Expert Perspectives

Apr 14, 2021| Posted in: Drug Development, Hematologic Disorders, Treatment

Investigational Drug Provides Improved Quality of Life for PNH Patients

Cedric Francois, MD, PhD, Co-Founder & CEO of…
Apr 14, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis

Geneticist vs. Genetic Counselor: What’s the Difference?

Jennifer Ibrahim, MD, Head of North America Medical…
Apr 13, 2021| Posted in: Autoimmune / Autoinflammatory Disorders, Congenital And Genetic Conditions, Skin Conditions

WHIM Syndrome Panel Discussion

Jean Donadieu, MD, French Severe Chronic Neutropenia Registry;…
Apr 13, 2021| Posted in: Advocacy, Congenital And Genetic Conditions, Musculoskeletal Diseases

FSHD Patient Encourages Others to Get Involved with Patient Advocacy Groups

Amy Bekier, facioscapulohumeral muscular dystrophy (FSHD) patient and…
Apr 13, 2021| Posted in: Advocacy, Congenital And Genetic Conditions, Musculoskeletal Diseases

Advice for New SMA Parents

Stacy Pokorny, a mother of a young girl…
Apr 12, 2021| Posted in: Congenital And Genetic Conditions, Hematologic Disorders

Hemophilia in the 70s, 80s, and 90s: Fears of HIV and Hepatitis C

Jonathan Hill, a patient with hemophilia A, talks…
Apr 12, 2021| Posted in: Hematologic Disorders

Pregnancy and Thrombotic Thrombocytopenic Purpura (TTP)

Shruti Chaturvedi, MBBS, MS, from Johns Hopkins and…
Apr 9, 2021| Posted in: Drug Development, Kidney And Urinary Diseases, Treatment

Potential Treatment Option for Hepatorenal Syndrome

Florence Wong, MD, Hepatologist at Toronto General Hospital…

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

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: 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.

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: 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.

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.

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