Tuberous Sclerosis Tuberous sclerosis complex (TSC) is a rare condition which results in the buildup of tumors in the skin, kidneys, brain, as well as other organs. Although the tumors are…
Inflammatory Bowel Disease Inflammatory bowel disease (IBD) is an autoimmune condition which causes inflammation throughout the digestive tract. There are two main forms of the condition- Crohn's disease and the…
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Myalgic Encephalomyelitis (ME) and Chronic Fatigue Syndrome (CFS) are interchangeable titles used to describe the same illness. Sometimes this illness is simply referred to as ME/CFS.…
Gene Editing What is gene editing? It's been a hot topic over the last few years, but basically the concept is this: instead of disabling a malfunctioning gene, researchers are…
The Importance of Speech The ability to speak gives individuals not only the opportunity to communicate with one another, it provides an outlet for expression, creativity, and connectedness. Unfortunately, that…
Duchenne Muscular Dystrophy Duchenne muscular dystrophy (DMD) is a rare, progressive, and fatal condition. It primarily affects males (1 out of every 3,600 to 6,000 male births). It's caused by…
Merkel Cell Carcinoma Merkel cell carcinoma is a rare and aggressive form of skin cancer. It's most often caused by the Merkel cell polyomavirus. However, it can also occur as…
Lambert-Eaton Myasthenic Syndrome Lambert-Eaton Myasthenic syndrome (LEMs) is a rare autoimmune disease. The body's immune system targets nerve cells meaning patients experience muscle weakness. Other symptoms of LEMs include difficulty walking…
Emmanuel Mignot, who is the director of the Stanford Center for Sleep Sciences and Medicine has long believed that some onsets of Narcolepsy could be caused by a confused autoimmune response in…
Ehlers-Danlos Syndrome Ehlers-Danlos syndrome (EDS) refers to a group of rare disorders which affect the connective tissues in the blood vessels, bones, skin, and other organs in the body. It's caused…
Narcolepsy and Cataplexy Narcolepsy is a neurological condition that results in a malfunctioning sleep-wake cycle. It affects approximately 185,000 individuals in the United States alone. Some of the most common…
Pheochromocytoma and Paraganglioma Pheochromocytoma refers to a type of tumor that arises from chromaffin cells. They normally occur in the adrenal medulla. However, 10% of these tumors occur outside of this…
Hypereosinophilic syndrome Hypereosinophilic syndrome (HES) refers to a group of rare conditions characterized by high levels of eosinophils which result in organ damage. These eosinophils often affect the lungs, heart, skin,…
About BridgeBio Pharma BridgeBio Pharmaceuticals was created in 2015 by veterans from the fields of academia and biotechnology. The company focuses on the development of new therapeutic treatments for genetic…
Multiple Myeloma Multiple Myeloma is a rare form of cancer that develops in the body's plasma cells. These cells are normally responsible for helping the body fight infection. The accumulation…
About Graft-Versus-Host-Disease (GvHD) Graft-Versus-Host-Disease (GvHD) occurs when a patient's body rejects cells which have been transplanted. For instance, it may develop following a stem cell transplant or a bone marrow transplant. The…
The Problem One of the greatest challenges in the investigation of nanoscale treatments for people with rare diseases is figuring out how to administer the therapy to the correct part…
deCODE Genetics, which is a research subsidiary of Amgen genomics based in Iceland, has recently created an extremely detailed genetic map. They wanted to uncover more about the human genetic…
What is Duchenne Muscular Dystrophy? Duchenne muscular dystrophy (DMD) is a rare genetic condition that is ultimately fatal. It causes muscles to weaken and usually results in heart failure before age…
There is a high unmet need to find more effective treatments for liver cancer. Currently, treatment options for patients often only increase life expectancy by 3 to 4 months. An accidental…
Mendelian Mendelian is a healthtech company in London whose primary goal is to help the National Health System (NHS) diagnose rare diseases faster. With 3 million people currently living with a…
Rett Syndrome Rett syndrome is a rare neurodevelopmental disorder. It affects females disproportionately, at a far greater rate than males. It causes cognitive, autonomic, and neurological dysfunction as well as a loss of…
This is the story of Tom Dinwiddie, who was diagnosed with terminal cancer on April 2, 2012. This year, now age 69, he is officially six years cancer free. The Diagnosis…
What is osteogenesis imperfecta? Osteogenesis imperfecta (OI) actually refers to a group of four distinct rare disorders- OI Type I, II, III, and IV. They're all characterized by brittle bones which…
Thanks to a chance encounter in a bike shed, two research groups at the Francis Crick Institute have discovered two distinct ways that pancreatic cancer tumors form and grow. The first research…
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