Rare and Genetic Disease Network
Featured
Results of Phase 2 Trial Showing Improvements in Pulmonary Exacerbations in Cystic Fibrosis
Greg Duncan, CEO of Celtaxsys discusses the top line results of its Phase 2 EMPIRE-CF trial evaluating oral, once daily anti-inflammatory molecule, acebilustat, for the treatment of cystic fibrosis (CF), irrespective of the causative genotype.
The Rare Disease Film Festival
Daniel DeFabio discusses the Rare Disease Film Festival, a relatively new event showcasing films from around the world which address the challenges of life with a rare disease. The first event was held in Oct of 2017 in Boston, MA.
Tay Sachs Overview and Diagnosis Challenges
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Tay-Sachs disease, a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
Hemophagocytic Lymphohistiocytosis: Disease Overview and Emerging Treatment Options
en Walt, Vice President, Head of Medical Affairs, SOBI in North America, discusses Hemophagocytic lymphohistiocytosis (HLH), a rare condition in which the body makes too many activated immune cells (macrophages and lymphocytes).
NIH to Accelerate Genetic Therapies for Sickle Cell Disease
The National Institutes of Health (NIH) today announced the launch of a new initiative to help speed the development of cures for sickle cell disease, a group of inherited blood disorders affecting at least 100,000 people in the United States and 20 million worldwide.
FDA Approves Subcutaneous Actemra for Systemic Juvenile Idiopathic Arthritis
The US Food and Drug Administration (FDA) approved a subcutaneous formulation of tocilizumab (Actemra, Genentech) for the treatment of active systemic juvenile idiopathic arthritis in patients 2 years of age and older.
FDA Grants Fast Track Designation to Bullous Pemphigoid Treatment
The U.S. Food and Drug Administration (FDA) granted Fast Track designation to bertilimumab for the treatment of bullous pemphigoid, a skin disorder characterized by large blisters.
The Growth of the Biotech Industry in Cambridge, MA
Barry Greene, President of Alnylam, discusses the growth of the biotech industry in Cambridge. MA.
Celtaxsys: Focus on Cystic Fibrosis and Rare Inflammatory Diseases
Greg Duncan, President and Chief Executive Officer of Celtaxsys, provides an overview of his company and it’s focus on cystic fibrosis (CF), an inherited chronic disease that affects the lungs and digestive system of about 70,000 children and adults worldwide.
New Biomarker Panel Could Accelerate Autism Diagnoses
Investigators at the UC Davis MIND Institute and NeuroPointDX, a division of Stemina Biomarker Discovery, have identified a group of blood metabolites that could help detect some children with autism spectrum disorder (ASD).
Dr. David Birch Explains X-Linked Retinoschisis (XLRS)
David Birch, PhD, Scientific Director at the Retina Foundation discusses X-linked retinoschisis (XLRS) is an inherited early onset retinal degenerative disease caused by mutations in the RS1 gene. It is the leading cause of juvenile macular degeneration in males. XLRS...
Angelman Syndrome Overview
Amit Rakhit, MD, Chief Medical and Portfolio Officer at Ovid Therapeutics, provides an overview on Angelman syndrome. Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed...
Special Reports
Rare in Common Podcast
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
Rare Disease Diagnosis: Huntington’s Disease
Rare in Common Podcast
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
