ChallengesExperts share their insights in diagnosing and managing rare conditions
- Daniel de Boer Discusses His Company’s Focus on Leber Congenital Amaurosis
Daniel de Boer, Founder and CEO of ProQR, discusses his company’s focus on Leber congenital amaurosis. This rare eye disorder primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color.
- Hunter Syndrome (MPS Type II) Overview
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome.
- ELX-02: Emerging Therapy for Cystic Fibrosis
Mr. Robert (Bob) E. Ward, Chairman of the Board and Chief Executive Officer of Eloxx Pharmaceuticals provides an overview of his company’s leading drug candidate, ELX-02 for cystic fibrosis.
- Pulmonary Arterial Hypertension (PAH): Emerging Treatment Options
Roxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses some of the emerging tretment options for pulmonary arterial hypertension (PAH).
- 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.