Comments on Spinal Muscular Atrophy Research News: Biogen Idec and Isis Pharmaceuticals Announce Glob...

New procedure repairs severed nerves in minutes, r...

2012-02-03T09:09:10.454-06:00

New procedure repairs severed nerves in minutes, restoring limb use in days or weeks
February 3, 2012

American scientists believe a new procedure to repair severed nerves could result in patients recovering in days or weeks, rather than months or years. The team used a cellular mechanism similar to that used by many invertebrates to repair damage to nerve axons. Their results are published today in the Journal of Neuroscience Research.

"We used rats as an experimental model to demonstrate how severed nerve axons can be repaired. Without our procedure, the return of nearly full function rarely comes close to happening," said Bittner. "The sciatic nerve controls all muscle movement of the leg of all mammals and this new approach to repairing nerve axons could almost-certainly be just as successful in humans."

To explore the long term implications and medical uses of this procedure, MD's and other scientist- collaborators at Harvard Medical School and Vanderbilt Medical School and Hospitals are conducting studies to obtain approval to begin clinical trials.

"We believe this procedure could produce a transformational change in the way nerve injuries are repaired," concluded Bittner.

http://medicalxpress.com/news/2012-02-procedure-severed-nerves-minutes-limb.html

Cloning scientists create human brain cells Scien...

2012-01-29T13:14:41.087-06:00

Cloning scientists create human brain cells

Scientists in Edinburgh who pioneered cloning have made a technological breakthrough that could pave the way for better medical treatment of mental illnesses and nerve diseases

"However, we have found a way round that. We can take a skin sample, make stem cells from it and then direct these stem cells to grow into brain cells. Essentially, we are turning a person's skin cells into brain. We are making cells that were previously inaccessible. And we could do that in future for the liver, the heart and other organs on which it is very difficult to carry out biopsies."

The scientists are concentrating on a range of neurological conditions, including multiple sclerosis, Parkinson's disease and motor neurone disease. In addition, work is being carried out on schizophrenia and bipolar depression, two debilitating ailments that are triggered by malfunctions in brain activity. This latter project is directed by Professor Andrew McIntosh of the Royal Edinburgh Hospital, who is working in collaboration with the regenerative medicine centre.

http://www.guardian.co.uk/science/2012/jan/29/brain-cloning-breakthrough-mental-illness

Prosensa Raises €23M to Progress Exon-Skipping Ant...

2012-01-25T20:21:27.949-06:00

Prosensa Raises €23M to Progress Exon-Skipping Antisense Oligonucleotides

The fundraising will enable Prosensa to advance its portfolio of RNA-modulating therapeutics for the treatment of rare diseases, including Duchenne muscular dystrophy (DMD), Myotonic Dystrophy (DM1) and Huntington’s disease (HD).

Hans Schikan, CEO of Prosensa, commented: “Over the past few years, we have made substantial progress in our research and development pipeline. Our lead drug candidate for Duchenne muscular dystrophy is in Phase III clinical trials in partnership with GlaxoSmithKline. We have advanced the development of five additional compounds in DMD and have announced preclinical testing for a compound for DM1. This financing will help us to further strengthen our position in rare diseases and will allow us to deliver on our promise of accelerated development of treatments for patients in need.”

Prosensa has the most advanced portfolio of drug candidates for DMD in the industry, with two compounds in clinical trials in partnership with GSK (PRO051/GSK2402968 and PRO044) and four additional compounds in preclinical development, as well as preclinical compounds for DM1 and HD. Prosensa’s DMD compounds are based on its proprietary exon-skipping technology that uses antisense oligonucleotides to restore expression of a functional dystrophin protein and to provide potential treatment for patients affected by this progressively debilitating neuromuscular disease.

http://www.genengnews.com/gen-news-highlights/prosensa-raises-23m-to-progress-exon-skipping-antisense-oligonucleotides/81246265/

Loss of protein associated with ALS causes mitocho...

2012-01-21T10:17:43.318-06:00

Loss of protein associated with ALS causes mitochondrial disarray

RSS icon HOUSTON -- (January 20, 2012) -- A hormone-like factor, VAMP -associated protein (VAP) has been implicated in both amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease) and spinal muscular atrophy).

Roles of maintenance, energy metabolism

The Robo and Lar-like receptors were previously characterized as growth cone guidance receptor pathways that are known to guide the growth of axons during developmental stages. Surprisingly, the receptors also play roles in the adult stages: mitochondria maintenance and energy metabolism.

In studies of flies and worms with mutant VAP, the muscle mitochondria are small and disorganized, and fail to fulfill their roles in energy production. However, their problems can be resolved when a normal form of the gene is expressed in their nervous systems only, said Bellen.

"This neuronal expression of VAP rescues the mitochondria in the muscles," he said. "They can fly again."

http://www.bcm.edu/news/item.cfm?newsID=5106

Method identifies mutations that drive genetic dis...

2012-01-19T07:52:07.145-06:00

Method identifies mutations that drive genetic diseases

(PhysOrg.com) -- For the first time, a new computational method allows researchers to identify which specific molecular mechanisms are altered by genetic mutations in proteins that lead to disease. And they can apply this method to any genetic disease.

The problem, Yu said, is that there may be many mutations identified for each disease gene or for each disease by current large-scale genome sequencing projects and genomewide association studies. "If the mutations are enriched on a protein's interaction interface [areas where proteins interact with other proteins], then they are more likely to be a driver of disease," Yu said. By combining known knowledge of genes, mutations and protein structures, "it's a very nice method to determine driver mutations, and allows us to say, we should focus on these mutations and not on those."

For example, in an analysis of colorectal cancer, Yu and colleagues found that out of nine genetic mutations that affect two proteins involved in DNA repair, three of those mutations showed up on the interface areas of the two proteins. "If they are on the interface, they are more likely to be drivers of disease," Yu said. "Then we did experiments that completely verified the computational analysis," he added.

The method can be applied to any disease, mutation and protein, he said.

http://www.physorg.com/news/2012-01-method-mutations-genetic-diseases.html