Advocacy
Incidence of Autoimmune Disease Increased After Surgical Remission of Cushing
Patients achieving surgical remission of Cushing disease have…Risk Stratification Can Predict Outcomes for CAR T-Cell Therapy in Lymphoma
For patients with DLBCL, a simple risk stratification…The Importance of Rare Disease Registries
Alaa Hamed, MD, Global Head of Medical Affairs…LDRTC Symposium: Newborn Screening and Lysosomal Disorders
This symposium, led by Ozlem Goker-Alpan, MD of…Female Experiences With Fabry Disease
Julia Alton discusses the poster “Exploring the experience…Rare Disease Day 2024
Rare Disease Day serves as a global call…FDA: CAR T-Cell Therapies May Increase Risk for Rare Secondary Cancers
Twenty-five reports of rare blood cancers in patients…Improving Newborn Screening
Nicole Miller, PhD, explains the importance of improving…How Social Media Can Foster Community for Sickle Cell Disease Patients
Orlando Agrippa, Founder and CEO of Sanius Health,…New Report Shows Rare Diseases Costs 15X More Than Common Diseases
Giacomo Chiesi, discusses report "Rare Disease Burden of…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.
Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Learning Center
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients.
CTCL: Challenges of Treating People of Color
Luis Malpica Castillo, MD, Assistant Professor, Department of Lymphoma/Myeloma, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, discusses cutaneous T-cell lymphoma (CTCL) and the challenges of treating people of color.
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.
AADC Deficiency: Overview, Diagnosis Challenges, and Emerging Therapies
Philip L. Pearl, MD, Director, Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital, William G. Lennox Chair and Professor of Neurology, Harvard Medical School, Boston, MA discusses aromatic L-amino acid decarboxylase (AADC) deficiency and the recently published paper in Molecular Genetics and Metabolism: “Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.”
Tenosynovial Giant Cell Tumors (TGCT) Explained
Richard F. Riedel, MD, Medical Oncologist, Duke Health, discusses tyenosynovial giant cell tumors (TGCT)
Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
First characterized 30 years ago, aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients. AADC deficiency is caused by defect in the dopa decarboxylase (DDC) gene, which leads to a reduction in the critical neurotransmitters dopamine, norepinephrine, epinephrine, and melatonin in the brain.
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.
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.
Alpha-Mannosidosis: Disease Overview, Signs and Symptoms, Emerging Therapies
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).
CTCL: Criteria to Diagnose, Counsel Patients, and Work-Up for Early-Stage Mycosis Fungoides
Jennifer Alston DeSimone, MD, FAAD, Associate Professor, University of Virginia School of Medicine; Assistant Professor, Georgetown University Hospital; Director, Cutaneous Lymphoma and High Risk/Transplant Dermatology; INOVA Schar Cancer Institute Melanoma and Skin Oncology Center discusses cutaneous T-cell lymphoma.
An Overview of Alagille Syndrome: Prevalence, Etiology, Diagnosis, and Treatment
Alagille syndrome is a rare disease that typically presents in infants within the first three months of life. Patients may present a wide spectrum of signs and symptoms.
Building and Maintaining a Multidisciplinary Team for Lysosomal Disorders
Ozlem Goker-Alpan, MD, Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Walla Al-Hertani, MD, Associate Professor of Pediatrics at Boston Children’s Hospital discuss lysomal disorders.
Fabry Disease Research Highlights
Staci Kallish, DO, Associate Professor of Clinical Medicine at the University of Pennsylvania Health System Penn Medicine, provides an overview of the latest clinical research focused on Fabry disease.
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.
Cushing’s Disease / Cushing’s Syndrome Research Highlights
Richard Auchus, MD, PhD Professor at the University of Michigan, provides an overview of the latest clinical research presented at ENDO 2022 involving Cushing’s disease and Cushing’s syndrome.
GH Deficiency Research Highlights
Paul Saenger, MD MACE, Albert Einstein College of Medicine, discusses, GHD is a rare endocrine disorder characterized by insufficient levels of growth hormone being secreted from the anterior pituitary gland.
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.
Cushing’s Disease Research Highlights: ENDO 2023
Lisa Machtigall, MD, Clinical Director, Neuroendocrine & Pituitary Tumor Clinical Center at Massachusetts General Hospital, and Associate Professor of Medicine at Harvard Medical School, provides an overview of the latest clinical research presented at ENDO 2023 involving Cushing’s disease.
Myasthenia Gravis Research Highlights: AAN 2023
Vera Bril, MD, of the University Hospital Network in Toronto, Canada, provides an overview of the latest clinical research presented at AAN 2023 focused on myasthenia gravis.
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.
PAH Research Highlights: CHEST 2022
Jean Elwing, MD, of the University of Cincinnati College of Medicine provides an overview of the latest clinical research about PAH presented at CHEST 2022.
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).
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
Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders.
Warm Autoimmune Hemolytic Anemia
Irina Murakhovskaya, MD and Bruno Fattizzo, MD discuss warm autoimmune hemolytic anemia (wAIHA) is the most common type of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis.
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.
Rett Syndrome
Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome.