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. 1 week ago

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. 2 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. 2 months ago

Lennox-Gastaut Syndrome: Overview and Managing Treatment-Resistant Seizures

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. 3 months ago

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. 4 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. 5 months ago

Biomarkers and Clinical Trials

Dr. Peter Marks of the FDA talks about the use of biomarkers in gene therapy clinical trials 6 months ago

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. 7 months ago

What is Fanconi Anemia?

Ronald Martell, President, and CEO of Jasper Therapeutics gives an overview of Fanconi anemia. 7 months ago

ENPP1 Deficiency Explained

Catherine Nester of Inozyme Pharma explains Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency. 7 months ago

FDA Approves Efanesoctocog Alfa To Treat Hemophilia A

Dr. Angela Weyand, from Michigan Medicine, discusses the safety and efficacy data of the XTEND-1 study that led to the FDA approval of efanesoctocog alfa.  7 months ago

Diagnosing Rett Syndrome

Jana von Hehn, PhD, Chief Scientific Officer of the Rett Syndrome Research Trust, discusses the challenges of diagnosing Rett syndrome. 7 months ago

FDA Approves Aflibercept for Treating Retinopathy of Prematurity

This the fifth indication approved for aflibercept but the first approved orphan drug indication. 8 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. 8 months ago

WHIM Syndrome Panel Discussion: Recognizing and Diagnosing This Rare Disease

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. 54 years ago
Podcast audio of Dr. Harrison Farber, a pulmonologist and director of the Pulmonary Embolism Response Team at Tufts Medical Center discussing a chronic rare disease that affects the circulatory system in the lungs and directly affects the ability of the lungs to function.

Impact of COVID-19 on Pulmonary Arterial Hypertension (PAH) Patient Care

Dr. Harrison Farber at Tufts Medical Center discusses a chronic rare disease that affects the circulatory system in the lungs and directly affects the ability of the lungs to function. 9 months ago

Can We Streamline How AAV Gene Therapies Are Developed?

Dr. PJ Brooks at NCATS describes the Platform Vector Gene Therapy (PaVe-GT) pilot project. 9 months ago

Survival Benefit of Birtamimab in Treating AL Amyloidosis 

Dr. Morie Gertz, of the Mayo Clinic, discusses the survival benefit of birtamimab in high-risk AL amyloidosis. 9 months ago