Advocacy

Sep 25, 2023| Posted in: Advocacy, Musculoskeletal Diseases

Exploring the Impact of the LGMD2A/Calpainopathy Registry by Coalition to Cure Calpain

Calpainopathy, a rare form of muscular dystrophy, is…
Sep 18, 2023| Posted in: Advocacy, Cardiology, Congenital And Genetic Conditions, Hematologic Disorders, Treatment

Lipid Profiles in Children

Dr. Mary McGowan, chief medical officer of the…
Aug 28, 2023| Posted in: Advocacy, Cardiology, Congenital And Genetic Conditions, Hematologic Disorders

Overview of Homozygous Familial Hypercholesterolemia

Dr. Mary McGowan, chief medical officer of the…
Updated on: Sep 8, 2023| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Congenital And Genetic Conditions, Diagnosis, Metabolic Disorders, Skin Conditions

Recognizing and Diagnosing WHIM Syndrome

WHIM syndrome is a rare, congenital primary immunodeficiency disorder…
Jul 19, 2023| Posted in: Advocacy, Neurology/Nervous System Diseases

What is Sturge-Weber Syndrome?

Karen Ball, founder of the Surge-Weber Foundation discusses…
Jul 17, 2023| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Diagnosis

Sarcoidosis Patient’s Cancer Misdiagnosis

Frank Rivera, a patient with sarcoidosis, discusses his…
Jul 14, 2023| Posted in: Advocacy, Congenital And Genetic Conditions, Neurology/Nervous System Diseases

Lennox-Gastaut Syndrome: Overview and Managing Treatment-Resistant Seizures

Tracy Dixon-Salazar, PhD, Executive Director of the Lennox-Gastaut…
Jul 12, 2023| Posted in: Advocacy, Congenital And Genetic Conditions

Tatton Brown Rahman Syndrome Research

Jill Kiernan, executive director of the TBRS Community,…

Accelerating Time to Diagnosis: The Global Commission to End the Diagnostic Odyssey for Children With a Rare Disease

The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease is a multidisciplinary collaboration of experts from around the world co-chaired by Takeda, Microsoft and EURORDIS-Rare Diseases Europe, who have brought together their creativity, technological expertise and commitment to accelerate the time to diagnosis for children with a rare disease.

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.

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.

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.

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: 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.

Spinal Muscular Atrophy CME Program

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.

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

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