A recent study published in the Orphanet Journal of Rare Diseases examines the psychological burden of mitochondrial diseases in children that are suspected of having some form of it but have yet…
According to a story from Mirror Online, Vera Twomey from Cork, Ireland, was devastated when her four month old daughter had a severe seizure that lasted 45 minutes. Before long,…
According to a story from Hindawi, a recent study focused on congenital central hypoventilation syndrome serves to bring to light the importance of genetic testing of close family members based…
What is Repurposing? Repurposing involves testing whether or not a compound approved of another condition may be capable of also treating an illness with no approved treatment option. It's advantageous,…
Dr. Pierre Fenaux, of Hôpital Saint Louis, Paris and lead author of the MEDALIST trial, told Ash Clinical News that treatment with the investigational drug, luspatercept, improved the rate of…
According to a story from Sleep Review, the drug company Jazz Pharmaceuticals plc has recently filed a New Drug Application (NDA) for its investigational treatment JZP-258, which is being developed…
By now, everyone has heard of COVID-19. Information is constantly being updated surrounding the nature, symptoms, spread, and potential treatments for the illness. Despite this constant influx of information, there…
What is Homocystinuria? Classical homocystinuria, or HCU, is a rare metabolic condition which its caused by a deficiency of the CBS enzyme. It results in high levels of homocysteine in…
According to a story from Fierce Biotech, there have been some impressive advances in the treatment of cystic fibrosis recently. The latest milestone was in developing and approving the drug…
According to a press release on Global Newswire, Novartis has received a positive opinion on Cosentyx® from the Committee for Medicinal Products for Human Use (CHMP). This positive opinion…
Cystic fibrosis is caused by a mutation in the gene CFTR. This gene involves a protein that affects the chloride on cells; without this chloride the surface of the…
As originally reported in Fabry Disease News, the potentially fatal genetic disorder Fabry disease can be diagnosed most effectively in infancy by newborn screening programs. By identifying the disease early,…
When Kyle and Sue Dempsey's daughter Mackenzie was three years old, she was in a car accident that resulted in head trauma. A couple of years later, when she was…
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Zolgensma is a gene therapy developed by AveXis for the treatment of spinal muscular atrophy. It was approved by the FDA in May of 2019, and was later cleared for…
Phase IIa of the clinical trial of Lu AG06466 has recently concluded. This drug is meant for the treatment of Tourette syndrome, but has not met the primary endpoints in…
Mother of two, Mina Manchester, has been navigating raising two children with an immunocompromising disorder for four years. It's this unique experience that makes her feel more prepared and…
APR Applied Pharma Research is a small pharmaceutical company in Switzerland concerned with innovations for rare diseases. They have recently been granted the Orphan Drug designation by the FDA, meaning…
Relapsing polychondritis is a rare disease which causes damage to the cartilage, trachea, and lungs. It's an autoimmune condition meaning an overzealous immune response causes the body to attack its own…
A recent study, conducted my Melinda Kavanaugh from the University of Wisconsin, Milwaukee, examined the role of children who are acting as caregivers for those diagnosed with amyotrophic lateral sclerosis…
According to a recent article published in Pharmaceutical-Technology, uniQure’s gene therapy AMT-130 may lower levels of the huntingtin protein that causes the disorder. An abnormal gene is responsible for damage…
RARE on the Road: a Rare Disease Leadership Tour May 30th, 2020 Raleigh, NC The Rare Disease Leadership Tour is designed to give insights and education to rare disease advocates,…
In May of 2019, the FDA approved a new therapy for Spinal Muscular Atrophy (SMA) called Zolgensma. Now, that therapy has been approved by the Japanese Ministry of Health, Labour…
Published in Social Science & Medicine, a recent study conducted by Drexel University has shed light on how, even in a world of evolving precision medicine, there is also merit in…
According to a story from Buzzfeed News, Sharon Greenstein, who lives with the rare autoimmune disease known as Sjögren's syndrome, can no longer find the drug that she uses for…
Researchers from the Murdoch Children’s Research Institute (MCRI) have recently discovered a previously unknown and uncharted neurodegenerative disorder. This rare disorder, which has not yet been named, affects children. It…
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