ChallengesExperts share their insights in diagnosing and managing rare conditions
- Efficacy and Safety of Nintedanib in Patients with Idiopathic Pulmonary Fibrosis
Boehringer Ingelheim Pharmaceuticals announced new presentations at the American Thoracic Society’s 2018 annual conference that reinforce the efficacy, safety and tolerability profile of Ofev (nintedanib) in patients with idiopathic pulmonary fibrosis …
- Epidermolysis Bullosa Overview
Daniel de Boer, Founder and CEO of ProQR, discussuses Epidermolysis bullosa (EB), a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching.
- The Role of Inflammation in Auto-Immune Diseases
Yuval Cohen, PhD, CEO of Corbus discusses the role of inflammation in auto-immune diseases.
- Rare Disease Diagnosis: Huntington’s Disease
Seth Rotberg, 27, was diagnosed with Huntington’s Disease at age 20 and has since become an advocate for rare disease patients. He tells us about his experience dealing with his own diagnosis, and shares his advice for anyone dealing with a new disease …
- Systemic Sclerosis (Scleroderma) Overview and Diagnosis Challenges
Yuval Cohen, PhD, CEO of Corbus provides and overview of systemic sclerosis (SSc), a rare and serious systemic autoimmune rheumatic disease with an unclear etiology.
- Review of Infants with Congenital Hyperinsulinism Shows Surgery Benefits
A review of nearly 500 cases of infants with severe congenital hyperinsulinism who underwent partial or near-total removal of their pancreas for persistent hypoglycemia at Children’s Hospital of Philadelphia (CHOP) showed that surgeons can cure virtually all patients with the focal, or localized, form of the rare genetic disease.
- Chris Garabedian Discusses His Time at Sarepta
https://www.youtube.com/watch?v=G04-Wdwe76s Chris Garabedian looks back to his time at Sarepta and his legacy there.
- Challenges of Diagnosing Patients for PAP and Lung Infection in Cystic Fibrosis
https://www.youtube.com/watch?v=5-VvFeW6GUI Rob Neville of Savara Pharmaceuticals discusses some of the challenges of diangosing PAP and NTM lung infection, two diseases Savara targets. Molgradex is an inhaled formulation of recombinant human GM …
- Dr. Justin Fallon of Tivorsan Pharma Discusses Biglycan and DMD Advocacy Groups
https://www.youtube.com/watch?v=9auGyomQwXU Justin Fallon, PhD is the Scientific Founder and Director of Tivorsan Pharmaceuticals, discusses his company’s plan for entering Biglycan into clinical trials and his compnay’s work with Duchenne Muscu …
- Crysvita (burosumab-twza) Approved for the Treatment of X–Linked Hypophosphatemia
The Food and Drug Administration (FDA) approved Crysvita (burosumab-twza) as the first treatment for patients with x-linked hypophosphatemia (XLH). Ultragenyx Pharmaceutical and Kyowa Hakko Kirin developed Crysvita, which is an antibody that blocks fib …