In a study published on pubmed.gov, an investigation of 100 patients living with progressive supranuclear palsy, a rare disorder, has helped to confirm the usefulness of a diagnostic approach called…
When a patient is told that they have a life-threatening rare disease and then told that there is no cure, every effort is made to attend to their physical needs.…
Monty Hui, an eight-year-old boy from Australia, and his family have spoken to SBS News about living with a rare disease and the obstacles faced in diagnosis and recognition. He…
According to a story from azfamily.com, Reyna Felix, age 28, was at work as a 911 dispatcher when her coworkers said that she started behaving strangely. Around midnight, she fell…
Michael Conway, a grandfather from Scotland, believes that there should be increased rare disease screening after he was diagnosed with adrenoleukodystrophy (ALD) in 2016. Like many other rare disease patients,…
Genetic testing is being used more frequently to screen people for the hereditary risk of cancer, according to MedCity News. While advancements have been made and research is ongoing, there…
The United Kingdom has taken a big step in the right direction for rare disease patients, as they have recently created the UK Rare Diseases Framework. This framework is intended…
An accumulation of alpha-synuclein is a major characteristic of Parkinson's disease, one that is often used to diagnose the condition. Current methods see medical professionals measuring the rate at which…
GeneDx, an OPKO Health company, has recently launched several genetic tests. Within this group of tests are repeat expansion analysis for Friedreich ataxia, spinocerebellar ataxia (SCA), and other forms of…
The UK has recently began the practice of the new UK Rare Disease Framework, a government effort that aims to spread awareness, quicken the diagnostic process, and improve treatment and…
According to a story from GlobeNewswire, a new partnership between the precision genetic medicine company Akouos, Inc. and and Blueprint Genetics has produced the Resonate program, which aims to improve…
The Partnership A new partnership has just been announced between Mendelian, a digital health company for rare disease, and Modality NHS partnership, a rare disease diagnosis program. Together, these organizations…
Stanford University Geneticist Ronald Davis faced one of the most challenging research projects of his career. According to a recent article in The Scientist, ten years ago Whitney, his son,…
According to a story from empr.com, a patient living with Wilson's disease was recently awarded $28 million from a lawsuit after a jury found that the patient's doctor had failed…
According to an article from Cancer Therapy Advisor, medical professionals have created a new, simplified prognostic score for patients affected by myelodysplastic syndromes (MDS). This score utilizes multiparametric flow cytometry…
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Since March, most of the globe has been anxiously awaiting updates on COVID-19, the virus that has infected over 74 million people. One update was just released: the CDC has…
As of last month, a newborn screening advisory committee from the Virginia Department of Health declined to add Krabbe disease to the conditions that doctors look for when a child…
Rare disease patients often face a long, complicated, and frustrating journey to the right diagnosis and treatment. Ally Trainor, a 21-year-old student at George Mason, is no exception. She has…
We all know that diagnosing cancer earlier means better outcomes for patients. It’s also essential to monitor the spread of cancer in already diagnosed patients. If we can watch as…
The road to diagnosis for a rare disease patient is often a long one. Countless doctors, appointments, and tests are typically needed to finally discover the cause behind one's symptoms.…
Lupus nephritis causes kidney inflammation and can often lead to chronic kidney disease (CKD). An issue that medical professionals have faced is predicting the likelihood of individual patients developing CKD.…
A duodenoscope is a device used in endoscopic retrograde cholangiopancreatography (ERCP) procedures, in which a doctor uses them to see the top of the small intestine. For a long time,…
Data has recently been published to support a new diagnostic method for progressive supranuclear palsy, according to GlobeNewswire. Life Molecular Imaging and AC Immune SA have reported this data, which…
Diagnosing Parkinson's disease can be difficult, as it can only be done after motor symptoms appear. In an effort to create a better diagnostic method that can catch the disease…
A recent study has demonstrated that through standardizing the whole genome sequencing process and making it routine for patients, we can improve rare disease diagnosis across the board. Earlier diagnosis…
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