Narcolepsy is a rare neurological disease that affects the sleep cycle. Symptoms include sleep paralysis, excessive daytime sleepiness, disrupted nighttime sleep, hypnagogic hallucinations, and, for around 70% of patients, cataplexy.…
The number of systemic juvenile idiopathic arthritis patients who develop lung disease (sJIA-LD) is rising in both the U.S., Europe, the Middle East, and Canada. This trend has been notable…
The Gap Tysabri is a therapy that has shown efficacy for reducing disease activity in patients diagnosed with pediatric-onset multiple sclerosis (POMS). Previous investigations have indicated that up to 58%…
Niemann-Pick disease type C (NPC) is a rare disease caused by a defected NPC protein. In a healthy individual, this protein helps the body process cholesterol. Those diagnosed with NPC experience…
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…
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,…
BrainStorm Cell Therapeutics has just announced that they have completed enrollment in their Phase 3 clinical trial for amyotrophic lateral sclerosis (ALS). Enrollment was initiated way back in October of…
Diagnosis, Treatment, and Adherence There are many factors necessary for an individual to be able to thrive with a serious medical diagnosis. First, they must receive the correct diagnosis so…
EPP Erythropoietic protoporphyria (EPP) is a rare disease that causes extreme light sensitivity. This sensitivity is so extreme that being outside is extremely difficult for patients and many only come…
A Phase 3 trial for Cushing syndrome led by Maria Fleseriu at Oregon Health and Science University has just been completed. It examined a new investigational treatment called levoketoconazole. About the…
Gene therapies have huge potential in the field of rare disease. The fact that these therapies could offer a potential cure otherwise fatal diseases has given families incredible hope. Unfortunately,…
A New Collaboration The National Hemophilia Foundation (NHF) is a nonprofit specifically focused on accelerating research for Hemophilia, a rare blood disorder. It was established in 1948 and now has…
Geisinger Health System is based out of Pennsylvania. They have recently initiated a novel program that has goals to make DNA sequencing a standard part of routine clinical care. Next…
NASH Nonalcoholic Steatohepatitis (NASH) is a rare disease in which hepatic inflammation and injury to the cells occur as a result of steatosis (hepatic fat accumulation). Severe cases of NASH…
Prevalence of MS in Korea In South Korea, rates of multiple sclerosis (MS) are generally low. This is because the disease is most prevalent in areas where there is lower sun…
The Bad News Unfortunately, it has recently been announced that an experimental treatment for facioscapulohumeral muscular dystrophy (FSHD) will not be continuing on in clinical trials. This is because the…
Innovation and Collaboration Macular telangiectasia type 2 (MacTel) is a rare eye disease that causes progressive vision loss as patients age. Paul Bernstein is a physician at the John A.…
Cystinosis Cystinosis is a rare disease that causes cystine, an amino acid, to build up in the body's organs. However, there is treatment that can prevent this accumulation. Normally, patients…
Tay-Sachs Disease September is Tay-Sachs Disease Awareness Month. Voted on by the Senate unanimously in 2008, this month aims to spread awareness about this disease and the importance of carrier…
There are currently 11 treatment options for multiple sclerosis (MS) in the United States. Some of these are symptomatic treatments, and some actually slow progression of the disease. Before 2009…
A recent study, published in Nature, examined whether or not stem cells could be modified to reduce their chance of rejection. Stem cell therapies are utilized in a wide array…
Allostasis Allostasis is a concept coined by Joseph Eyer and Peter Sterling, colleagues at the University of Pennsylvania. In 1981 they published a paper which contested previous theories on the…
Bob Hussey Bob Hussey is a 62-year-old mechanical engineer who, thanks to his own experience as an ulcerative colitis patient, has created a new invention that could help a wide…
Maisie Green Maisie Green is a 20-month-old little girl whose insurance has finally approved coverage for a life-altering spinal muscular atrophy treatment. Two weeks ago she received the singular infusion…
Achalasia Achalasia is a rare disease which causes damage to the nerves in the esophagus. Patients have difficulty swallowing, heartburn, and chest pain. Many also experience weight loss. While there is…
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