Diagnosis

Nancy L. Kuntz, MD, FAAN discusses diagnosing and managing people with spinal muscular atrophy through these brief courses that are certified for CME and CNEcredit.

WHIM Syndrome Learning Center

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be delayed, sometimes even into adulthood.

CME Program: Gaucher Disease Highlights from WORLDSymposium 2020

Neal Weinreb, MD, FACP highlights the latest information about Gaucher disease from WORLDSymposium and provides expert analysis of its clinical relevance to help health care providers better care for patients with this rare disease.

CME Program: Fabry Disease Highlights from WORLDSymposium 2020

Ozlem Goker-Alpan, MD highlights the latest Fabry disease information from the WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with this rare disease.

Tenosynovial Giant Cell Tumor (TGCT)

Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).

CME Program: Mucopolysaccharidoses (MPSs) Highlights from WORLDSymposium 2020

Barbara K. Burton, MD highlights the latest information about MPSs from WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with these rare diseases.

CME Program: Managing Individuals With Eosinophilic Granulomatosis with Polyangiitis (EGPA)

Michael E. Wechsler, MD, MMSc provides an overview of Eosinophilic Granulomatosis with Polyangiitis (EGPA) – including how to shorten individuals’ diagnostic journey and the time till they access effective therapy – through these brief courses that are certified for CME credit.

TTR Amyloidosis CME Program

Morie A Gertz, MD, MACP provides an overview of TTR Amyloidosis – including how to shorten individuals’ diagnostic journey and the time till they access treatment which might improve their quality of life or even prevent disease progression – through these brief courses that are certified for CME credit.

Rare Disease Clinical Trials CME Program

Learn about clinical trials and rare diseases through these brief courses that are certified for CME and CNE credit.

Heather Lau, MD, MS, NYU School of Medicine, New York, NY
Morie A Gertz, MD, Mayo Clinic, Rochester, MN
Timothy Craig, DO, Penn State University, Hershey, PA
Eric T. Wong, MD, Harvard Medical School, Boston, MA

Diagnosis

New CME Focused on the Latest HAE Research

The Past, Present, and Future of Prenatal Screening

Overview of Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA)

New Report Estimates the Number of Rare Diseases Is More Than 10,000

Positive Interim Data in Gene Therapy Trial for GM1 Gangliosidosis

NORD’s Rare Disease Centers of Excellence Benefits Individuals and Communities

Positive Updated Results from MajesTEC-1 Study in Relapsed/Refractory Multiple Myeloma

What Is Vernal Keratoconjunctivitis (VKC)?

Do Our Newborn Screening Programs Need Fixing?

Average Time to Diagnose Tenosynovial Giant Cell Tumors (TGCT) Is 17 Months

Spinal Muscular Atrophy CME Program