Latest Summaries

Oct 21, 2020| Hematologic Disorders

Thrombotic Thrombocytopenic Purpura Episodes Can be Life Threatening

Joel, a patient with thrombotic thrombocytopenic purpura (TTP),…
Oct 19, 2020| Cancers, Endocrine Disorders, Metabolic Disorders, Skin Conditions

Acromegaly Overview

Lisa Nachtigall MD, Clinical Director, Neuroendocrine and Pituitary…
Oct 14, 2020| Cancers, Endocrine Disorders, Metabolic Disorders, Treatment

Treatment Options for Acromegaly

Susan Samson, MD, PhD, of Baylor College of…
Oct 13, 2020| Hematologic Disorders

Thrombotic Thrombocytopenic Purpura: Common Symptoms

Joel, a patient with thrombotic thrombocytopenic purpura (TTP)…
Oct 12, 2020| Cancers, Congenital And Genetic Conditions, Treatment

Past, Present, and Future Treatment Options for Desmoid Tumors

Mary Smith, PhD of SpringWorks Therapeutics explains the…
Oct 9, 2020| Cancers, Hematologic Disorders

Renowned Comic Book Artist Raises Awareness for MPN Patients

J.G. Jones, comic book artist known for his…
Oct 7, 2020| Cancers, Congenital And Genetic Conditions

What are Desmoid Tumors

Mary Smith, Ph.D. of SpringWorks Therapeutics explains the…
Oct 2, 2020| Advocacy, Drug Development

Role of Patient Groups in Drug Development

Emil Kakkis, MD, President and Founder of Ultragenyx…
Oct 2, 2020| Advocacy, News

A Preview of NORD’s Rare Summit 2020

Peter Saltonstall, President and Chief Executive Officer of…

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.

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: 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.

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).

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

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: 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.

Disease Categories

Topics

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.

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.

Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients.

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).

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.

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