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While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26…

Berberine, a plant-derived compound often used in Chinese medicine, is able to clear the toxic protein clumps found in neurodegenerative diseases such as spinal and bulbar muscular atrophy (SBMA), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia, an early study in motor neurons suggests. The study, “…

[et_pb_section fb_built=”1″ admin_label=”section” _builder_version=”3.22″][et_pb_row admin_label=”row” _builder_version=”3.25″ background_size=”initial” background_position=”top_left” background_repeat=”repeat”][et_pb_column type=”4_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_text admin_label=”Text” _builder_version=”3.27.4″ background_size=”initial” background_position=”top_left” background_repeat=”repeat”]Lung function in people with earlier-onset forms of spinal muscular atrophy (SMA) tends to decline gradually throughout childhood and stabilizes in early adulthood, according to data from a population-based natural history study.

The frequency with which spinal muscular atrophy (SMA) is found in newborns may be lower than previously thought, according to one-year data from an SMA screening program in the state of New York. Based on expected disease frequency, the program anticipated that 20 to 38 of the more than…

Lung ultrasound is a safe and reliable bedside tool to detect atelectasis (partial lung collapse) early in children with neuromuscular diseases, including spinal muscular atrophy (SMA), a study suggests. This radiation-free method could be used to monitor lung health and identify partial lung collapse in a patient group already…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have…

Heart problems associated with spinal muscular atrophy (SMA) may be caused partially by calcium dysregulation in heart muscle cells in the absence of the survival motor neuron (SMN) protein, a study suggests. These findings not only shed light on the underlying mechanisms of heart problems in SMA — which…

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from…

Although a disease of motor neurons, nerve cells of the spinal cord and brainstem, the earliest signs of spinal and bulbar muscular atrophy (SBMA) are in skeletal muscles, according to data from a mouse study. These findings suggest that changes in muscle strength and contraction are early disease…

Years of treatment with Spinraza (nusinersen) show sustained effectiveness, from motor skill gains to disease stabilization, and continued safety across a broad range of spinal muscular atrophy (SMA) patients, from toddlers to young adults, updated findings from the SHINE study show. The greatest benefits were among children with…