Olivia Egge is an osteosarcoma cancer survivor and an advocate for all those living with rare conditions like her own. The senior in high school living in Arlington, Virginia recently…
Spinal Muscular Atrophy Spinal muscular atrophy (SMA) is caused by a mutation in the SMN1 gene. This mutation results in a loss of motor neurons causing weak and atrophied muscles.…
How Liver Transplant Recipients are Selected Liver transplant recipients in the United States are selected according to their MELD score. This number is calculated from lab values. It aims to…
Last year, Takeda, Eurordis, and Microsoft announced new collaborative efforts in the realm of rare disease. Specifically they were focused on the diagnostic period of rare conditions. However, up until…
Albinism There are many different forms of oculocutaneous albinism (OCA), all caused by different genetic mutations to the genes responsible for producing melanin. Melanin is a pigment which is present…
Second Annual International Congress on Advanced Treatments in Rare Diseases The first International Congress on Advanced Treatments in Rare Diseases, otherwise known as RARE2018, was held in London, England. Now,…
What is Pulmonary Arterial Hypertension? Pulmonary arterial hypertension (PAH) is a rare form of high blood pressure. Normal blood pressure is around 14 mm HG at rest. Someone with PAH…
What is Distal Renal Tubular Acidosis? Distal renal tubular acidosis (dRTA) is a rare condition which affects approximately 1 in every 100,000 people worldwide. It is caused by a build up…
Researchers at BGN Technologies (at Ben-Gurion University) have come up with a new way to predict and monitor progression of a wide array of neurodegenerative diseases. One of the illnesses…
The typical treatment for Fabry disease is Fabrazyme which is an enzyme replacement therapy (ERT). This therapy must be administered to the patient every two weeks. A new ERT created by…
What is the Patient Advocate Foundation? The Patient Advocate Foundation (PAF) is a non-profit, formed in 1994 that has one primary aim- eliminate the barriers to treatment too many patients…
Passsage Bio Passage Bio has just announced that they've received 115.5 million dollars to help advance their development of gene therapies. They will begin by using the funds to further…
Cystic Fibrosis Cystic fibrosis (CF) is a rare condition that causes mucus to build up in the lungs and the digestive system. It results in chronic lung infections, lung inflammation, and…
Langerhans Cell Histiocystosis Langerhans Cell Histiocytosis (LCH) Is a rare form of cancer caused by an excessive amount of Langerhan cells in the body. These cells form granulomas which can have a…
Fetal Surgery for Spina Bifida Spina bifida is a rare condition which results in improper spine formation during embryonic development. A gap occurs in the vertebrae causing nerve damage in varying…
Hydrocephalus Hydrocephalus is a rare disease which causes a build up of fluid in the ventricles of the brain. The continuous flow of this fluid is how the body prevents the…
What is Precision Medicine? In essence, precision medicine refers to the idea that in order to establish the best treatment plan for a patient, we must look at them as…
The first step in treating rare diseases is accurately diagnosing them. Unfortunately far too many people go years without knowing what is going wrong in their body. Doctors are trained…
Ocugen Pharmaceuticals has just received their first ever orphan drug designation by the FDA for a gene therapy treatment. It's called OCU400 and it's being investigated as a treatment for…
Cystic Fibrosis Cystic fibrosis (CF) is a rare disease caused by the lack (or malfunctioning) of the cystic fibrosis transmembrane conductance regulator (CTFR) protein. This occurs when children inherit a mutated…
Neutropenia Neutropenia is a rare condition that affects approximately 1 in every 200,000 newborns. It results in a reduced number of neutrophils in the body. Neutrophils are white blood cells,…
Interstitial Lung Disease in Systemic Sclerosis Systemic sclerosis (SSc), sometimes referred to as systemic scleroderma, is a rare autoimmune condition. It results in the buildup of fibrosis in the skin…
Cryptococcosis Cryptococcosis is a disease caused by the Cryptococcus fungus. It can affect the lungs, the spinal cord, or the brain. When the brain is infected, the condition is called…
Hypoparathyroidism Hypoparathyroidism (HP) is caused by low levels of the parathyroid hormone (PTH). Most people develop this disease after thyroid surgery as a result of accidental damage/removal of the parathyroid…
In order to begin clinical trials for an experimental new drug, pharmaceutical companies in the U.S. are required to submit an Investigational New Drug (IND) application to the FDA. They…
Sign Up With a Patient Worthy Account and Share Your Rare Story
- OR -
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.
- OR -
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.
