February 15, 2013 marked the first-ever International Angelman Day. The day, still celebrated nine years later, aims to raise global awareness for Angelman syndrome. Additionally, International Angelman Day serves to…
In the past, research has suggested that there was a genetic component to essential tremor (ET), a nervous system disorder. According to Medscape, researchers recently expanded on this understanding by…
In the United States, Orphan Drug designation is granted to drugs or biologics intended to treat, diagnose, or prevent rare diseases. For the purpose of this status, “rare” conditions…
Pursuing an education can be difficult enough without any other extraneous factors. But what if you were also battling frequent infections, gastrointestinal problems, and recurrent hospitalizations? For Evan Brandon,…
Meniere's disease is a rare inner ear disorder characterized by "attacks" of tinnitus, ear pain, ear pressure, and dizziness. While doctors have long pondered the exact cause of this condition,…
In the past, some researchers believed that fibromuscular dysplasia was a rare disease. While some researchers estimate that the incidence is actually much higher than reported, there is still a…
With each new day and technological improvements come new discoveries about the world around us. Some of those discoveries center around medical conditions which have never been seen before. According…
Most patients with Norrie disease, a rare X-linked genetic disorder, often develop sensorineural hearing loss. But what mechanisms cause this hearing loss to occur? According to Medical XPress, researchers from…
Medical research drives a huge amount of our understanding around rare diseases. Recently, researchers from Brown University performed a study to deepen their understanding of a rare, X-linked genetic disorder…
In medical research, researchers often use a variety of non-human models to expand their understanding of various diseases or potential treatments. For example, mice models, or non-human primates, are frequently…
Genetic mutations are associated with a wide range of disorders or medical conditions. According to ALS News Today, researchers sought to understand the underlying genetics associated with sporadic amyotrophic lateral…
What’s a great way to spark an understanding of diversity and the complex and beautiful differences between different people? A children’s book! Children’s books are often designed to both tell…
In the United States, Orphan Drug designation is granted to drugs or biologics intended to treat rare or chronic illnesses. For the purpose of this designation, "rare illnesses" are defined…
When organizations partner together to work towards improving patient outcomes, it can also help to increase the understanding and spur research of certain conditions. According to Healio, a recent…
It is important that we understand how medical conditions impact everyone, as knowledge helps with future research, drug development, and more. Unfortunately, medical research is not always inclusive. Because of…
When Ashley and Connor Henderson received news that they were pregnant, the family was overjoyed. After all, the Henderson family already had Liam and was hoping to add another child…
On August 2, 2021, biotechnology company Amicus Therapeutics ("Amicus") shared that its oral treatment Galafold (migalastat) was approved by the European Commission (EC) for the treatment of adolescent patients (ages…
Medical professionals are still working to uncover the cause of Alzheimer's disease. While they believe that a combination of genetic and environmental factors paired with certain lifestyle choices leads to…
For the first time, a research study has discovered a genetic marker related to high-risk neuroblastoma. According to Medical XPress, researchers determined that anaplastic lymphoma kinase (ALK) gene mutations and…
Mobility issues are common in patients with osteogenesis imperfecta (OI) - especially tendinopathy, or tendonitis. But why does this happen? According to Medical XPress, a study performed by Baylor College…
Early diagnosis and prompt treatment are absolutely necessary for the best outcomes in many rare disorders. Keratoconus, a rare disease that impacts the cornea, is no exception. It is best…
Charcot-Marie-Tooth disease (CMT) is associated with a number of genetic mutations. In fact, the different mutations signify specific CMT subtypes, such as CMT1 or CMT3. According to Charcot-Marie-Tooth News,…
Head and neck squamous cell carcinoma (SCC) is considered both aggressive and difficult to treat. In fact, doctors estimate that nearly 50% of all patients will eventually see the recurrence…
Currently, there is no cure for mesothelioma, and many treatment options revolve around surgery, radiation, or therapy. But could targeted treatment and precision oncology provide better patient outcomes? According to…
Poly ADP ribose polymerase (PARP) inhibitors are targeted cancer therapies which block PARP, an enzyme. Normally, PARP plays a role in DNA repair. Thus, inhibiting PARP prevents cancer cells from…
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