Advocacy

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients.

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.

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.

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.”

Richard F. Riedel, MD, Medical Oncologist, Duke Health, discusses tyenosynovial giant cell tumors (TGCT)

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 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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 (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.

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) 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).

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 (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders.

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 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 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.