Neurology/Nervous System Diseases

Oct 21, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Treatment

SMA Patient Discusses His Experience with Risdiplam

Jim Willson, a patient with spinal muscular atrophy…

Oct 17, 2020| Posted in: Advocacy, Congenital And Genetic Conditions, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, News

How Families Cope with a New Rare Disease Diagnosis

Joslyn Crowe, executive director of the National Niemann-Pick…

Oct 14, 2020| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases, Neurology/Nervous System Diseases

SMA Adult Talks About His Diagnostic Journey

Jim Willson, a patient with spinal muscular atrophy…

Oct 8, 2020| Posted in: Congenital And Genetic Conditions, Heart Diseases, Metabolic Disorders, Neurology/Nervous System Diseases

Triheptanoin Approved to Treat Long-chain Fatty Acid Oxidation Disorders

Erik Harris, Executive Vice President and Chief Commercial…

Oct 5, 2020| Posted in: Advocacy, Congenital And Genetic Conditions, Heart Diseases, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

Video Game Tournament Provides Support for Duchenne Patients

Tiffany Cook, Family Resource Manager of CureDuchenne, discusses…

Oct 1, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Endocrine Disorders, Neurology/Nervous System Diseases, Treatment

Gene Therapy Shows Promise for Cerebral Adrenoleukodystrophy (CALD)

Jörn-Sven Kühl, MD, Department of Pediatric Oncology, Hematology…

Sep 29, 2020| Posted in: Congenital And Genetic Conditions, Lysosomal Storage Disorders, Neurology/Nervous System Diseases, Treatment

Influence of COVID-19 on Lysosomal Storage Disease Patients in Israel

Shoshana Revel-Vilk, MD, Shaare Zedek Medical Center, Israel…

Sep 27, 2020| Posted in: Advocacy, Congenital And Genetic Conditions, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Overview

Kelly Heger, Founder of the AADC Family Network, provides…

Sep 18, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Expert Perspectives, Neurology/Nervous System Diseases

Ovid Therapeutics Collaborating with UConn to Develop Angelman Syndrome Treatment

Stormy Chamberlain, PhD, from the University of Connecticut,…

Sep 17, 2020| Posted in: Congenital And Genetic Conditions, Neurology/Nervous System Diseases

Enroll-HD Provides Researchers with Standardized Huntington’s Disease Dataset

Swati Sathe, MD, Medical Director of the Cure…

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

Topics