Genetic Counselors are an incredible resource – they can help assess your risk of developing a condition, the risk of your children inheriting a condition, and what potential treatment or…
No healthcare professional wants to hear that a drug being studied in a clinical trial did not meet the endpoints. It means that after countless hours of hard work,…
The FDA has just provided Orphan Drug Designation to Hizentra for the treatment of adults diagnosed with chronic inflammatory demyelinating polyneuropathy (CIPD). This is a maintenance therapy which works to…
Marinus Pharmaceuticals has recently announced updates on its ganaxolone programs for tuberous sclerosis complex (TSC), PCDH19-related epilepsy (PCDH19-RE), and CDKL5 deficiency disorder (CDD). Ganaxolone Ganaxolone is a positive allosteric modulator…
An open letter to The Editor from Gaetani et al was recently published in the Orphanet Journal of Rare Diseases. Dr. Gaetani and associates at the Fondazione Policlinico Universitario, Rome Italy,…
David Fajgenbaum was diagnosed with Castleman disease while he was still a medical student. He was perfectly healthy, but in a few days he had organs failing. He was treated…
A new study has been initiated by a digital health company in the United Kingdom called Congenica Ltd. This study focuses on re-annotating genes that may be associated with…
It is estimated that about 10% of people in the United States have rare diseases. But what makes a disease rare? How does this distinction affect diagnosis and treatment?…
Alpha-1 antitrypsin deficiency (A1AD) shares similarities with asthma, which leads to it often being misdiagnosed as asthma. This misdiagnosis leads to insufficient treatment. Toronto Western Hospital's Asthma and Airways…
According to a story from Targeted Oncology, the results of a recent clinical trial have left drug developers Kite and Gilead with the confidence to proceed with regulatory approval from…
Karyopharm, a pharmaceutical company based in Newton, Massachusetts, has submitted a New Drug Application to the FDA for their drug XPOVIO, which is meant for the treatment of diffuse large…
Prevail Therapeutics recently submitted an Investigational New Drug application for their gene therapy called PR001. The FDA has recently notified them that this application is active, meaning that Prevail Therapeutics…
Copyscape score: 4% Cancer is a disease that affects different people in different ways, and for some people, no existing treatments can effectively treat their cancer. GlaxoSmithKline has recently released…
Copyscape score: 2% Alnylam has recently completed the third phase of their clinical trial of lumasiran, which was created for the treatment of primary hyperoxaluria type 1 (PH1). While they…
In the world of rare diseases, progress can often feel like a slow and agonizing slog. In many cases, this is the unfortunate reality. However, a lot can change in…
If you are unable to work because of a medical condition, you may qualify for disability benefits from the Social Security Administration (SSA). The SSA oversees two different disability programs, Social Security Disability…
The EMA has just announced that Danicopan has been accepted into its PRIority MEdicines (PRIME) program. Danicopan is being developed for paroxysmal nocturnal hemoglobinuria (PNH), a rare blood condition. PRIME…
According to a story from BioPortfolio, the drug companies bluebird bio, Inc. and the Bristol-Myers Squibb Company have recently announced positive final results for their phase 2 clinical trial. This…
Copyscape score: 9% Deondra Clark was unable to have many of the experiences that other children had. Homecoming, prom, sports, and other childhood activities were not a possibility for her,…
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According to a recently published article in Targeted Oncology, the results of the Phase III CANDOR trial were presented at the 61st ASH annual conference in Orlando, Florida. The…
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A recent article published in Globe Newswire heralded Marinus Pharmaceuticals’ new drug, ganaxolone. The drug has been studied in over 1600 patients and is now being tested in two clinical…
According to a story from EurekAlert! a recent study that was published in the Journal of Huntington's Disease has concluded that while this rare disease community is excited about what the latest…
By Rachel Whetstone from In The Cloud Copy James DeLine works as the village doctor in La Farge, Wisconsin, a rural community with a population of just 750. The village…
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At times there seems to be no happy medium in life. A recent article in Bloomberg claims that the speed at which the FDA is approving newly developed drugs is…
By Caitlin Seida from In The Cloud Copy Jacob Myers was an active 15-year-old until last spring. The honor roll student, who also sang in the school choir and participated…
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