Latest Summaries
Mar 8, 2021| Congenital And Genetic Conditions, Diagnosis, Metabolic Disorders, Musculoskeletal Diseases, Ophthalmology/Eye Diseases
What is Sly Syndrome
Deborah Marsden, MD, Global Medical Affairs Lead at… Mar 8, 2021| Advocacy, Congenital And Genetic Conditions, Lysosomal Storage Disorders, Regulations
Advice for Geneticists Performing Newborn Screenings
Damara Ortiz, MD, FAAP, FACMG, Assistant Professor of… Mar 5, 2021| Diagnosis, Heart Diseases, Lysosomal Storage Disorders, Neurology/Nervous System Diseases
The Benefits of Newborn Screening for Pompe Disease
Priya Kishnani, MD, Professor of Pediatrics at the… Mar 5, 2021| Advocacy, Endocrine Disorders, Neurology/Nervous System Diseases
“If He Got His Hands on It, He Wouldn’t Stop Eating It”: Raising a Child with Hypothalamic Obesity
Chelsea Johnson, mother of a boy with hypothalamic… Mar 4, 2021| Cancers, Hematologic Disorders
New Prognostic Index for Burkitt Lymphoma
Andrew M. Evens, DO, Director of the Lymphoma… Mar 4, 2021| Congenital And Genetic Conditions, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases
Is It Safe For Pregnant Fabry Patients to Continue ERT?
Dawn Laney, MS, CGC, CCRC, Assistant Professor, and… Mar 4, 2021| Congenital And Genetic Conditions, Diagnosis, Musculoskeletal Diseases, Neurology/Nervous System Diseases
Telling New Parents About a Rare Disease Diagnosis: SMA
Regina Phillips, mother of a three-year-old diagnosed with… Mar 3, 2021| Diagnosis, Heart Diseases, Lysosomal Storage Disorders, Neurology/Nervous System Diseases
Newborn Screening and Pompe Disease: A Mother’s Perspective
Melanie McKay, mother of a young boy with… Mar 2, 2021| Congenital And Genetic Conditions, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Ophthalmology/Eye Diseases
What Doctors May Not Know About Cystinosis
Stephanie Cherqui, PhD, from the University of California,… Mar 1, 2021| Congenital And Genetic Conditions, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases
FDA Approves Fosdenopterin to Treat Rare Neurological Condition
The U.S. Food and Drug Administration (FDA) has… Mar 1, 2021| 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
History of NORD
Marsha Lanes, MS, CGC, of the National Organization… Feb 27, 2021| Autoimmune / Autoinflammatory Disorders, 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
Study Suggests Advanced Fabry Disease Leads to More Severe COVID-19 Course
Dawn Laney, MS, CGC, CCRC, Assistant Professor, and… Feb 27, 2021| Advocacy, Congenital And Genetic Conditions, Musculoskeletal Diseases, Neurology/Nervous System Diseases
Why is Rare Disease Day Important?
Emily Holtvluwer, mother of two children with spinal… Feb 26, 2021| Advocacy, Lysosomal Storage Disorders
Educating Children Needing ERT About Safety Measures During Covid-19 Pandemic
Matheus Wilke of the Hospital de Clinicas de… Feb 26, 2021| Advocacy, Heart Diseases, Lysosomal Storage Disorders, Neurology/Nervous System Diseases
Rare Disease Art Using Vial Tops
Melanie McKay, mother of a young boy with… Feb 26, 2021| Drug Development, Heart Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Treatment
Exciting Research on Gaucher Disease is Underway
Reena Kartha, PhD, Associate Director of Translational Pharmacology… Feb 25, 2021| Congenital And Genetic Conditions, Drug Development, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Treatment
FDA Approved Third Exon-Skipping Drug for DMD
The U.S. Food and Drug Administration (FDA) has… Feb 25, 2021| Congenital And Genetic Conditions, Diagnosis, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Skin Conditions
Can Artificial Intelligence Help Diagnose Fabry Disease?
John Jefferies, MD, of the University of Tennessee… Feb 25, 2021| Congenital And Genetic Conditions, Diagnosis, Musculoskeletal Diseases, Neurology/Nervous System Diseases
Newborn Screening for Spinal Muscular Atrophy
Regina Phillips, mother of a three-year-old diagnosed with… Feb 25, 2021| Congenital And Genetic Conditions, Kidney And Urinary Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Ophthalmology/Eye Diseases