Rare and Genetic Disease Network
Featured
The Origins of Orchard Pharmaceuticals, A Unique Gene Therapy Company
Bobby Gaspar, MD, chief scientific officer at Orchard Therapeutics describes the origins of the company and his involvement. Dr..Gaspar is a professor of paediatrics and immunology at the UCL Great Ormond Street Institute of Child Health in London, UK.
Gene Therapy for Hemophilia A
Sangamo is a genomic medicine company that is starting to develop gene therapies for a number of conditions. Sandy Macrae, PhD, Chief Executive Officer of Sangamo talks about the work they are currently doing to develop a gene therapy for hemophilia A. While great...
Differential Diagnosis of Mucopolysaccharidosis Type I (MPS 1)
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health discusses the differential diagnosis of Mucopolysaccharidosis type I (MPS I), a condition that affects many parts of the body. MPS I is a condition that affects many parts of the body.
PI-613 (devimistat): Novel Treatment Option for Rare Cancers
Sanjeev Luther, president and chief executive officer (CEO) of Rafael Pharmaceuticals talks about his company’s lead compound, PI-613 (devimistat).
Drug Price vs Drug Value
Nick Kenny, PhD, Chief Scientific Officer at Syntheos Health discusses his company’s efforts to streamline data management for clinical trials, including the need to determine the value that a new drug will have on the health care system.
KIF1A Associated Neurological Disorder: A Perfect Storm of Various Conditions
Luke Rosen, father of a daughter with KIF1A associated neurological disorder (KAND), and co-founder of the KIF1A.ORG talks about the signs and symptoms of KAND and how it is the “perfect storm’ of systems that has led him and other parents to start a advocacy group to...
Fibromuscular Dysplasia (FMD) Overview
Jeffrey W Olin, DO is a Professor of Medicine at the Icahn School of Medicine at Mount Sinai, provides an overview of fibromuscular dysplasia (FMD), a rare condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow.
RDLA Empowers Rare Disease Patients
Christina Hartman, Senior Director of Advocacy & Policy for the EveryLife Foundation describes RDLA’s philosophy as “We don’t speak for the patients, but we empower the patients to have the knowledge and the tools to speak for themselves, and to advocate for these policies.”
Angelman Syndrome Clinical Study Showing Promise
Angelman syndrome is a rare neurodevelopmental disorder caused by a genetic mutation – usually a mutation in the ubiquitin protein ligase E3a (UBE3A) gene – that leads to a reduction in UBE3A protein.
Orchard Therapeutics: Developing Gene Therapies for MLD, ADA-SCID, and Wiskott-Aldrich Syndrome
Mark Rothera, CEO of Orchard Therapeutics, discusses his company, a fairly new gene therapy biotech that has a pipeline more appropriate for a bigger, more established company.
How Clinical Trials Are Evolving
“Physicians of all types need to be involved with this (clinical trial research) because the biotechnology is advancing so rapidly right now,” said Neal Weinreb, MD, a leading genetics and lysosomal storage disease researcher located in Coral Springs, Florida.
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
The Global Commission to End the Diagnostic Odyssey for Children, co-chaired by Takeda, Microsoft and EURORDIS-Rare Diseases Europe, is a multidisciplinary group of patient advocates, physicians and other experts working together to help solve the complex challenges impacting the rare disease community.
Special Reports
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
Tenosynovial Giant Cell Tumor (TGCT)
Mucopolysaccharidosis (MPS) Resource Center
Overview of the Mucopolysaccharidoses
Rare in Common Podcast
American Society of Hematology Conference Coverage
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
Rare Disease Diagnosis: Huntington’s Disease
Accelerating the Road to Treatment: The Global Commission to End the Diagnostic Odyssey for Children
Tenosynovial Giant Cell Tumor (TGCT)
Mucopolysaccharidosis (MPS) Resource Center
Overview of the Mucopolysaccharidoses
Rare in Common Podcast
American Society of Hematology Conference Coverage
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
