Congenital and Genetic Conditions
May 27, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Lysosomal Storage Disorders
Dror Bashan, President and CEO of Protalix Biotherapeutics…
Protalix’ Fabry Disease Clinical Program
May 21, 2020| Posted in: Cancers, Congenital And Genetic Conditions, News, Treatment
Eric Jonasch, MD, Professor, Department of Genitourinary Medical…
Data from Von-Hippel-Lindau Clinical Trial Shows Promise for HIF-2a Inhibitor
May 20, 2020| Posted in: Congenital And Genetic Conditions, Metabolic Disorders, Musculoskeletal Diseases
Heather A. Lau, MD, Director, Lysosomal Storage Disease…
Overview of the Mucopolysaccharidoses
May 15, 2020| Posted in: Congenital And Genetic Conditions, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Skin Conditions
Ozlem Goker-Alpan, MD, provides a summary of research…
Fabry Disease Research Highlights: Earn CME/CNE Credit
May 14, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Expert Perspectives, Neurology/Nervous System Diseases, News, Treatment
Rami Levin, CEO of Saniona, a pharmaceutical company…
Prader-Willi Syndrome: Phase 2 Clinical Trial Results With Tesomet
May 13, 2020| Posted in: Congenital And Genetic Conditions, Drug Development, Neurology/Nervous System Diseases
Michael Snape, PhD, Chief Scientific Officer at AMO…
AMO Pharma’s Pipeline: CMD, Phelan-McDermid, and Rett Syndrome
May 11, 2020| Posted in: Advocacy, Congenital And Genetic Conditions, Diagnosis, Expert Perspectives, Gastrointestinal Diseases, Metabolic Disorders
Shannon Palmatier has two sons with progressive familial…
Progressive Familial Intrahepatic Cholestasis (PFIC): A Diagnostic Odyssey
May 9, 2020| Posted in: Advocacy, Congenital And Genetic Conditions, Diagnosis, Expert Perspectives, Heart Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Treatment
Cyndi Frank, of the Gaucher Community Alliance explains…
Podcast: Diagnosing Gaucher Disease Before the ERT Era
May 8, 2020| Posted in: Congenital And Genetic Conditions, Endocrine Disorders, Neurology/Nervous System Diseases, News, Ophthalmology/Eye Diseases, Regulations, Treatment
Ovid Pharmaceutics has announced their novel delta (δ)-selective…
Positive Phase 2 Data With GABA-A Agonist to Treat Fragile X Syndrome
May 7, 2020| Posted in: Congenital And Genetic Conditions, Expert Perspectives, Musculoskeletal Diseases
Michael Snape, PhD, Chief Scientific Officer at AMO…
Congenital Myotonic Dystrophy
