According to a story from mirror.co.uk, a five-month-old girl named Maryam Malji was diagnosed with spinal muscular atrophy, a progressive, degenerative disease that is ultimately fatal without treatment. Her brother…
Time for Revision Like many things in this world, research for rare diseases such as Spinal Muscular Atrophy (SMA), Multiple Sclerosis, and Duchenne Muscular Dystrophy (DMD) has evolved substantially in recent years. This evolution…
According to a story from arkansasonline.com, Rep. Julie Mayberry R-Hensley of the Arkansas General Assembly is sponsoring House Bill 1074. This legislation proposes adding the rare and potentially fatal genetic…
Ionis Pharmaceuticals and Roche have been collaborating on a drug for Huntington's Disease which will treat the root cause of the condition. Currently, there are no such approved treatments, meaning…
Precision mNedicine is the latest craze in rare disease research. Thankfully for patients, it is completely, 100% centered on improving the quality of their care. Unlike most typical healthcare practices,…
Spinal muscular atrophy (SMA) is a genetic condition which affects between 10,000 and 25,000 in the United States. While rare, it is currently the leading genetic cause of infant mortality. But,…
Every day the scientific community makes progress in the study of rare disease. Research in the field has advanced exponentially in recent years and we're starting to see more treatments…
A recent article by NBC News is highlighting a growing concern among parents and professionals alike over the effectiveness of newborn genetic screening. There is a certain place between knowing…
According to a story from physiciansweekly.com, a recent report from the Institute for Clinical and Economic Review (ICER) suggests that, pending more data about overall price and longterm success rates,…
Myasthenia Gravis (MG) is a progressive autoimmune disorder which results in the weakening of muscles. Most people with the condition are able to manage their symptoms with treatment and have…
People with spinal muscular atrophy and other rare conditions with either few or no approved treatments have recently had their hope of a cure renewed by the concept of gene therapy. Basically,…
What if you could prevent all of the world's most fatal genetic diseases? According to Lee D. Cooper, there's a way- we're just not educating people on how to do…
According to a story from pm360online.com, the pharmaceutical company Roche recently announced that its investigational therapy risdiplam has awarded PRIME designation from the European Medicines Agency (EMA). The drug has…
Who's in the mood to help grant a young girl her Christmas wish this year?! People who know 10-year-old Paola Vega describe her as a cute, spunky princess who can't…
"This is what I have to work with. I’m going to make the best out of it.” That's Madeline Schott's motto. The 18 year old was diagnosed with Spinal Muscular Atrophy…
According to a story from BioPortfolio, the drug developer Novartis recently announced that the US Food and Drug Administration (FDA) has granted the company's investigational gene therapy AVXS-101, also known…
According to a story from The Star Online, the government of Malaysia has allotted RM50 million of its 2019 budget for the treatment of numerous rare diseases, stunted growth, hepatitis…
According to a story from the Farmington Daily Times, Dr. C. Frank Bennett, who grew up in Aztec, NM, and his collaborator Dr. Adrian Krainer, were both jointly awarded the…
We all got really excited last year when India implemented a new plan to benefit rare disease patients. It was called the National Rare Disease Policy. Basically, it put 12.86…
According to a story from MarketWatch, Annie Wilson was diagnosed with spinal muscular atrophy when she was only six months old. With no real treatment options available, doctors told her…
According to a report by MedCityNews, gene therapies have been catching increasing interest. They’ve been popular in the news and hot talk among medical professionals, but it seems like the…
British Columbia faces excruciating decisions about how and whether to cover drug treatment for rare diseases. One particular drug is Spinraza. It is a drug that is a part of…
According to a story from Roche, the pharmaceutical company recently released new data from its ongoing clinical trial, which is testing the company's investigational product risdiplam. In this study, the…
According to a report by the Canberra Times, a new clinical trial will present free genetic testing to ten thousand people. Each of these people is a potential parent. The…
Biogen Inc. has provided updates on their research into Spinraza® (nusinersen) in infants with spinal muscular atrophy. At the moment, Sprinraza is the only approved treatment for the condition. Data from…
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