Spinal Muscular Atrophy News and Research

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Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of death among infants and toddlers. Characterized by selective loss of nerve cells in the spinal cord, the disease leads to increasing muscular weakness and atrophy. Over time, patients afflicted by SMA continue to lose muscle control and strength, leading to progressive inability to walk, stand, sit up and breathe. It is estimated that approximately 1 in 6,000 to 1 in 10,000 infants are born annually worldwide with SMA.

Molecular link between spinal muscular atrophy and amyotrophic lateral sclerosis

Researchers of motor neuron diseases have long had a hunch that two fatal diseases, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), might somehow be linked. A new study confirms that this link exists.

28 Sep 2012

Quest Diagnostics announces availability of TERC test for cervical cancer

Quest Diagnostics, the world's leading provider of diagnostic testing, information and services, today announced the availability of a new laboratory test that identifies molecular changes to cervical cells that increase the likelihood a woman may develop cervical cancer.

From Quest Diagnostics 31 Aug 2012

Investigators discover biological explanation for why low levels of oxygen advance SMA symptoms

Investigators at Nationwide Children's Hospital may have discovered a biological explanation for why low levels of oxygen advance spinal muscular atrophy (SMA) symptoms and why breathing treatments help SMA patients live longer. The findings appear in Human Molecular Genetics.

22 Aug 2012

MitoTarget Project and neurodegenerative diseases: an interview with Rebecca Pruss, Ph.D., CSO of Trophos

The MitoTarget Project was a project funded by the European Commission, under their FP7 programme. It was funding for a call published in 2007.

21 Aug 2012

Advanced understanding of neurodegenerative diseases achieved by Trophos

Trophos SA, a clinical stage pharmaceutical company developing innovative therapeutics from discovery to clinical validation for indications with under-served needs in neurology and cardiology, announces today the conclusion of the pan-European MitoTarget Project, the EU funded orphan disease project, with submission of the final report to the EC.

31 Jul 2012

Introducing missing gene could help extend lives of patients with SMA

A team of University of Missouri researchers has found that introducing a missing gene into the central nervous system could help extend the lives of patients with Spinal Muscular Atrophy (SMA) - the leading genetic cause of infantile death in the world.

17 Jul 2012

Conference highlights utility of zebrafish for human disorder studies

Zebrafish, popular as aquarium fish, now have an important place in research labs as a model organism for studying human diseases.

8 Jul 2012

New understanding of how motor neurons die in spinal muscular atrophy patients

Cedars-Sinai's Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers.

21 Jun 2012

Innovative strategy for regenerating skeletal muscle tissue

An innovative strategy for regenerating skeletal muscle tissue using cells derived from the amniotic fluid is outlined in new research published by scientists at the UCL Institute of Child Health.

2 Jun 2012

DYNC1H1 genetic mutation contributes to SMA-LED

Scientists have confirmed that mutations of a gene are responsible for some cases of a rare, inherited disease that causes progressive muscle degeneration and weakness: spinal muscular atrophy with lower extremity predominance, also known as SMA-LED.

11 May 2012

New system measures strength of communication between muscle cells and motor neurons

In an effort to identify the underlying causes of neurological disorders that impair motor functions such as walking and breathing, UCLA researchers have developed a novel system to measure the communication between stem cell-derived motor neurons and muscle cells in a Petri dish.

5 May 2012

Biogen Idec first quarter revenues increase 7% to $1.3 billion

Biogen Idec Inc., a global biotechnology leader in the discovery, development, manufacturing and commercialization of innovative therapies, today announced its first quarter 2012 results.

2 May 2012

Couples with infertility and miscarriages offered detailed embryo screening with 99% accuracy

Termed “preimplantation genetic screening (PGS)” the process involves a full chromosome count of embryos to ensure only the healthiest are implanted. It has a 99 per cent accuracy rate, giving hopeful parents the best chance to conceive and carry a healthy baby to term.

30 Apr 2012

Positive results from Repligen's RG3039 Phase 1 study for spinal muscular atrophy

Repligen Corporation today announced positive results from a Phase 1 study to evaluate the pharmacokinetic (PK) and safety profile of RG3039, a novel small molecule drug candidate for the potential treatment of spinal muscular atrophy (SMA).

25 Apr 2012

Abnormally low level of SMN protein linked to movement problems in spinal muscular atrophy

An abnormally low level of a protein in certain nerve cells is linked to movement problems that characterize the deadly childhood disorder spinal muscular atrophy, new research in animals suggests.

12 Apr 2012

Repligen total revenue increases to $7,165,000 for quarter ended December 31, 2011

Repligen Corporation today reported financial results for the quarter and nine-month fiscal year ended December 31, 2011.

17 Mar 2012

Drug companies forge joint ventures for smart pills

Imagine a "smart pill" containing a biodegradable electronic chip that monitors how your body responds to the medicine, broadcasts the information to your iPhone, which then emails the information to your physician.

16 Feb 2012

Biogen Idec 2011 total revenues increase 7% to $5.0 billion

Biogen Idec Inc., a global biotechnology leader in the discovery, development, manufacturing and commercialization of innovative therapies, today announced its full year and fourth quarter 2011 results.

1 Feb 2012

Pediatric research project to expand data collection linked to newborn screening results

Within the first days of life, screening tests are performed on all newborns born in the U.S. to identify rare and often life-threatening medical conditions that are not apparent at birth. These newborn screening programs have been operating for decades, permitting doctors to intervene early and improve outcomes in potentially devastating conditions.

18 Jan 2012

BioTime to market muscle progenitor cell lines bearing hereditary diseases

BioTime, Inc. today announced that it has elected to market progenitors of muscle stem cells bearing hereditary diseases. BioTime will produce the products from five human embryonic stem (hES) cell lines from Reproductive Genetics Institute (RGI) of Chicago, Illinois.

4 Jan 2012