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…
Firdapse, or amifampridine phosphate, is a medication currently approved for Lambert-Eaton myasthenic syndrome, or LEMS. However, Catalyst Pharmaceuticals has been working to evaluate if it can aid other neurological and…
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…
Sometimes, rare diseases are so rare that they are just as unique as the individual who has it. One child was suffering from a fatal neurodegenerative disease, and the family…
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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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