Regulations

Jun 1, 2021| Posted in: Advocacy, Congenital And Genetic Conditions, Regulations

The Everylife Foundation’s Goals for Newborn Screening

Julia Jenkins, Executive Director at Everylife Foundation, describes…
May 28, 2021| Posted in: Cancers, Lung Diseases, Regulations, Treatment

FDA Approves Drug for Lung Cancer Mutation Once Considered “Undruggable”

The U.S. Food and Drug Administration (FDA) has…
May 26, 2021| Posted in: Congenital And Genetic Conditions, News, Regulations

Encouraging RUSP Alignment Across States for Newborn Screening

Julia Jenkins, Executive Director at Everylife Foundation, and…
Apr 8, 2021| Posted in: Drug Development, Regulations

Rare Disease Clinical Trials: Study Designs and Common Concerns

Miganush Stepanians,  PhD, President and CEO of PROMETRIKA,…
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…
Mar 29, 2021| Posted in: Cancers, Drug Development, Regulations, Treatment

FDA Approves CAR-T Cell Immunotherapy for Relapsed/Refractory Multiple Myeloma

The U.S. Food and Drug Administration (FDA) has…
Mar 18, 2021| Posted in: Lysosomal Storage Disorders, Regulations, Treatment

Why is Newborn Screening So Confusing?

Damara Ortiz, MD, FAAP, FACMG, Assistant Professor of…

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.

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: 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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