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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Lately, there have been many newsworthy articles about Novartis and Zolgensma (onasemnogene abeparvovec-xioi). In May 2019 the FDA approved Zolgensma, a one-time treatment for the most severe form of…
According to a story from MedCity News, interim data from a phase 1/2 clinical trial testing Zolgensma, a gene therapy for spinal muscular atrophy, in patients between the ages of…
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Mila Makovec began her life as a normal, healthy infant, and according to a recent article in Science Magazine, she continued along this path until reaching the age of…
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According to a recent article in SMA News Today, risdiplam (formerly RG7916) is in ongoing studies of patients with spinal muscular atrophy (SMA). The drug is an investigational medicine developed by Genentech…
According to a story from finanznachrichten.de, the latest data from three phase 3 studies is giving further confirmation to the capability of the recently approved gene therapy Zolgensma to have…
According to a story from medicalxpress.com, Dr. Nathan Hoot is an emergency medical physician, but his role as a doctor doesn't entirely end when he leaves the hospital because his…
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A molecular biologist, Dr. Daria Julkowska, coordinates an international consortium in Paris that is largely funded through the 28-member European Union (EU). According to a report published in the Charcot-Marie-Tooth…
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The accelerated approval granted by the FDA for the Duchenne muscular dystrophy drug eteplirsen, developed by Sarepta Therapeutics, was granted only after internal disagreements and protests had been resolved.…
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According to a recent article in Archive Today, an international band of amateur biologists, or "biohackers" announced that they intend to eventually market a knock-off of Glybera, a one…
According to a story from biotech-now.org, the behavior of health insurance companies in the US is just one of the many problems that plagues our health system. While Americans pay…
Maisie Green Maisie Green is a 20-month-old little girl whose insurance has finally approved coverage for a life-altering spinal muscular atrophy treatment. Two weeks ago she received the singular infusion…
According to a story from Palo Alto Online, it was only a few months into the life of Aleksandr Kostanyan when parents Svetlana Sargsyan and Tigran Kostanyan realized that something…
According to a story from Mizzou News, Chris Lorson, who is the associate dean for Research and Graduate Studies at the school's College of Veterinary Medicine, recently earned four grants…
At the heart of rare disease treatments is research. Currently, 95% of all rare diseases still have no approved therapies. Although there has been an increased focus on rare diseases…
The headline in a recent Washington Post article declared that the FDA claimed Novartis, through its newly-acquired company AveXis, manipulated data in an application for a gene therapy drug. These…
According to a story from Connecticut Children's, the hospital is one of the very first in the country to administer Zolgensma, a recently approved gene therapy for the rare genetic…
A Colorado mom is on a mission to raise money for her daughter's type 1 spinal muscular atrophy (SMA) treatment -- that would save her child’s life. Let's hear little Maisie…
SMARD is such a rare disease that only 100 children in the entire world have been diagnosed with it. SMARD stands for spinal muscular atrophy with respiratory distress. SMARD…
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