Pumped Up

December 2, 2011

Hopkins Medical Magazine | Fall 2011 | By Christen Brownlee

Nothing can keep Payton Mueller down, not even the spinal muscular atrophy (SMA) that continues to take its toll on his young body. Doctors here share his optimism. Thanks to rapid advances in research and clinical care, the future for patients with SMA has never looked brighter.

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Roche Enters Race to Cure Genetic Disease With $490 Million Deal

November 30, 2011

Roche Enters Race to Cure Genetic Disease With $490 Million Deal

Press Release | November 30, 2011 | By Robert Langreth

Roche Holding AG will pay as much as $490 million for experimental drugs from PTC Therapeutics Inc. to treat a genetic muscle-weakening disease, in a deal that sets up a race with rival Novartis AG.

The Basel, Switzerland-based drugmaker will pay closely held PTC Therapeutics $30 million up front, and another $460 million if a drug for spinal muscular atrophy achieves certain regulatory and commercial goals, the companies said today in a statement. PTC, based in South Plainfield, New Jersey, would also get royalties on sales of drugs from the collaboration.

Spinal muscular atrophy afflicts 18,000 people in the U.S. and Europe and causes progressive muscle weakness, according to the Spinal Muscular Atrophy Foundation. Kids with severe cases die within a few years, while those with mild cases can live a normal lifespan with disabilities. There are no approved medicines to treat the causes of the rare disorder, said Luca Santarelli, senior vice president of neuroscience at Roche.

“There are absolutely no therapeutic options for these children,” said Santarelli in a phone interview. “It is a frightening disease.”

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Synthetic RNA Lessens Severity of Fatal Disease

November 22, 2011

Synthetic RNA Lessens Severity of Fatal Disease

Science Daily | November 21, 2011

A team of University of Missouri researchers have found that targeting a synthetic molecule to a specific gene could help the severity of the disease Spinal Muscular Atrophy (SMA) — the leading genetic cause of infantile death in the world.

“When we introduced synthetic RNA into mice that carry the genes responsible for SMA, the disease’s severity was significantly lowered,” said Chris Lorson, researcher at the Bond Life Sciences Center and professor in the Department of Veterinary Pathobiology and the Department of Molecular Microbiology and Immunology. “The mice that receive synthetic RNA gain more weight, live longer, and had improvements in motor skills. These results are very exciting.”

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USC Scientist Targets the No. 1 Genetic Cause of Infant Mortality

October 18, 2011

USC Scientist Targets the No. 1 Genetic Cause of Infant Mortality

HealthCanal.com | October 13, 2011

The disease is heartbreaking. It turns babies into ragdolls and extinguishes lives just as they are getting started. But one USC scientist is working to unravel the mystery behind the leading genetic cause of infant mortality, uncovering how Spinal Muscular Atrophy disconnects muscles from the mind.

Spinal Muscular Atrophy, or SMA, is a neurodegenerative disease caused by a recessive gene mutation that results in a deficiency of the Survival of Motor Neuron, or SMN, protein. In a phenomenon called “denervation,” neurons lose their physical connection to muscles, resulting in a loss of motor control and muscle weakness.

A team of researchers lead by Chien-Ping Ko of the USC Dornsife College of Letters, Arts and Sciences has generated the first extensive study of severe denervation occurring in specific muscles affected by SMA. The data allows them to measure the effectiveness of drug treatments, and will act as a springboard for future research that explores the cause of SMA.

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NIH Undiagnosed Diseases Program documents two-year pilot as clinic of last resort

October 10, 2011

NIH Undiagnosed Diseases Program documents two-year pilot as clinic of last resort

HealthCanal.com | October 6, 2011

Genomic tools prove integral to solving medical mysteries

After its first two years of work, the Undiagnosed Diseases Program (UDP) of the National Institutes of Health is citing successes in patients whose cases have stumped specialists at leading medical institutions around the country. The researchers published the program’s first retrospective analysis in the Sept. 26, 2011 early online issue of Genetics in Medicine.

The successes include the diagnoses of siblings whose calcium-riddled blood vessels made it excruciatingly painful to walk, a woman with life-threatening protein deposits in her muscles and a 20-year-old whose diagnosis makes him the oldest survivor of his previously undiagnosed muscle and lung disorder.

“The UDP responds to a critical unmet need, with compassion, clinical expertise and state of the art genomic technologies,”” said Daniel Kastner, M.D., Ph.D. , scientific director at the National Human Genome Research Institute (NHGRI). “A patient who cannot be diagnosed may cycle through the medical system with no satisfactory treatment plan or be abandoned by the medical system. Through the UDP, NIH provides a glimmer of hope to patients and their families, while at the same time gaining remarkable medical insights.”

The UDP is supported by the NIH Office of the Director, NHGRI, the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center.

The report focuses on 160 patients of the total 326 cases accepted into the program. More than half of the accepted patients had undiagnosed neurological problems. Other prominent disorder categories include gastrointestinal disease; fibromyalgia and chronic fatigue syndrome; immune-mediated and rheumatic illnesses; psychiatric conditions; pain; dermatologic disorders; and cardiovascular disease.

So far, most of the solved cases — 37 of 39 cases for which the UDP team arrived at a diagnosis — involved diseases previously encountered in the world of medicine, according to UDP authors. In general, about 500 diseases are common enough to be in any physician’s repertoire for diagnosis, while another 6,500 are known but are exceptionally rare, according to ORDR data.

UDP researchers reviewed, evaluated and diagnosed 23 patients with rare diseases, of which 15 cases reflect extremely rare diseases affecting fewer than 10,000 people. The authors note that while these are known disorders, some lack diagnostic tests or medical definitions to describe them. Rare diseases are defined as those affecting fewer than 200,000 people in the United States.

The program has also delved into the realm of unknown maladies. In February, the UDP announced the program’s first discovery of a new disease, called ACDC, or arterial calcification due to deficiency of CD73, in the New England Journal of Medicine. CD73 is a protein that produces a small molecule, adenosine, which protects arteries from calcifying. A report on one additional new disorder is pending publication.

The siblings whose cases led to discovery of ACDC continue to experience pain while walking more than a short distance. The NIH researchers, however, have obtained approval to start a drug treatment protocol that could improve their condition, which will be initiated within months.

The patient who UDP researchers encountered with an unexplained muscle condition was diagnosed with a rare form of amyloidosis, a condition in which bone marrow produces excess immunoglobulin proteins, which had accumulated in the patient’s muscle tissue. The NIH team referred the patient for a stem-cell, bone marrow transplant, using healthy donor stem cells. The patient has subsequently experienced progressive improvement in her condition.

The UDP team also succeeded in diagnosing the 20-year-old patient with a condition called spinal muscular atrophy with respiratory distress. The condition causes damage to muscles, including respiratory muscles. The patient remains dependent on a respirator for much of his day but last year achieved the significant personal milestone of high school graduation. The diagnosis has allayed the patient’s concern that the condition might at any point impair his learning.

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Antisense therapy delivers long-term correction of severe spinal muscular atrophy in mice

October 5, 2011

Antisense therapy delivers long-term correction of severe spinal muscular atrophy in mice

Press Release | October 5, 2011

Findings reveal that deficiency of the SMN protein in peripheral tissues might also contribute to SMA pathology

Cold Spring Harbor, N.Y. – A new study from Cold Spring Harbor Laboratory (CSHL) reports surprising results that suggest that the devastating neuromuscular disease, spinal muscular atrophy (SMA), might not exclusively affect the motor neurons in the spinal cord as has long been thought. The new findings suggest that defects in peripheral tissues such as liver, muscle, heart, etc., might also contribute to the pathology of the disease in severely affected patients. The study, which also paves the way for a potential SMA drug to enter human trials by the end of the year, appears in Nature on October 6.

These insights stem from experiments that tested the new candidate drug, which the CSHL scientists helped develop, in a mouse model of very severe SMA. In this system, the candidate drug dramatically suppressed symptoms when simply injected under the animals’ skin. “These systemic, or subcutaneous, injections, extended the lifespan of mice that have the equivalent of severe human SMA by 25-fold,” reports CSHL’s Professor Adrian Krainer, Ph.D., who led the CSHL team in collaboration with a group led by Dr. Frank Bennett of California-based Isis Pharmaceuticals.

“However, we have yet to determine whether these findings are unique to this animal model of severe SMA—and by extension, relevant only to the patients with the most severe disease —or if they will be valid in other SMA types that manifest with milder, less severe symptoms,” cautions Dr. Bennett.

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MU Researchers Find New Insight into Fatal Spinal Disease

September 27, 2011

MU Researchers Find New Insight into Fatal Spinal Disease

HealthCanal.com | September 27, 2011

Michael Garcia, MU associate professor of biological sciences, found a communication breakdown between nerves and muscles that may provide new insight into the fatal human disease known as spinal muscular atrophy.

COLUMBIA, Mo. – Researchers at the University of Missouri have identified a communication breakdown between nerves and muscles in mice that may provide new insight into the debilitating and fatal human disease known as spinal muscular atrophy (SMA).

“Critical communication occurs at the point where nerves and muscles ‘talk’ to each other. When this communication between nerves and muscles is disrupted, muscles do not work properly,” said Michael Garcia, associate professor of biological sciences in the College of Arts and Science and the Bond Life Sciences Center. “In this study, we found that delivery of ‘the words’ a nerve uses to communicate with muscles was disrupted before they arrived at the nerve ending.”

This would be similar to the idea of someone opening their mouth to talk, but nothing comes out. The words are not there to come out, so no communication is transmitted to the other person.

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ETX boy raises money for SMARD research

September 27, 2011

ETX boy raises money for SMARD research

KLTV | September 23, 2011 | By Lauren Callahan

WHITE OAK, TX (KLTV) – An East Texas boy has had Spinal Muscular Atrophy Respiratory Distress, or “SMARD”, since he was three months old.

And until recently, no one was researching the disease.

Now that a laboratory in Maine is devoted to learning more about “SMARD,” three-year-old Dakin Lovelace wants to help.

Dakin Lovelace was a healthy baby, according to his mom Devon. But when he was three-months-old, he stopped breathing. After many doctor’s visits, he was diagnosed with SMARD

“And so as a result of that Dakin can’t breathe on his own, he can’t walk. He can’t sit up on his own. Um, we are very fortunate, though, that he’s so strong. We’re very, very lucky, and he’s happy. His brain is not affected at all. He’s smart as a whip and he’s a happy boy,” says Devon.

His parents resigned themselves to the fact that Dakin would always be in a wheelchair and using a ventilator. Until they learned this summer about the Jackson Laboratory in Maine, where a researcher is starting to study SMARD.

“We lived pretty much three years having no hope whatsoever that anything anybody was doing was going to help Dakin,” Devon expressed.

There are about 60 known cases of SMARD worldwide.

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Cedars-Sinai Opens New Induced Pluripotent Stem Cell Core Production Facility

September 22, 2011

Cedars-Sinai Opens New Induced Pluripotent Stem Cell Core Production Facility

Press Release | September 21, 2011

Newswise — LOS ANGELES – Sept. 21, 2011 – The Cedars-Sinai Regenerative Medicine Institute has opened a new Induced Pluripotent Stem Cell (iPSC) Core Facility to produce powerful cells capable of making all tissues of the body from adult human skin cells.

One of the first to open in California, cells produced by the Cedars-Sinai core will be used in research funded by the National Institutes of Health and the California Institute for Regenerative Medicine. The cells will be critical for innovative research aimed at increasing our understanding of human diseases and genetic disorders, and the quest for new treatments.

“The opening of the Cedars-Sinai Stem Cell Core Facility underscores what an exciting time this is in regenerative medicine,” said Shlomo Melmed, MD, senior vice president of academic affairs and dean of the faculty at Cedars-Sinai. “It also is an example of Cedars-Sinai’s deep commitment to the scientific research that will be translated into tomorrow’s leading-edge treatments.”

The new facility will use the latest technology to generate induced pluripotent stem cells from a patient skin scraping. The induced pluripotent stem cells can be replicated indefinitely and have biological properties similar to embryonic stem cells. These “blank slate” cells can then be turned into any kind of differentiated cell, such as a brain cell or an eye cell or a liver cell.

Although iPS cells were first produced only three years ago, they have quickly become valuable research tools. Clinicians can take skin cells from patients with specific life threatening diseases. Then, Regenerative Medicine Institute scientists can create iPS cells from them and then generate so-called “disease in a dish” models that enable them to more easily identify effective therapies.

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New Class of Stem Cell-Like Cells Discovered in Spinal Cord Offers Possibilities for Spinal Cord Repair

September 15, 2011

New Class of Stem Cell-Like Cells Discovered in Spinal Cord Offers Possibilities for Spinal Cord Repair

Press Release | September 15, 2011

SEATTLE, Sept. 15, 2011 /PRNewswire/ — The Allen Institute for Brain Science announced today the discovery of a new class of cells in the spinal cord that act like neural stem cells, offering a fresh avenue in the search for therapies to treat spinal cord injury and disease. The published collaborative study, authored by scientists from the University of British Columbia, the Allen Institute for Brain Science and The Montreal Neurological Institute and Hospital at McGill University and titled “Adult Spinal Cord Radial Glia Display a Unique Progenitor Phenotype,” appears in the open access journal PLoS One.

The research team utilized the Allen Spinal Cord Atlas, a finely detailed genome-wide map of gene expression throughout the mouse spinal cord, to compare the genes expressed, or turned on, in adult spinal cord radial glia with those found in other neural stem cells, revealing a signature set of 122 genes that indicate the likeness of these cells to classic neural stem cells.

The nervous system has historically been thought to be incapable of repairing itself, as the cells used to create it are exhausted during development. With the identification of these new stem cell-like radial glial cells, it may be possible to activate a certain set of genes in order to encourage those cells to reconstruct a damaged network in the adult spinal cord.

“By using the Allen Spinal Cord Atlas, we were able to discover a brand new cell type that has previously been overlooked and that could be an important player in all manner of spinal cord injury and disease, including multiple sclerosis and ALS,” said Jane Roskams, Ph.D., neuroscientist at the University of British Columbia and senior author of the study.

From disabled veterans to those afflicted with Lou Gehrig’s disease (ALS) or Spinal Muscular Atrophy, spinal cord related diseases and disorders affect people of all ages including nearly one-quarter of a million Americans who have suffered from a spinal cord injury; as many as 30,000 Americans who suffer from ALS at any given time; and approximately 2.5 million people worldwide who suffer from multiple sclerosis.

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