data inaccuracies with newly approved gene therapy

As a public health agency, we believe that it is critical to facilitate the development of innovative safe and effective medical products, like the cellular and gene therapy products that have shown enormous potential to treat previously untreatable diseases.

7 Aug 2019