Media

LDRTC Symposium: Newborn Screening and Lysosomal Disorders

This symposium, led by Ozlem Goker-Alpan, MD of the Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) reviews the current state of newborn screening (NBS) for lysosomal disorders and the need for newer guidelines to address the many unmet needs. 2 months ago
CTCL: Mycosis Fungoides and Sézary Syndrome

CTCL: Mycosis Fungoides and Sézary Syndrome

Joan Guitart, MD, Northwestern University, discusses two subtypes of cutaneous T-cell lymphoma (CTCL): mycosis fungoides and sézary syndrome. 2 months ago

Cutaneous T-Cell Lymphoma

Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders. Cutaneous T-cell lymphoma is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people and represents around 70% of primary cutaneous lymphomas. 4 months ago
Type 1 Galactosemia: Significant Unmet Need

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. 4 months ago

Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the nervous and musculoskeletal systems of young patients. 4 months ago

Rett Syndrome

Rett syndrome is a multisystem disorder that primarily affects girls; multiple loss-of-function mutations to the MECP2 gene are the cause of this rare disease. 4 months ago

Learn About WHIM Syndrome

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. 4 months ago
Tenosynovial Giant Cell Tumors Overview

Tenosynovial Giant Cell Tumors (TGCT) Explained

Richard F. Riedel, MD, Medical Oncologist, Duke Health, discusses tyenosynovial giant cell tumors (TGCT) 4 months ago

Fibrodysplasia Ossificans Progressiva (FOP)

Robert J. Pignolo, MD, Professor at Mayo Clinic, Rochester, MN, discusses fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by the organization of heterotopic hard tissues within the soft tissues, such as ligaments, tendons, and skeletal muscle. 4 months ago
Alagille Syndrome

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 with a wide variety of symptoms. 6 months ago

Thyroid Eye Disease: Overview, Diagnosis, and Current and Emerging Treatment Options

Raymond Douglas, MD, PhD, clinician and thought leader in thyroid eye disease (TED), provides an overview of TED, including diagnosis challenges and current and emerging treatments for this rare disease. 7 months ago

Treatment Options for FOP Patients

Dr. Mona Al Mukaddam of Penn Medicine describe the treatment option for FOP, a rare disorder in which persons develop a secondary skeleton. 7 months ago
FDA Approves Givinostat for Treatment of Duchenne Muscular Dystrophy

FDA Approves Elranatamab to Treat Relapsed/Refractory Multiple Myeloma

The orphan drug is approved for patients who have received at least four prior lines of therapy, including a proteasome inhibitor, an immunomodulatory agent, and an anti-CD38 monoclonal antibody. 9 months ago

AADC Deficiency: Overview, Diagnosis Challenges, and Emerging Therapies

Philip L. Pearl, MD, Harvard Medical School, Boston, MA, discusses aromatic L-amino acid decarboxylase (AADC) deficiency. 9 months ago
Lennox-Gastaut Syndrome (LGS)

Lennox-Gastaut Syndrome

Tracy Dixon-Salazar, PhD, Executive Director of the Lennox-Gastaut Syndrome (LGS) Foundation, provides an overview of the disease, the disorder’s unique resistance to treatment, and what the foundation is doing to help this patient community. 10 months ago
Overview of Progressive Familial Intrahepatic Cholestasis

An Overview of Progressive Familial Intrahepatic Cholestasis

Progressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare genetic diseases that result in reduced bile flow from the liver, also called cholestasis. 11 months ago

CTCL: Challenges of Treating People of Color

Luis Malpica Castillo, MD, The University of Texas MD Anderson Cancer Center, discusses cutaneous T-cell lymphoma (CTCL)  and the challenges of treating people of color. 1 year ago