Media

CTCL: Criteria to Diagnose, Counsel Patients, and Work-Up for Early-Stage Mycosis Fungoides

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. 1 week ago

What is Fanconi Anemia?

Ronald Martell, President, and CEO of Jasper Therapeutics gives an overview of Fanconi anemia. 2 weeks ago

ENPP1 Deficiency Explained

Catherine Nester of Inozyme Pharma explains Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency. 3 weeks ago

FDA Approves Efanesoctocog Alfa To Treat Hemophilia A

Dr. Angela Weyand, from Michigan Medicine, discusses the safety and efficacy data of the XTEND-1 study that led to the FDA approval of efanesoctocog alfa.  4 weeks ago

Diagnosing Rett Syndrome

Jana von Hehn, PhD, Chief Scientific Officer of the Rett Syndrome Research Trust, discusses the challenges of diagnosing Rett syndrome. 4 weeks ago

FDA Approves Aflibercept for Treating Retinopathy of Prematurity

This the fifth indication approved for aflibercept but the first approved orphan drug indication. 1 month ago

Rett Syndrome

Rett syndrome is a multisystem disorder that primarily affects girls; multiple loss-of-function mutations to the MECP2 gene are the cause of this rare disease. 2 months ago

WHIM Syndrome Panel Discussion: Recognizing and Diagnosing This Rare Disease

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. 2 months ago

Impact of COVID-19 on Pulmonary Arterial Hypertension (PAH) Patient Care

Dr. Harrison Farber at Tufts Medical Center discusses a chronic rare disease that affects the circulatory system in the lungs and directly affects the ability of the lungs to function. 2 months ago

Can We Streamline How AAV Gene Therapies Are Developed?

Dr. PJ Brooks at NCATS describes the Platform Vector Gene Therapy (PaVe-GT) pilot project. 2 months ago

Survival Benefit of Birtamimab in Treating AL Amyloidosis 

Dr. Morie Gertz, of the Mayo Clinic, discusses the survival benefit of birtamimab in high-risk AL amyloidosis. 3 months ago

Rett Syndrome Related Disorders

Jeffrey L. Neul, MD, PhD, Director of the Vanderbilt Kennedy Center, and Professor of Pediatrics, Division of Neurology, Pharmacology, and Special Education, at the Vanderbilt University Medical Center, discusses disorders related to Rett syndrome that are also treated at the Rett Syndrome Clinic. 3 months ago

Why It Is Difficult to Quickly Diagnose Congenital Disorders of Glycosylation

Dr. Morava-Kozicz of the Mayo Clinic profiles an overview of congenital disorders of glycosylation (CDG). 3 months ago

Benefits of Liquid Formulations in Pediatric Populations

Bonnie Smeryage, NP, Pediatric Nurse Practitioner in Hollywood, FL, discusses the benefits of liquid formulations in pediatric populations. 4 months ago

Zero Relapses in Patients With NMOSD Given Ravulizumab

Dr. Sean Pittock, discusses the latest results from Phase III CHAMPION-NMOSD trial recently presented at the ECTRIMS Congress. 4 months ago

Mechanism of Action of Efanesoctocog Alfa to Treat Hemophilia A

Dr. Annette von Drygalski, from the University of California, San Diego, discusses the mechanism of action of efanesoctocog alfato treat hemophilia A. 4 months ago

Caring for Patients With Pulmonary Arterial Hypertension (PAH) During the COVID-19 Pandemic

  Gustavo A. Heresi, MD, MS, Director of the Pulmonary Vascular and Chronic Thromboembolic Pulmonary Hypertension Program in the Department of Pulmonary and Critical Care Medicine in the Respiratory Institute at Cleveland Clinic discusses caring for patients with pulmonary arterial hypertension (PAH) during the COVID-19 pandemic. Pulmonary arterial hypertension is a rare, progressive disorder characterized […] 5 months ago

The Challenges of Diagnosing and Treating Pulmonary Arterial Hypertension (PAH)

  Gustavo A. Heresi, MD, MS, Director of the Pulmonary Vascular and Chronic Thromboembolic Pulmonary Hypertension Program in the Department of Pulmonary and Critical Care Medicine in the Respiratory Institute at Cleveland Clinic discusses the challenges of diagnosing and treating patients with pulmonary arterial hypertension (PAH). PAH is a rare, progressive disorder characterized by high […] 5 months ago