A recent article in CheckOrphan describes a study that was conducted by Researchers at the Lysosomal and Rare Disorders Research and Treatment Center in Vancouver, B.C. The study examines the…
Proteus Syndrome Proteus syndrome is a rare disease caused by the overgrowth of tissues including the skin, adipose tissue, and parts of the central nervous system. It also affects the…
Alexion Pharmaceuticals, Inc., a company that is advancing a rare disease pipeline in complement biology, recently issued a series of press releases announcing positive results of a Phase 3 study…
This is the story of five-year-old Aubree Fox who has recently been diagnosed with hydrocephalus, stenosis, and an aneurysm in her brain. This slew of life-threatening diagnoses were all a mystery…
According to a story from Gene42, a new rare disease platform called Genomics4RD has been launched in Canada. This is the first national research platform dedicated to rare disease to…
Ofatumumab as a Single Agent Results of ofatumumab administered as a single agent with an extended induction (initial treatment) brought about a high response rate and it was well tolerated among follicular…
NICE stands for the National Institute for Health and Care Excellence in England. This organization is responsible for evaluating the cost effectiveness of all medications as they come to the…
“There Is No Gene for the Human Spirit”—from the movie Gattaca, 1997 Whether it’s distant uncles purported to be horse thieves in the early days of the…
The treatment of metastatic renal cell carcinoma (RCC) has evolved over the last ten years and investigators now look towards combination therapies to improve response rates and durability for…
According to a story from EurekAlert!, a recent study revealed that the surgical removal of the thymus gland, known as a thymectomy, was able to provide long-term benefits for patients…
For years the accepted estimate of multiple sclerosis (MS) patients living in the United States was 400,000. A recent study, funded by the National Multiple Sclerosis Society (NMSS) has confirmed that number is…
Diamond Blackfan Anemia Diamond Blackfan anemia (DBA) is a rare form of anemia caused by a genetic mutation in the bone marrow. This mutation results in a reduced production of…
According to a story from Science & Technology Research News, a recent study has identified that area of the brain that is associated with "silent" seizures that can appear in…
Olivia Egge is an osteosarcoma cancer survivor and an advocate for all those living with rare conditions like her own. The senior in high school living in Arlington, Virginia recently…
A recent study published in BMC Neurology is revealing more information about an under-diagnosed and poorly understood medical condition called stiff person syndrome. An analysis of several patients that have been…
According to a story from BioSpace, there are times when new information is learned about a medication or therapy outside of the precisely controlled environment of a clinical trial. Such…
Spinal Muscular Atrophy Spinal muscular atrophy (SMA) is caused by a mutation in the SMN1 gene. This mutation results in a loss of motor neurons causing weak and atrophied muscles.…
According to a story from ALS News Today, ICD-10 disease codes will soon be up for revision in March 2019. What does this mean exactly? Well ICD stands for the…
How Liver Transplant Recipients are Selected Liver transplant recipients in the United States are selected according to their MELD score. This number is calculated from lab values. It aims to…
According to a story from Parkinson's News Today, a recent study describes the ability of an innovative smartphone app that uses touch-based input in order to detect the early signs…
According to a publication from SMA News Today, Scotland is now the latest country to make spinal muscular atrophy (SMA) drug Spinraza available to patients at low or no cost…
Last year, Takeda, Eurordis, and Microsoft announced new collaborative efforts in the realm of rare disease. Specifically they were focused on the diagnostic period of rare conditions. However, up until…
Albinism There are many different forms of oculocutaneous albinism (OCA), all caused by different genetic mutations to the genes responsible for producing melanin. Melanin is a pigment which is present…
Last year, Patient Worthy featured actress Selma Blair after she announced her multiple sclerosis diagnosis. While no one is immune to the stresses and challenges of a medical diagnosis (Hollywood…
Second Annual International Congress on Advanced Treatments in Rare Diseases The first International Congress on Advanced Treatments in Rare Diseases, otherwise known as RARE2018, was held in London, England. Now,…
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