Media

Neuroblastoma

Neuroblastoma

Neuroblastoma is a rare childhood cancer, but it is the most common extracranial solid tumor in children. 3 weeks ago

Watch the DAYBUE® (trofinetide) in Practice Video Series to Hear Expert Insights on the First Treatment for This Rare Disease

Rett syndrome thought leaders discuss how DAYBUE™ (trofinetide), the first and only FDA-approved treatment for Rett syndrome in adults and pediatric patients 2 years of age and older, plays a role in their patients’ treatment plans, while shedding light on their personal experiences with DAYBUE in their practices. 2 months ago
Improving Health Equity in HAE

Improving Health Equity in Hereditary Angioedema (HAE): A Panel Discussion

This panel discussion by three clinical research leaders in HAE, Drs. Aleena Banerji, Timothy Craig, and Marc Riedl, provide an overview of the discrepancies in care observed in certain patient populations, as well as a discussion on best practices to reduce those inequalities moving forward. 2 months ago
WHIM Syndrome Overview

WHIM Syndrome: Overview, Diagnosis, and Management

Jean Donadieu, MD Service d'Hémato-Oncologie Pédiatrique, Hopital, Paris, provides an overview of WHIM syndrome. 2 months ago

Optimizing Therapeutic Proteins Through PEGylation: Key Parameters and Impacts

This Webinar examines what is PEGylation and the clinical uses of therapeutic proteins, and their applications in healthcare. 2 months ago
Hypoparathyroidism

Hypoparathyroidism

Hypoparathyroidism is a rare endocrine disorder characterized by a deficiency of parathyroid hormone (PTH), which leads to decreased serum calcium and increased phosphorus levels in the blood. 2 months ago

2025 Orphan Drugs: PDUFA Dates and FDA Approvals

Almost half of all novel medications approved by the U.S. Food and Drug Administration (FDA) are orphan drugs. Below is the list of important regulatory dates for all orphan drugs for 2025. 2 months ago

Rates of Severe Neutropenia and Infection Risk in Patients Treated With Deferiprone: 28 Years of Data

Dr. Sujit Sheth discusses his recently published work in Blood Advances titled “Rates of severe neutropenia and infection risk in patients treated with deferiprone: 28 years of data." 5 months ago
Type 1 Galactosemia

Type 1 Galactosemia: Significant Unmet Need, Lifelong Complications, and Current Management

Type 1 galactosemia is a rare genetic disease that can be life-threatening in newborns and can lead to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women. 5 months ago

Restless Legs Syndrome Treatment and Guidelines Update

Dr. Mark J. Buchfuhrer discusses clinical practice guidelines update suggesting against the standard use of dopamine agonists for the treatment of restless legs syndrome. 5 months ago
Primary Biliary Cholangitis Treatment

Navigating Diagnosis and Treatment for Primary Biliary Cholangitis: The Integral Role of the Patient Voice

Dr. Sonal Kumar, an Assistant Professor of Medicine, and Director of Clinical Hepatology at Weill Cornell Medical College in New York, NY discusses the integral role of the patient voice in navigating disease progression and determining an individualized care plan for people living with primary biliary cholangitis (PBC) that reflects their needs and treatment goals. 5 months ago
WHIM Syndrome

Learn About WHIM Syndrome

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. 5 months ago
Cutaneous T-Cell Lymphoma (CTCL)

Cutaneous T-Cell Lymphoma

Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders. Cutaneous T-cell lymphoma is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people and represents around 70% of primary cutaneous lymphomas. 5 months ago
Rett Syndrome

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. 5 months ago
Fabry Disease Podacast

Fabry Disease: Overview, Diagnosis, and Personalized Treatment Plans

Fabry disease an X-linked genetic disorder that leads to the buildup of globotriaosylceramide in the body’s cells. Common features of Fabry disease include episodes of pain (acroparesthesias), angiokeratomas, hypohidrosis; corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. 6 months ago
Tenosynovial Giant Cell Tumor (TGCT)

Tenosynovial Giant Cell Tumor (TGCT)

Tenosynovial giant cell tumor (TGCT) is a rare benign tumor involving the joint synovium, bursae, and tendon sheath. 6 months ago
Ataxia Telangiectasia

Ataxia Telangiectasia

Ataxia telangiectasia (A-T) is a rare primary immunodeficiency that affects the nervous system, the immune system, and many other parts of the body. 6 months ago
AVP Deficiency

Arginine Vasopressin (AVP) Deficiency

Arginine vasopressin (AVP) deficiency is a rare neuroendocrine disorder caused by the loss or impaired function of vasopressinergic neurons in the hypothalamus and posterior pituitary gland. 7 months ago