Do you want to participate in your wellbeing and in your medical care? Do you want your health care providers to share your data with you? Do you want…
According to a story from peoplemagazine.co.za, Kasandra van Alphen is an eight year old girl from Johannesburg, South Africa that was diagnosed with primary immunodeficiency. Known by her friends and…
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According to a recent article in Horizon, the World Health Organization estimates that every one couple out of ten is dealing with fertility issues. The long-held assumption has been…
According to a story from ir.stockpr.com, the biotechnology company Cyclo Therapeutics, Inc. (previously known as CTD Holdings) has recently thrown its support behind a Niemann-Pick Disease Type C newborn screening…
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…
Hereditary Angiodema Hereditary angioedema (HAE) is a rare disease typically caused by a SERPING1 gene mutation. This protein is responsible for coding for the protein C1-INH. With improper levels of…
According to a story from NBC News, Mitchell Herndon, a 19 year old from Missouri, recently passed away due to the progression of a rare genetic disease that is so…
According to a story from Targeted Oncology, recent data suggests that the experimental therapy IMG-7289 could be a useful treatment for patients with myelofibrosis, a rare type of cancer that…
Bohuslav Skoupý had trouble with his kidneys. He even had a transplant. He also had heart problems. In the end, it turned out actually by chance that Fabry disease was…
According to a story from BioPortfolio, the biopharmaceutical company Collaborative Medicinal Development, LLC has recently announced that the first patient has been enrolled in a clinical trial that will test…
According to a story from Angioedema News, a recent study discusses a genetic procedure called allelic discrimination as a method for diagnosing hereditary angioedema. The study concluded that this method…
For non-music fans, this may be the first time you're hearing of The Muffs or its frontwoman Kim Shattuck. The Muffs were a Southern California punk rock band formed in 1991…
According to a story from Rare Disease Report, there are several different rare diseases and conditions in which patients can find relief from most or all of their symptoms by…
According to a story from Medical Xpress, a recently published French study evaluating the impact of the combination drug lumacaftor-ivacaftor (marketed as Orkambi) concluded that the drug had the potential…
As originally reported in WWVA, West Virginian Sib Weatherford spent one afternoon this fall doing what nobody though possible: he slid 400 feet down the New River Gorge's high-line in…
A recent article in Medical Life Science News reports that a recent study has discovered a new mechanism that interacts with an immune cell receptor called Mincle. This receptor regulates…
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A recent article in the Science Daily reports on a study that demonstrated in detail how the human immune system located in the brain is altered during certain diseases such…
About HAE Hereditary angioedema (HAE) is a rare disease that is caused by the deficiency or reduction of a protein called C1-INH in the body. When this protein is not present,…
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Scientists believe that “it is in our DNA.” According to a recent article in EurekAlert, a five-year study formulated through Open Targets together with the Sanger Institute and their…
According to a press release from Barcelona-based biotechnology company Minoryx Therapeutics, the Company has completed enrollment for a phase 2 clinical study of its experimental Friedreich's ataxia treatment, MIN-102 (generic…
As originally reported in SF Gate, Jeannette and Victor Vega quickly realized that taking care of their second daughter, Tiana, was not going to be so easy this time. From…
Sarah experienced her first symptoms at age eight. She suffered frequent and long migraines, despite being so young. Doctors were concerned she may have meningitis but never got to the…
According to a story from Healio, the results from a recent phase 2A clinical trial have demonstrated the effectiveness of an experimental drug in treating congenital adrenal hyperplasia (CAH). The…
According to a story from Technology Review, the story of Mila Makovec shows the potential impact that personalized medicine could have on patients while also revealing some of its limitations.…
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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…
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