In a recent press release, biopharmaceutical company Mirum Pharmaceuticals, Inc. ("Mirum") shared that the company finished its rolling New Drug Application (NDA) submission. The NDA focuses around maralixibat, an investigational…
Since Bertrand Might was first diagnosed with NGLY1 deficiency in 2012, medical research around this extremely rare genetic condition has expanded. Unfortunately, Bertrand passed away in October 2020. However, his…
In 2018, China declared congenital adrenal hyperplasia (CAH) to be a rare disease, and it is estimated to affect 1 in every 6084 Chinese births. However, there are currently…
Each year, January 24 marks International Alagille Syndrome Awareness Day. During this day, organizations across the globe raise awareness around Alagille Syndrome (ALGS), from offering educational resources to allowing patients…
If you have a rare condition and are also looking to start a family, you might question: how will my condition impact my pregnancy? Will I be able to have…
As reported in MSN, Duane Zingale explained that one aspect of being born with Treacher Collins syndrome is that you’re extremely memorable. Duane was born without ears or cheekbones. He…
In a recent press release, biotechnology company VISEN Pharmaceuticals ("VISEN") announced the approval of its Investigational New Drug application (IND) in China. The China Center for Drug Evaluation (CDE) accepted…
Have you ever heard of Breakthrough Therapy designation? This designation is granted by the FDA for therapies designed to treat rare, serious, or life-threatening conditions. In mid-December 2020, PMLive…
Admittedly, 2020 has been tough for a variety of reasons. One of the greatest? The spread of COVID-19, a novel coronavirus attributed to 72.8 million cases and 1.62 million deaths…
When Camden Rau was born, his parents immediately knew that he was facing some sort of health problem. According to Camden's father, Steven, who spoke to Wink News, Camden's skull…
According to Fragile X News Today, a new registry recently launched within the United States to spur research into gene premutations linked to fragile X syndrome (FXS). Currently, the…
On November 27, biotechnology company Vertex Pharmaceuticals Inc. ("Vertex") announced the approval of SYMKEVI with KALYDECO for the treatment of pediatric patients with cystic fibrosis (CF), says GuruFocus. The…
Each year, thousands lose their vision to dominant optic atrophy (DOA), an inherited disease that negatively impacts the optic nerves. However, researchers and scientists from Trinity College Dublin may have…
The 62nd American Society of Hematology (ASH) Annual Meeting and Exposition will be held virtually this year from December 5 through 8. The goal of the meeting is to provide…
According to Charcot-Marie-Tooth News, biotechnology company AcuraStem recently identified 37 potentially therapeutic compounds that could be used to treat patients with Charcot-Marie-Tooth disease type 2A (CMT2A). Currently, CMT2A is the…
Early last week, Agios Pharmaceuticals ("Agios") announced that its treatment Mitapivat received Orphan Drug designation. This orally administered therapy is a pyruvate kinase R (PKR) activator. As Agios has…
According to a new study, researchers believe that lower limb functional surgery improves walking ability and quality of life (QOL) in patients with Charcot-Marie-Tooth disease (CMT). This option provides a…
This year, at the 2020 CNS-ICNA Conjoint Meeting, researchers identified ataluren as a potential treatment that inhibits disease progression for patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). Research suggests…
In late September and early October, the North American Cystic Fibrosis Conference (NACFC) went virtual, as many conferences and symposia this year have been forced to do. However, that does…
Many people within the rare disease community share a common experience: feeling isolated or misunderstood because of your condition. In some cases, such as conditions causing chronic pain or fatigue,…
At the very core of genetic diseases are - well, our genes. However, each year, an estimated 400,000 infants are born with de novo mutations, or new and spontaneous gene mutations not…
In recent years, there have been huge progressions in the field of gene therapy. At its core, gene therapy addresses genetic disorders by using genes to directly treat or…
At the end of September, Sarepta Therapeutics ("Sarepta") announced positive data from a study exploring SRP-9003, a gene therapy candidate, as a potential treatment for patients with limb-girdle muscular…
On September 30, 2020, BioCryst Pharmaceuticals ("BioCryst") announced promising data on their drug candidate BCX9930. The therapy, an orally administered Factor D inhibitor, is designed to treat patients with previously…
Recently, Canada made strides towards better, more accessible treatments for patients with beta thalassemia when they approved REBLOZYL (luspatercept). Biopharmaceutical companies Bristol Myers Squibb Canada ("BMS Canada") and Acceleron Pharma…
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