Stem Cell Therapies While stem cell therapies hold a great deal of promise for many rare diseases, there is still a lot that we don't understand. Experimental stem cell therapies…
Meredith Resnick's breast cancer risk is 42%. This risk is made up of her higher breast density (denser breasts are associated with increased risk), Ashkenazi Jewish heritage, a family history…
"A new way to improve the efficacy of a drug taken by millions of patients throughout the world." Background Adalimumab (also known as Humira) and infliximab (also known as Remicade)…
MVID Microvillus inclusion disease (MVID) is a rare, gastrointestinal disease which can cause impaired development in children. It is characterized by severe diarrhea which leads to dehydration and malnutrition. MVID…
Stargardt Disease Stargardt disease is a rare condition that causes vision loss due to the buildup of vitamin A byproducts in the retina. The byproduct causing the largest buildup is…
A recent study published in PLOS Biology has shown a promising new vulnerability within human viruses which could lead to the development of a new antiviral drug. This study was…
Transfusion-Dependent β-Thalassemia (TDT) Transfusion-dependent β-thalassemia (TDT) is a rare disease that is caused by a mutated β-globin gene. This mutation causes the amount of hemoglobin in the body to be…
Hereditary Hemochromatosis Hereditary hemochromatosis (HH) is a rare disease caused by hepcidin deficiency or hepcidin insensitivity. Hepcidin naturally regulates iron absorption/distribution in the body. Without hepcidin, HH patients suffer from…
No one ever likes to think about worst possible scenarios. But sometimes by thinking about these things for a small period of time, we can make simple preparations which could…
Friedreich's Ataxia Friedreich's ataxia (FRDA) is a rare disease which is caused by a frataxin deficiency. This deficiency results in the degeneration of nerves within the spinal cord. This nerve…
The Danger of Stereotypes There is still a huge stereotype that women are prone to "hysteria." This leads to a general distrust in women's self-reported symptoms. Physicians consciously or unconsciously…
Systemic Sclerosis Systemic Sclerosis (Systemic Scleroderma) is a rare disease which results in the hardening of the connective tissues in the body as well as the skin. It can affect…
The PoppyPocket The PoppyPocket is a wearable pocket, created to make wearing infusion pumps and well as other medical devices easier, safer, and more comfortable. It comes with two pockets,…
An Idea Sometimes life leads us down unexpected paths. Mark Greget founded a medical device distribution company. That was his plan. But after interacting with patients through his work, he…
The Beginning of the Journey Claudia Martinez is a medical student at UTHealth McGovern Medical School. Her dream is, and always has been, to be a doctor. But an unexpected…
The Problem One in every 12 Canadians will be diagnosed with a rare disease in their lifetime. Two/thirds of these individuals are children and most of these patients experience debilitating…
Sydney Mccallister is a 32-year-old woman diagnosed with spina bifida. Essentially, the condition means that the neural tube has not closed all the way during the first month of embryonic…
Passage Bio has just recently announced that Krabbe disease will be the focus of their third clinical trial program. Krabbe Disease Krabbe disease is a rare, inherited, neurodegenerative lysosomal storage…
Extended Collaboration Amicus Therapeutics has just announced that they are expanding their collaboration with the University of Pennsylvania's Perelman School of Medicine for the next five years. This collaboration is…
The Problem Orkambi is a drug for cystic fibrosis (CF) created by Vertex. It is effective for approximately 40% of all CF patients. It was licensed in 2015 by the…
The Beginnings Anne Pariser worked for 16 years at the FDA. For part of that time, she was a team leader for the Center for Drug Evaluation and Research where…
It has just been announced that the very first national registry for chronic kidney disease (CKD) patients (at all stages of disease) will be launched next year. The creation of…
The FDA has just approved the very first therapy for malignant pleural mesothelioma (MPM) in more than 15 years. It is the NovoTTF-100L System, developed by Novocure. Not only is…
Gunnar Esiason, a 28-year-old cystic fibrosis (CF) patient, just delivered an inspirational pre-commencement speech to the 2019 St. Louis University School of Medicine graduating class. Quite frankly, it contains wisdom…
Preclinical data supporting the efficacy of GKT831 as a potential therapy for cholestatic fibrosis has just been published in the Journal of Hepatology. GKT831 GKT831 is both a NOX1 enzyme and…
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