Metabolic Disorders
Jun 23, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Metabolic Disorders
Overview of Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA)
Patrick Horn, MD, PhD, Chief Medical Officer at… Jun 22, 2022| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Diagnosis, Drug Development, Endocrine Disorders, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment
New Report Estimates the Number of Rare Diseases Is More Than 10,000
Kirk Lamoreaux, discusses ‘The Power of Being Counted,’… Jun 16, 2022| 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, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment
NORD’s Rare Disease Centers of Excellence Benefits Individuals and Communities
Dr. Priya Kishnani at Duke University School of… May 31, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Gastrointestinal Diseases, Metabolic Disorders, Regulations, Treatment
NICE Recommends Odevixibat for Progressive Familial Intrahepatic Cholestasis (PFIC)
Dr. Diedre Kelly summarizes the data presented to… May 25, 2022| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Diagnosis, Drug Development, Endocrine Disorders, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment
11 Rare Disease Research Working Groups In Development
Dr Edward Neilan of NORD discusses how the… May 23, 2022| 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, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment
NORD’s Centers of Excellence Addresses Unmet Medical Needs
As Dr. Bodamer explains, one of the goals… May 16, 2022| Posted in: Congenital And Genetic Conditions, Drug Development, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases
Positive Data from Regenxbio’s Gene Therapy Trials for MPS I and MPS II
Steve Pakola, MD discusses data from the ongoing… May 10, 2022| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Diagnosis, Drug Development, Endocrine Disorders, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment
Rare Diseases Cost 10 Times More Than Common Diseases
The overall cost estimate for all rare disease… May 3, 2022| Posted in: Congenital And Genetic Conditions, Drug Development, Metabolic Disorders
Treatment Options for Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA)
Dr. Patrick Horn, Chief Medical Officer at HemoShear… Apr 25, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Gastrointestinal Diseases, Metabolic Disorders