ResearchFocus on the pharmaceutical and biotech industry
- May is MPS Awareness Month
Mucopolysaccharidoses (MPSs) are a group of genetic lysosomal disorders in which persons have low levels of specific enzymes that leads to an abnormal accumulation of complex carbohydrates (mucopolysaccharides or glycosaminoglycans).
- Anne R. Pariser, MD Discusses Rare Disease Research at the NIH
Anne R. Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences at the National Institutes of Health discusses rare disease research.
- Translarna for Duchenne Muscular Dystrophy
Mark Pykett, PhD, Chief Scientific Officer at PTC Therapeutics, discusses his company’s product for Duchenne muscular dystrophy, Translarna.
- Huntington’s Disease Overview and RG6042 as a Potential Therapy
Scott Schobel, MD, MSc, Associate Group Medical Director and Clinical Science Leader for the IONIS/Roche HTT Rx program at Roche/Genentech Neuroscience discusses Huntington’s disease and the GENERATION HD1 trial (Global EvaluatioN of Efficacy an …
- Solid Biosciences Focus on Duchenne Muscular Dystrophy
Ilan Ganot, Co-Founder, President and CEO of Solid Biosciences provides an overview of his company and it’s focus on Duchenne muscular dystrophy (DMD). Mr. Ganot started Solid in 2013 to find treatments, and potentially a cure, for DMD, a disease that afflicts his son Eytani.
- Precision Medicine and the Importance of Genetic Testing in Rare Diseases
Mark Pykett, PhD, Chief Scientific Officer at PTC Therapeutics, discusses the importance of genetic testing in rare diseases.
- Overview of the Office of Rare Diseases Research
Anne R. Pariser, MD, Director of the Office of Rare Diseases Research, National Center for Advancing Translational Sciences at the NIH provides an overview of the Office of Rare Diseases Research at the NIH.
- The Promise of Gene Therapy and the Challenges of Payment Structures
Jeff Ajer, Executive Vice President and Chief Commercial Officer of BioMarin, discusses gene therapy. The development of these transformative therapies has triggered discussions about market access challenges, the viability of alternative financing mechanisms, and the results for patient access.
- Sanfilippo Syndrome
Raj Mehra, PhD, Chief Executive Officer of Seelos Therapeutics provides an overview of Sanfilippo syndrome, also known as Mucopolysaccharidosis type III (MPS III), a progressive disorder that primarily affects the brain and spinal cord (central nervous system).
- Breakthrough Designation for Idiopathic Pulmonary Fibrosis Therapy
The U.S. Food and Drug Administration (FDA) granted PRM-151, a novel investigational anti-fibrotic immunomodulator, Breakthrough Therapy designation for Idiopathic Pulmonary Fibrosis (IPF).