Media

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. 2 weeks 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 […] 3 weeks 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 […] 3 weeks ago

Can a Probiotic Help PKU Patients?

Dr. Jerry Vockley, of UPMC Children’s Hospital of Pittsburgh, provides an update on the phase 2 study testing SYNB1618 to treat phenylketonuria (PKU). 3 weeks ago

Patients Can Stay Close to Home With NORD’s Center of Excellence 

As Dr. Bodamer explains, one of the benefits of having an established network of Centers of Excellence across the United States is that patients can quickly know which specialized centers are close to their home. 4 weeks ago

Gene Therapy for Fabry Disease Showing Promise

All nine patients treated in the dose escalation phase sustained elevated alpha-galactosidase A (α-Gal A) activity. 1 month ago

Type 1 Galactosemia Roundtable Discussion

A group of leading experts in metabolic disorders, advocates, and family representatives attended a virtual conference to discuss Type 1 galactosemia. 2 months ago

Engaging With Care Teams for Increased Compliance and Adherence in Pulmonary Arterial Hypertension

  Ronald Oudiz, MD, FACP, FACC, FCCP, Professor of Medicine, Director, Pulmonary Hypertension Clinic, Chief, Division of Cardiology, Harbor-UCLA Medical Center, discusses pulmonary arterial hypertension (PAH) and ways to engage with care teams for increased compliance and adherence. Pulmonary arterial hypertension (PAH) affects the heart and lungs and is characterized by abnormally high blood pressure […] 2 months ago

FDA Approves $3 Million Gene Therapy for Rare Brain Disorder (Cerebral Adrenoleukodystrophy)

Symptoms of CALD usually occur in early childhood and, if untreated, rapidly leads to severe loss of neurologic function and eventual death in most patients. 2 months ago

What Are Zinc Finger Proteins?

Dr. Gregory Davis, Vice President of Genome Engineering at Sangamo Therapeutics, gives an overview of zinc finger proteins and their role in modulating gene expression. 3 months ago

What is Dravet Syndrome?

Dr. Barry Ticho, Chief Medical Officer at Stoke Therapeutics, gives a detailed overview of Dravet syndrome, a rare seizure disorder. 3 months ago

Data From SHINE Study Shows Significant Breakthrough for Patients with Mantle Cell Lymphoma 

Dr. Michael L. Wang, of MD Anderson Cancer Center, discusses results of the phase 3 SHINE study with newly diagnosed mantle cell lymphoma presented at ASCO 2022. 4 months ago

Risdiplam’s Mechanism of Action 

Dr. Dalia Moawad, of Genentech, explains the how risdiplam works by increasing the production SMN2 protein in spinal muscular atrophy 4 months ago

How Duke University Has Led Pompe Disease Research

Dr. Priya Kishnani discusses the transformational work that has been done at  Duke Health Rare Disease Center’s in changing the way we manage Pompe disease.  4 months ago

What Is ENPP1 Deficiency?

Axel Bolte, MSc, MBA, Co-Founder, President, and Chief Executive Officer, Inozyme Pharmaceuticals, gives an overview of ENPP1 deficiency. 4 months ago

Collaboration Is Key: How Cooperation Among HCPs Benefits Individuals and Communities

Dr. Angela Scheuerle, at the UT Southwestern Medical Center, discusses the importance of collaboration between clinicians to improve clinical outcomes.  4 months ago

Mucopolysaccharidoses and Mucolipidoses Explained

Dr. Matthew Ellinwood, Chief Scientific Officer at the MPS Society, provides an overview of rare diseases the society is involved with [mucopolysaccharidoses (MPSs) and mucolipidoses (MLs)]. 5 months ago

Rare Diseases Cost Ten Times More Than Common Diseases 

The overall cost estimate for all rare disease is $7.2 trillion - $8.6 trillion per year, according to this study. 5 months ago