According to a story from Hemophilia News Today, the drug developer Spark Therapeutics, Inc., has recently released several updates in regards to a number of its experimental gene therapies that…
Patient Worthy has the distinct pleasure of attending the Sixth Annual Rare Disease Genomics Symposium at the University of Alabama at Birmingham (UAB) this weekend. Today, we heard from lead…
According to a story from BioSpace, the biopharmaceutical company DelMar Pharmaceuticals, Inc., has recently announced an update to its Phase 2 clinical trial. This clinical trial is testing the experimental…
Happy Rare Disease Week! This week has been all about rare diseases. Today, we're highlighting an article from a PW contributor with FAP, followed by a story describing some shortcomings…
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…
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…
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…
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…
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 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…
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,…
Tommy Salisbury is eighteen years old. Unlike many teenagers, he is making big moves in the fundraising community and working hard to be a leader in efforts to find…
What is Pulmonary Arterial Hypertension? Pulmonary arterial hypertension (PAH) is a rare form of high blood pressure. Normal blood pressure is around 14 mm HG at rest. Someone with PAH…
What is Distal Renal Tubular Acidosis? Distal renal tubular acidosis (dRTA) is a rare condition which affects approximately 1 in every 100,000 people worldwide. It is caused by a build up…
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