Latest Summaries
ENPP1 and ABCC6 Deficiency Data Presented at ASBMR 2024
Kurt Gunter, MD, Senior Vice President and Chief…Fabry Disease: Overview, Diagnosis, and Personalized Treatment Plans
Fabry disease an X-linked genetic disorder that leads…Interim Data from the FORWARD-53 Trial for Duchenne Muscular Dystrophy
Paul Bolno, CEO, and Anne-Marie Li-Kwai-Cheung, Chief Development…Type 1 Galactosemia: Significant Unmet Need, Lifelong Complications, and Current Management
Type 1 galactosemia is a rare genetic disease…Rett Syndrome
Rett syndrome is a multisystem disorder that primarily…Cutaneous T-Cell Lymphoma
Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin…Navigating Diagnosis and Treatment for Primary Biliary Cholangitis: The Integral Role of the Patient Voice
Dr. Sonal Kumar, an Assistant Professor of Medicine,…Caregivers’ Experiences With Frontotemporal Dementia
Tiffany Chow, MD, Behavioral Neurologist, Vice President of…Tenosynovial Giant Cell Tumor (TGCT)
Tenosynovial giant cell tumor (TGCT) is a rare…Efficacy of Vosoritide in Genetic Skeletal Conditions
Andrew Dauber, MD, Chief of Endocrinology at Children’s…Results from the HIMALAYA Clinical Trial for Hepatocellular Carcinoma
Shubh Goel, VP, Head of Immuno-Oncology and GI…Investigational Drug for Fragile X Syndrome Improves Cognition
Elizabeth Berry-Kravis, MD, PhD, Pediatric Neurologist at Rush…FDA Approves First Treatment for Niemann Pick Type C
The US Food and Drug Administration has approved…The GRIN2B Foundation
Liz Marfia-Ash, President and Founder of GRIN2B Foundation,…Orphan Drug Designation Granted for X-Linked Retinoschisis Gene Therapy
A new gene therapy for X-linked retinoschisis (XLRS)…Results from Clinical Trial Testing Investigational Drug for GRIN-Related Disorders
Bruce Leuchter, MD, co-founder and CEO of Neurvati…Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare primary immunodeficiency…FDA Grants Rare Pediatric Disease Designation to NS-050/NCNP-03 for the Treatment of Duchenne Muscular Dystrophy
The U.S. Food and Drug Administration (FDA) has…Genetic Associations With ALS Reversals
Richard Bedlack, MD, PhD, Stewart, Hughes and Wendt…Investigational Therapy for Dermatomyositis
Ben Zimmer, CEO of Priovant Therapeutics, discusses the…Type 1 Galactosemia: Significant Unmet Need, Lifelong Complications, and Current Management
Type 1 galactosemia is a rare genetic disease that can be life-threatening in newborns and can lead to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women.
Cutaneous T-Cell Lymphoma
Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders.
Myasthenia Gravis and the Complement System
James F Howard Jr, MD, Professor of Neurology, Medicine & Allied Health at The University of North Carolina at Chapel Hill, highlights the connection between the complement system and myasthenia gravis in regards to the pathophysiology and treatment of this rare disease.
New Guidance to Diagnose and Treat Tumor-induced Osteomalacia (TIO)
Aliya Khan, MD, Clinical Professor of Medicine at McMaster University, highlights the best practices to diagnose and treat tumor induced osteomalacia (TIO) based on the recently published global guidance document in the Journal of Internal Medicine.
Learn About WHIM Syndrome
WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with neutropenia that typically presents in childhood or adolescence, predominantly caused by pathogenic variants in the CXCR4 chemokine receptor gene.
WHIM Syndrome Learning Center
WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be delayed, sometimes even into adulthood.
Tenosynovial Giant Cell Tumors (TGCT) Explained
Richard F. Riedel, MD, Medical Oncologist, Duke Health, discusses tyenosynovial giant cell tumors (TGCT)
Assessing, Monitoring, and Managing Respiratory Involvement in Lysosomal Disorders
Ozlem Gore-Alpan, MD of LDRTC and John Bach, MD, Professor of Neurology at Rutgers School of Medicine discuss best practices to manage respiratory complications in persons with lysosomal disorders.
Warm Autoimmune Hemolytic Anemia (wAIHA)
Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes current best practices for diagnosing and managing patients with wAIHA.
Managing Cardiomyopathies in Lysosomal Disorders
Ozlem Goker-Alpan, MD, Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and John Jefferies, MD discuss lysomal orders.
Cutaneous T-Cell Lymphoma Learning Center
Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders. It is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people.
Tenosynovial Giant Cell Tumor (TGCT)
Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).