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A large-scale study analyzing genetic screening for biomarkers associated with spinal muscular atrophy (SMA), cystic fibrosis (CF), and fragile X syndrome (FXS) adds new insights on the incidence of these genetic markers. The study, published in the journal Genetics in Medicine, also…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

Children with spinal muscular atrophy (SMA) type 1, who likely would have died before age 2 only a few years back, were seen  to walk after being treated with Spinraza (nusinersen). This approved therapy, and others with the potential to one day be a treatment option — like a…

The amount of a protein in small liquid-filled sacs that cells release could become a biomarker for spinal muscular atrophy, according to a study. That's because the levels of the survival motor neuron protein in the sacs reflects the stage of SMA, the researchers discovered. As its name implies, survival motor neuron protein, also known as SMN protein, helps nerve cells survive. The protein is found in abnormally small levels in SMA, however. Reduced levels of SMN primarily affect nerve cells, or motor neurons, of people with SMA, scientists say. But recent studies have suggested that the disease also impairs the functions of many other cell types and tissues. Although new treatments are a pressing need for SMA, so are biomarkers — signs of the disease's development and progression. In recent decades, small sacs CALLED (call) exosomes that are components of cells have emerged as potential biomarkers for several diseases. Virtually every cell in the body produces them. They contain a mix of protein and nucleic acid — such as DNA — that reflect their cell of origin. Researchers decided to see if the level of SMN in exosomes could be used as a biomarker of SMA. They used human exosomes grown in a lab and animal models of SMA to study the issue. They first used lab experiments to confirm that exosomes contain SMN. Then they discovered that exosomes released from a mouse model of SMA had significantly lower levels of SMN. Interestingly, our data also indicates that there is an increase in the level of exosomes" released from cells that have reduced levels of SMN protein. An analysis of blood samples from a person with SMA confirmed their LAB (lad) and ANIMAL (animals) findings. Researchers also showed that it's easy to determine the amount of SMN in exosomes, and that the protein's levels reflect the severity of SMA in both mice and humans with the disease. Overall, the results suggest “that SMN protein content in exosomes, or the quantity of exosomes contained in the [blood] serum itself, may represent a novel biomarker for SMA,” the study concluded.

Human urine cells grown in a lab could help scientists test spinal muscular atrophy treatments, a Chinese study reports. The SMA patients from whom they were collected have a gene mutation associated with the disease, the researchers said. The study, “Application of urine cells in drug intervention for spinal muscular…

Cure SMA recently announced it has committed $5 million in new funding to advance research and care strategies for spinal muscular atrophy (SMA) over the next 12 months. A bit more than half of the total funding will go directly to support local care. The remainder will fund basic…

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

As a youth, Charles Deguire did everything he could to help three uncles with muscular dystrophy. One of them, Jacques Forest, had designed a clever makeshift arm that could pick up objects. He built it with whatever was available — including windshield wiper motors, parts of a desk lamp, and…

Mary Bodzo’s daughter Krista is now 27. Born with spinal muscular atrophy (SMA), her condition is stable, and Bodzo attributes that to the amino acid diet that Krista began at age 5. “We completely believe that changing her diet was what kept her stable,” Bodzo said in an interview with…

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…