New inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS) discovered by NIH researchers

Researchers from the National Institutes of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene. VEXAS causes symptoms that included blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles (unusual cavity-like structures) in myeloid cells. The scientists reported

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New Report from ARM Provides Overview of the Regenerative Medicine Landscape for Rare Disease

Rare Disease & Regenerative Medicine 2019 This report provides industry specific statistics compiled from cell therapy, gene therapy, tissue engineering, and other regenerative medicine companies active in developing therapies for rare disease and provides context for the potential of regenerative medicine to improve upon the current standard of care.


€7.45m EU Horizon 2020 Research Project for Robotic Production of Regenerative Stem Cell Therapies for Osteoarthritis

NUI Galway’s Regenerative Medicine Institute has launched a new €7.45 million project to develop ground-breaking and innovative scientific and engineering platforms for the production of advanced cellular therapeutics for use in the treatment of osteoarthritis and other major diseases.  Funded by the EU Horizon 2020 programme the AutoCRAT project will address the critical need to

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Mount Sinai Surgeons Perform First Surgery in New York City Using FDA-Approved Spinal Tethering Device

Mount Sinai surgeons have performed the first-ever spinal tethering surgery in New York City to correct idiopathic scoliosis—a sideways curvature in the spine—in children and adolescents. The procedure performed by Baron S. Lonner, MD, Professor of Orthopedic Surgery, and Pediatrics, Icahn School of Medicine at Mount Sinai, and Chief of Minimally Invasive Scoliosis Surgery, Mount

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NIH Awards $7.5 million to ramp up clinical trials for rare, genetic airway diseases

Formed 15 years ago, the Genetic Disorders of Mucociliary Clearance Consortium is now co-led by UNC’s Stephanie Davis, MD, to continue advancing knowledge and treatments for genetic chronic pulmonary conditions. Source UNC Health Care To continue the push toward clinical trial readiness for individuals with rare diseases, the National Center for Advancing Translational Sciences, in

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Autologous nonmyeloablative hematopoietic stem cell transplantation for neuromyelitis optica

Patients with neurological disease that causes blindness, disability go treatment free Source Northwestern University A stem cell transplant reversed a debilitating neurological disease that causes half of the patients to go blind and lose the ability to walk five years after diagnosis. Most of the patients stayed better five years after the transplant and were

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Suvodirsen Receives FDA’s Fast Track Status to Treat Duchenne Muscular Dystrophy

The U.S. Food and Drug Administration (FDA) has granted fast track designation to suvodirsen as a treatment for people with Duchenne muscular dystrophy (DMD). The agency’s decision — which will expedite the review process for suvodirsen — was based on experimental and preclinical data demonstrating the treatment’s potential therapeutic activity. Suvodirsen already had been granted orphan drug designation for the treatment of DMD

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FDA Grants Orphan Drug Designation to Reneo Pharmaceuticals for REN001 for Treatment of Fatty Acid Oxidation Disorders

 Reneo Pharmaceuticals, a clinical stage pharmaceutical company, announced today that the U.S. Food and Drug Administration  (FDA) Office of Orphan Products Development has granted Orphan Drug Designation to the company’s lead drug candidate, REN001, for the treatment of fatty acid oxidation disorders (FAOD). “There is a pressing need for effective treatments for patients suffering from

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Myelofibrosis in 2019: moving beyond JAK2 inhibition

The authors outline the latest discoveries in the biology of myelofibrosis (MF), discuss current clinical management of patients with MF, and summarize the ongoing clinical trials that hope to change the landscape of MF treatment. Myelofibrosis (MF) is a myeloproliferative neoplasm characterized by ineffective clonal hematopoiesis, splenomegaly, bone marrow fibrosis, and the propensity for transformation

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Funded by FDA, C-Path and NORD to Launch Rare Disease Data and Analytics Platform

The collaborative project between the organizations will kick off at a launch meeting in September and will aim to reduce barriers for the development of new treatments and cures for rare diseases The Critical Path Institute (C-Path) and the National Organization for Rare Disorders® (NORD) will host a meeting on Tuesday, September 17 in Bethesda, MD

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