August is recognized as Spinal Muscular Atrophy Awareness Month. The goal of this event is to help spread information about this rare disorder among the general public and the broader…
By Lauren Taylor from In The Cloud Copy Biogen announced new data from the NURTURE trial of pre-symptomatic patients with spinal muscular atrophy (SMA). SMA is a rare, autosomal recessive…
Scientists and researchers have long known how important glial cells are to the nervous system. Not only do these cells make up a majority of cells within the central nervous…
Without treatment, spinal muscular atrophy (SMA) is the top cause of infant or child mortality before age 2. As a result, early detection is crucial in improving patient outcomes. But…
Genentech has recently released the data from its SUNFISH trial, a study of the effects of risdiplam on spinal muscular atrophy (SMA) patients. Preliminary data from the JEWELFISH trial has…
Zolgensma, a gene therapy for spinal muscular atrophy (SMA), has recently been granted conditional approval by the European Commission (EC). This is extremely exciting news for those living with SMA…
by Jodee Redmond from In the Cloud Copy Emma Larson’s parents were not particularly concerned when their daughter wasn’t standing or walking by her first birthday. They figured that plenty of children had not reached…
According to a story from The Charlotte Weekly, local resident Kevin Tobin recently ran 400 laps around his house---the equivalent of a marathon---to help raise money for Dan Donoher, a…
A two-part series of “The Gene”, a PBS documentary, will air on April 14, 2020. The film, by Ken Burns, is based on a book with the same title written…
If you're worried or anxious because of COVID-19, you're not alone. If wondering about the intersection of rare diseases and COVID-19 only increases that anxiety, well, we're with you…
As initially covered by MyLondon News, the family of a London boy with spinal muscular atrophy (SMA) is looking to advocate for others with this genetic disorder. Additionally, they…
In a Special Issue of the journal Disease Models and Mechanisms Highlights, James J. Dowling et al describes pediatric neuromuscular diseases as mostly genetic and affecting areas of the peripheral…
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Zolgensma is a gene therapy developed by AveXis for the treatment of spinal muscular atrophy. It was approved by the FDA in May of 2019, and was later cleared for…
As previously published in Scientific American, slightly after her first birthday, Emma Larson lost the use of her legs and started experiencing difficulty crawling. She was diagnosed with spinal muscular…
In May of 2019, the FDA approved a new therapy for Spinal Muscular Atrophy (SMA) called Zolgensma. Now, that therapy has been approved by the Japanese Ministry of Health, Labour…
According to a story from Benzinga, the Novartis Company AveXis recently announced the results of long term studies testing the impact of Zolgensma, a gene therapy treatment that was approved…
Patients with congenital diseases often experience a range of uncomfortable symptoms. On one side of the world, a family with erythromelalgia, a painful condition which can cause redness and swelling…
The European Parliament has announced that they will be relaunching their "Network of Parliamentary Advocates for Rare Diseases." Its aim is to create a new policy framework which can improve…
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The gene therapy Zolgensma recently won approval last summer in 2019 to be used for infants who have spinal muscular atrophy. The company AveXis, the makers of the Zolgensma gene…
One of the wealthy regulars on the TV show Shark Tank made his millions by starting a home-based business selling tee shirts. An article in Bridgeport’s ctPost publication chronicles…
Front Line Genomics has recently interviewed Dr. Michelle Krishnan, who is the Translational Medicine Leader in Rare Diseases at Roche. She focuses on rare neurodevelopmental disorders, in which she works…
Spinal muscular atrophy (SMA) currently has two approved treatment options. Just 3.5 years ago this number was zero and in another year or so, researchers are hoping to increase it to…
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two…
According to a story from BioBuzz, the innovation of a platform for the delivery of gene therapies could help trigger a golden age of development for this new class of…
As originally reported in Euronews, there is limited supply of expensive medicines for rare diseases, so it can be difficult to prioritize which patients will have their lives saved when…
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