Rare and Genetic Disease Network


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.

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.

Special Reports