Congenital and Genetic Conditions

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, Drug Development, Endocrine Disorders

Prader-Willi Syndrome: Overview and Potential Treatment

Rudolf Baumgartner, MD, Chief Medical Officer and Head…
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 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…

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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