Diagnosis

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 9, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Metabolic Disorders, Musculoskeletal Diseases, Ophthalmology/Eye Diseases

What is Sly Syndrome

Deborah Marsden, MD, Global Medical Affairs Lead at…
Apr 8, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis

Talking to Parents About Newborn Screening

Dawn Laney, MS, CGC, CCRC, Genetic Counselor and…
Apr 7, 2021| Posted in: Cancers, Diagnosis, Endocrine Disorders, Metabolic Disorders

Diagnosing Acromegaly

Roberto Salvatori, MD, Medical Director, Johns Hopkins Pituitary…
Apr 6, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Regulations

The Geneticist’s Role in Diagnosing and Treating Rare Diseases

Jennifer Ibrahim, MD, Head of North America Medical…
Apr 6, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Musculoskeletal Diseases

FSHD Patient’s Diagnostic Journey

Amy Bekier, facioscapulohumeral muscular dystrophy (FSHD) patient and…

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.

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

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