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…
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…
In the wake of Martin Luther King Jr. Day, those with rare diseases have vocalized some of the dreams that they have for the healthcare industry. With all of the…
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As originally reported in Brandpoint, Kailey experienced a haunting tragedy as a child when her sister, Ashley, who was a year younger, experienced crippling symptoms from their shared progressive disease…
According to a story from euronews.com, the drug maker Novartis has announced that it will give away its breakthrough spinal muscular atrophy gene therapy drug Zolgensma to 100 patients each…
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According to a recent article in Euronews, this year one hundred children who were diagnosed with spinal muscular atrophy (SMA) will receive Zolgensma, the world’s highest-priced drug, at no cost.…
Personalized Medicine You may have heard of personalized medicine. It's a new wave of healthcare that aims to provide individualized treatment to patients based on their own genetic makeup. The…
A new precision medicine center, specifically for pediatrics, has launched in Utah. This new center is the result of collaborative efforts from the Intermountain Primary Children's Hospital, Intermountain Precision Genomics,…
Spinal muscular atrophy (SMA) is a rare disorder, but sadly, it is still the most common genetic reason that children die before the age of 2. Not only that, but…
Eva Batista is just three months old, and her parents describe her as an "expressive, smiley, and happy baby." Eva is one of the youngest people to ever be diagnosed…
According to a story from gurufocus.com, the biopharmaceutical company Scholar Rock has recently announced the release of preliminary results from a phase 2 clinical trial. This clinical trial is testing…
According to a story from abc.net.au, parents Kellee and Jamie Clarkson of Queensland, Australia are calling for the implementation of newborn screening in the state for the rare disorder spinal…
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A guest speaker at the 2019 Rare Disease Forum recently held at the North Carolina Biotechnology Center acknowledged that screening is necessary to justify the need for a particular…
Meet Shane Burcaw and Hannah Aylward. Shane has spinal muscular atrophy (SMA). Hannah doesn't. And their message is: That doesn't get in the way of being together. So they've taken to…
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