Congenital and Genetic Conditions

Jun 9, 2021| Posted in: Advocacy, Congenital And Genetic Conditions, News

Newborn Screening Bootcamp

Dylan Simon, Newborn Screening and Diagnostics Policy Manager…
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 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…

Niemann–Pick Disease Type C Learning Center

Niemann-Pick disease type C (NPC) is a disabling, lysosomal storage disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood.

Mucopolysaccharidosis I CME Program

Paul Orchard, MD from the University of Minnesota Medical School provides an overview of Mucopolysaccharidosis I in these CME and CNE courses. Dr. Orchard discusses the importance of newborn screening and genetic counseling, and the challenges of diagnosing and treating patients with MPS I.

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.

Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Learning Center

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

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.

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.

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: 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.

NMOSD Research Highlights: CME Program

Michael Levy, MD, PhD, Associate Professor, Harvard Medical School, provides highlights of the latest information about NMOSD, along with expert analysis of its potential clinical relevance for members of the care team in order to help them care for patients with this rare disease.

Congenital and Genetic Conditions

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