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…
According to a story from Healio, wearable technology that is meant to help users monitor their health and fitness have continued to grow in popularity in recent years. Most people…
According to a story from BioPortfolio, the biopharmaceutical company Complexa, Inc. recently announced that it has dosed the first patient in its Phase 2 clinical trial which is testing the…
According to a story from PR Newswire, the specialty pharmaceutical company Mallinckrodt plc recently announced the release of interim data from the company's Phase 3 clinical trial. This trial is…
According to a story from Oncology News, a team of researchers affiliated with UNSW Sydney have made a discovery that could have major implications for the rare cancer neuroblastoma, a…
According to a story from Juvenile Arthritis News, a recent study shows that a greater percentage of children with juvenile idiopathic arthritis are participating in school sports activities in the…
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…
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…
According to a publication from Genetic Obesity News, a new genetic mutation has been discovered in an Iranian family that has differing affects on early-onset obesity based on sex. Leptin,…
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…
According to a story from Central Charts, the biopharmaceutical company Inventiva recently announced the release of results from a Phase IIB clinical trial which tested the company's lead product candidate,…
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…
According to a story from Market Screener the biotechnology company Bioblast Pharma has announced a new partnership with Team Sanfilippo a nonprofit foundation which is committed to medical research related…
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,…
According to a story from globenewswire.com, the biopharmaceutical company Lysogene and the drug developer Sarepta Therapeutics, Inc., have recently announced that the first patient has been dosed in a Phase…
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