Latest Summaries
May 14, 2022| Drug Development, Neurology/Nervous System Diseases, Regulations, Treatment
FDA Approves Oral Formulation of Edaravone to Treat ALS
The oral formulation can be administered orally or… May 12, 2022| Drug Development, Ophthalmology/Eye Diseases, Treatment
Efficacy of Verkazia to Treat Rare Eye Infection (Vernal Keratoconjunctivitis)
Dr. Sherif El-Harazi discusses the availability of the… May 11, 2022| Congenital And Genetic Conditions, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Treatment
3-Year Data from FIREFISH Demonstrates Long-Term Safety and Efficacy of Risdiplam in SMA Type 1
Dr. Dalia Moawad, Head of Neurological Rare Diseases… May 10, 2022| 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 9, 2022| Congenital And Genetic Conditions, Diagnosis, Lysosomal Storage Disorders, Neurology/Nervous System Diseases, Treatment
New CME Program Focused on MPS II (Hunter Syndrome)
Dr. Barbara Burton leads a CME program focused… May 6, 2022| Congenital And Genetic Conditions, Drug Development, Endocrine Disorders, Musculoskeletal Diseases
CEO of Inozyme Shares Preliminary Data From ENPP1 Deficiency Clinical Trial
Axel Bolte, CEO of Inozyme Pharmaceuticals, shares early… May 5, 2022| Congenital And Genetic Conditions, Diagnosis, Lysosomal Storage Disorders, Neurology/Nervous System Diseases
Overview of GM1 Gangliosidosis
Dr. David Weinstein provides an overview of GM1… May 4, 2022| Congenital And Genetic Conditions, Diagnosis, Hematologic Disorders, Lysosomal Storage Disorders, Neurology/Nervous System Diseases, Treatment
Learn About Gaucher Disease and Obtain CME Credit
Dr. Gregory Grabowski leads a CME program focused… May 3, 2022| 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… May 3, 2022| Advocacy, Congenital And Genetic Conditions, Diagnosis, Lysosomal Storage Disorders, Neurology/Nervous System Diseases
What Is Metachromatic Leukodystrophy (MLD)?
Dean Suhr, President and Co-Founder of the MLD… May 2, 2022| Advocacy, Congenital And Genetic Conditions, Lysosomal Storage Disorders, Neurology/Nervous System Diseases
We Cannot Rely on Clinical Diagnostics to Find MPS Patients
Dr. Matthew Ellinwood, Chief Scientific Officer at the… Apr 29, 2022| Congenital And Genetic Conditions, Drug Development, Heart Diseases, Treatment
FDA Approves Mavacamten to Treat Obstructive Hypertrophic Cardiomyopathy
The cost of mavacamten is expected to be… Apr 29, 2022| Congenital And Genetic Conditions, Diagnosis
Screening Versus Diagnosing
Genetic Counselor Jennifer Saucier explains the difference between… Apr 28, 2022| Congenital And Genetic Conditions, Diagnosis, Neurology/Nervous System Diseases
Galactosemia Family Stories
Parents of patients with Type 1 galactosemia tell… Apr 28, 2022| Congenital And Genetic Conditions, Diagnosis, Neurology/Nervous System Diseases
A Family’s Diagnostic Journey With AADC Deficiency
Richard Poulin, father of a young girl with… Apr 27, 2022| Congenital And Genetic Conditions, Diagnosis, Lysosomal Storage Disorders, Neurology/Nervous System Diseases
What Is Niemann-Pick Disease Type C (NPC)?
Dr Marc Patterson, of the Mayo Clinic, explains… Apr 26, 2022| Congenital And Genetic Conditions, Diagnosis, Drug Development, Musculoskeletal Diseases
ENPP1 Deficiency Overview
Axel Bolte, CEO of Inozyme Pharmaceuticals, gives an… Apr 25, 2022| Congenital And Genetic Conditions, Diagnosis, Gastrointestinal Diseases, Metabolic Disorders
How to Treat Patients With Progressive Familial Intrahepatic Cholestasis (PFIC)
Dr. Diedre Kelly of the University of Birmingham… Apr 22, 2022| Congenital And Genetic Conditions, Diagnosis, Drug Development, Skin Conditions
What Is Dystrophic Epidermolysis Bullosa?
Juan Roman, Vice President at Krystal Biotech, gives… Apr 21, 2022| 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, Skin Conditions, Treatment