Neurology/Nervous System Diseases

Sep 23, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

When to Suspect AADC Deficiency in a Baby

Kylie O’Keefe of PTC Therapeutics describes signs and…
Sep 23, 2021| Posted in: Congenital And Genetic Conditions, Drug Development, Neurology/Nervous System Diseases

 Targeted Therapy for Huntington Disease

Michael Panzara, MD at Wave Life Sciences explains…
Sep 22, 2021| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Diagnosis, Drug Development, Endocrine Disorders, Expert Perspectives, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, News, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment

What the NORD Breakthrough Summit Will Look Like in 2021

Mary Dunkle of NORD discusses the upcoming Rare…
Sep 21, 2021| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Diagnosis, Drug Development, Endocrine Disorders, Expert Perspectives, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, News, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment

CheckRare Panel Discussion: Data Silos Are Hindering Rare Disease Research

Great conversation with Drs Paul Howard, Eric March,…
Sep 17, 2021| Posted in: Neurology/Nervous System Diseases

What is Lennox-Gastaut Syndrome?

Tracy Dixon-Salazar, PhD, Executive Director of the Lennox-Gastaut…
Sep 15, 2021| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

Survey Showcases the Overwhelming Burden that AADC Deficiency Has on Caregivers  

Kylie O’Keefe, of PTC Therapeutics, describes signs and…
Sep 14, 2021| Posted in: Drug Development, Neurology/Nervous System Diseases

How Sleep Is Measured in a Narcolepsy Clinical Trial

Clete A. Kushida, MD, PhD, Neurologist and Division…
Sep 8, 2021| Posted in: Congenital And Genetic Conditions, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

Niemann-Pick Community Devastated by FDA’s Denial of Approval of Arimoclomol

Joslyn Crowe, executive director of the National Niemann-Pick…
Sep 3, 2021| Posted in: Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Drug Development, Endocrine Disorders, Gastrointestinal Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, News, Ophthalmology/Eye Diseases, Skin Conditions, Treatment

2021 Orphan Drugs: PDUFA Dates and FDA Approvals

Rare diseases and orphan drugs are at the…
Sep 1, 2021| Posted in: Advocacy, Congenital And Genetic Conditions, Drug Development, Musculoskeletal Diseases, Neurology/Nervous System Diseases

How the SMA Foundation is Expanding Research

Karen Chen, PhD, Chief Executive Officer of the…

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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