Rare and Genetic Disease Network
Featured
Invitae Discussing Their Presence at the 8th Orphan Drugs and Rare Diseases Conference
Katherine Stueland, Chief Commercial Officer at Invitae, provides an overview of her company and their attendance at this year’s 8th Orphan Drugs and Rare Diseases conference in Boston, MA in September.
Pulmonary Arterial Hypertension: Current Treatment Options
Roxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses the current tretment options of pulmonary arterial hypertension (PAH), a progressive condition that affects the heart and...
Niemann-Pick Disease
Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.
Rett Syndrome Research and Clinical Trials
Daniel Glaze, Medical Director of the Blue Bird Circle Rett Center and a Professor in the Departments of Pediatrics and Neurology at Baylor College of Medicine in Houston, discusses ongoing Rett syndrome research and clinical trials, including the ongoing phase 3 STARS trial.
Hereditary Sensory and Autonomic Neuropathy Type 1E (HASN1E) Overview
Rachelle Dixon, President and co-founder’s of the HSAN1E Society discusses hereditary sensory and autonomic neuropathy type 1E (HSAN1E), a progressive disorder of the central and peripheral nervous systems.
Mucopolysaccharidosis Type I: Overview, Diagnosis Challenges, Treatments, and Emerging Therapies
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type I (MPS I).
Stoke Therapeutics: Focus on Rare Genetic Diseases
Barry Ticho is the Chief Medical Officer at Stoke Therapeutics, and in this clip he provides an overview of his company.
FDA Approves Clobazam Oral Film (Sympazan) for Lennox-Gastaut Syndrome
The US Food and Drug Administration (FDA) approved an oral film formulation of clobazam (Sympazan, Aquestive Therapeutics) for the adjunctive treatment of seizures associated with Lennox-Gastaut syndrome (LGS) in patients 2 years and older.
The Challenges of Developing Drugs for Rare Diseases
Richard A. Basile,Co-Founder and CEO of BioPontis Alliance for Rare Diseases, discusses the challenges of developing drugs for rare diseases.
How Diagnostic Testing Companies Work with Biotech
Katherine Stueland, Chief Commercial Officer at Invitae, discusses how diagnostic companies work with biotech companies. Katherine also discusses the role of genetic companies in assisting patients and physicians in diagnosing rare diseases.
Sickle Cell Trait Increases Risk for Some Health Conditions
In the United States, an estimated 2.5 to 3 million people have a gene variant associated sickle cell trait (SCT) and most never have related health complications. Researchers have now identified three health conditions for which people with SCT are at increased risk.
Jenn McNarry Discusses the Sarepta AdCom and the Role of the Patient Advocate
Jennifer McNary, rare disease advocate, looks back at the Sarepta AdComm for Exondys 51 in 2016. She also discusses the role of the patient advocate.
Special Reports
Using Genomics to Better Understand Rare Diseases
Rare in Common Podcast
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
Rare Disease Diagnosis: Huntington’s Disease
Using Genomics to Better Understand Rare Diseases
Rare in Common Podcast
Considering Rare Diseases for Challenging Cases
Duchenne Muscular Dystrophy
