Neurology/Nervous System Diseases

Apr 1, 2021| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases, Neurology/Nervous System Diseases

Advice for New SMA Parents

Stacy Pokorny, a mother of a young girl…
Mar 31, 2021| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases, Neurology/Nervous System Diseases

The Typical Diagnostic Journey for FSHD Patients

Sarah Boyce, President and CEO of Avidity Biosciences,…
Mar 30, 2021| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases, Neurology/Nervous System Diseases

“I Call Myself Gadget Girl”: How One Patient Manages Her FSHD

Amy Bekier, facioscapulohumeral muscular dystrophy (FSHD) patient and…
Mar 23, 2021| Posted in: Congenital And Genetic Conditions, Drug Development, Musculoskeletal Diseases, Neurology/Nervous System Diseases

New Therapeutic Technology Provides Hope for First-Ever Approved Treatment for FSHD

Sarah Boyce, President and CEO of Avidity Biosciences,…
Mar 18, 2021| Posted in: Autoimmune / Autoinflammatory Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

Neuromyelitis Optica Spectrum Disorder (NMOSD)

Neuromyelitis optica spectrum disorder (NMOSD) is a rare…
Mar 17, 2021| Posted in: Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases

What is Metachromatic Leukodystrophy?

Francesca Fumagalli, PhD, Researcher of Cardiovascular Medicine at…
Mar 16, 2021| Posted in: Congenital And Genetic Conditions, Heart Diseases, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases

Pros and Cons of Newborn Screening for Fabry Disease

Dawn Laney, MS, CGC, CCRC, Assistant Professor, and…
Mar 12, 2021| Posted in: Heart Diseases, Lysosomal Storage Disorders, Neurology/Nervous System Diseases

New ERT for Pompe Disease As Effective as Older ERT

Priya Kishnani, MD, Professor of Pediatrics at the…
Mar 12, 2021| Posted in: Advocacy, Endocrine Disorders, Neurology/Nervous System Diseases

More Research Needed To Understand Hypothalamic Obesity

Chelsea Johnson, mother of a boy with hypothalamic…
Mar 12, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Treatment

Two Siblings with SMA Receive Gene Therapy

Emily Holtvluwer discusses the gene therapy her two…

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.

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.

Neurology/Nervous System Diseases

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