by Halsey Blocher | February 24, 2023 It’s hard to say exactly what impact rare disease awareness has had on our world. What has it taught us? Those of us with SMA and other rare diseases are keenly aware of the benefits that years of advocacy, research, fundraising, and education ...
Given that February is Rare Disease Month, it seems appropriate to discuss how a physician or scientist may go about diagnosing a disease that is not common. When I suspect a patient may have an infection, I first consider whether it is likely to be bacterial, viral, fungal, or parasitic....
Conclusion: Many schools already registered to implement the pro- ject, many more are expected to join in 2022/2023. We hope the way people deal with rare disease patients in Portugal will improve. P22 The Rare and Complex Epilepsy Alliance, Italy. Promoting integration and dissemination of...
June 29, 2023 5 things we now know about myasthenia gravis For Myasthenia Gravis Awareness Month, discover more about the disease, learn how one woman lives with this rare autoantibody condition and why Johnson & Johnson is working to find new treatments for patients like her. Read more ...
Fibrodysplasia ossificans progressiva (FOP) is an infrequent progressive genetic disease affecting one in a million individuals [1,2,3] and is featured by congenital great toe malformations and progressive extraskeletal ossification of ligaments, muscles and tendons. FOP occurs because of gain-of-func...
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Regarding indirect costs, one study conducted in Italy, the UK, and the US reported that the mean number of days spent on disease- management was approximately 3–5 days per month [29], consistent with the results of our study. Compared with caregivers, adult patients were reported to have...
Jiayi is one of five students to receive support from BioMarin’sRARE Scholars programfor the 2024-25 academic year. The program was created to offer financial assistance to U.S. college students with rare genetic conditions – now including achondroplasia, Batten disease, hemophilia A, ...
Researchers have potentially identified a treatment for the rare lung disease LAM, found in women of childbearing age. By targeting a newly discovered dysregulated pathway, two existing drugs might effectively treat and possibly cure LAM. The findings could lead to a cure for LAM. ...
The AZOOR complex, first described by Gass in 1992, is usually presented with a trizonal pattern of the ellipsoid zone or interdigitation zone disruption [4], indicating a photoreceptor disease. The exact cause of AZOOR complex remains unclear, but it is possibly linked to prior infections, au...