ChallengesExperts share their insights in diagnosing and managing rare conditions
- FDA Approves Combination of Venclexta and Rituxan for Lymphocytic Leukemia
The Food and Drug Administration (FDA) granted approval to venetoclax for patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL), with or without 17p deletion, who have received at least one prior therapy.
- Challenges of Diagnosing Patients with 22q11.2 Deletion Syndrome
Bernice Morrow, PhD, Director of Translational Genetics, Albert Einstein College of Medicine, discusses some of the challenges of diagnosing patients with 22q11.2 deletion syndrome, a disorder caused by the deletion of a small piece of chromosome 22. 2 …
- John Maraganore Speaks Out on His Role as Bio Chair
Dr. John Maraganore has served as the CEO and a Director of Alnylam since 2002 and is the Chair of the Biotechnology Innovation Organization (BIO) for the 2017-2018 term. Dr. John Maraganore has led a career pursuing therapies to address unmet medical …
- Overview of Sly Syndrome (Mucopolysaccharidosis type VII)
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome.
- FDA Approves Palynziq for PKU, a Rare Genetic Disease
The U.S. Food and Drug Administration today approved Palynziq (pegvaliase-pqpz) for adults with a rare and serious genetic disease known as phenylketonuria (PKU). Patients with PKU are born with an inability to break down phenylalanine (Phe), an amino …
- Overview of Lysosomal Storage Disorders
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses lysosomal storage diseases, a group of inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.
- 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 …