What Is ENPP1 Deficiency?

Axel Bolte, MSc, MBA, Co-Founder, President, and Chief Executive Officer, Inozyme Pharmaceuticals, gives an overview of ENPP1 deficiency. 2 weeks ago

Collaboration Is Key: How Cooperation Among HCPs Benefits Individuals and Communities

Dr. Angela Scheuerle, at the UT Southwestern Medical Center, discusses the importance of collaboration between clinicians to improve clinical outcomes.  2 weeks ago

Mucopolysaccharidoses and Mucolipidoses Explained

Dr. Matthew Ellinwood, Chief Scientific Officer at the MPS Society, provides an overview of rare diseases the society is involved with [mucopolysaccharidoses (MPSs) and mucolipidoses (MLs)]. 4 weeks ago

Rare Diseases Cost Ten Times More Than Common Diseases 

The overall cost estimate for all rare disease is $7.2 trillion - $8.6 trillion per year, according to this study. 1 month ago

New Report Estimates the Number of Rare Diseases Is More Than 10,000 

Kirk Lamoreaux, discusses ‘The Power of Being Counted,’ a report that was recently announced, which found that there are as many as 10,867 rare diseases. 2 months ago

NORD’s Rare Disease Centers of Excellence Benefits Individuals and Communities

Dr. Priya Kishnani at Duke University School of Medicine, discusses the NORD’s Rare Disease Centers of Excellence, of which the Duke Health Rare Disease Center is one. 2 months ago

Positive Updated Results from MajesTEC-1 Study in Relapsed/Refractory Multiple Myeloma

Dr. Ajay  Nooka, of the Emory School of Medicine, discusses the latest data testing teclistamab in patients with relapsed/refractory multiple myeloma.  2 months ago

RNA-Based Therapy For Dravet Syndrome

As Dr. Barbier of CAMP4 Therapeutics explains, CMP-SCN is an investigational RNA-based therapy designed to directly upregulate gene expression of SCN1A 2 months ago

ASCO 2022: Efficacy of Cabozantinib + Atezolizumab to Treat Urothelial Carcinoma

Dr. Sumanta K. Pal, of the City of Hope Comprehensive Cancer Center, discusses results from the COSMIC-021 study, testing cabozantinib plus atezolizumab in urothelial carcinoma patients. 2 months ago

Latest Results from the CARTITUDE-2 Study Testing Cilta-cel in Multiple Myeloma Patients

As Dr. van de Donk explains, overall response rate was 100.0%, complete response or more was 90%, and very good partial response or more was 95% in the phase 2 clinical trial. 2 months ago

Average Time to Diagnose Tenosynovial Giant Cell Tumors (TGCT) Is 17 Months

Tomek Szczudlo, VP, Global Medical Affairs at Daiichi Sankyo, lists diagnostic delays as a key priority that physicians should be aware of about tenosynovial giant cell tumors (TGCT). 2 months ago

Why Early Diagnosis of AADC Deficiency Is Crucial

Richard Poulin, father of a young girl with aromatic L-amino acid decarboxylase (AADC) deficiency, discusses the importance of an early diagnosis of this very rare disease. 2 months ago

Positive Data from Regenxbio’s Gene Therapy Trials for MPS I and MPS II

Steve Pakola, MD discusses data from the ongoing gene therapy trials in children with mucopolysaccharidosis type I (MPS I) and mucopolysaccharidosis type II (MPS II). 3 months ago

Galactosemia Family Stories

Parents of patients with Type 1 galactosemia tell stories of their children’s diagnoses, and their own experience with classic galactosemia. 3 months ago

Data from Phase 3 Gene Therapy Trial in Hemophilia B Patients Very Encouraging

Steven Pipe, MD, at the University of Michigan, discusses the long-term results from the phase 3 HOPE-B clinical trial evaluating etranacogene dezaparvovec (EtranaDez), an investigational gene therapy for hemophilia B. 4 months ago

Type 1 Galactosemia Roundtable Discussion

A group of leading experts in metabolic disorders, advocates, and family representatives attended a virtual conference to discuss Type 1 galactosemia. 4 months ago

The NORD Rare Disease Centers of Excellence

Dr Edward Neilan of NORD discusses how the NORD Rare Disease Centers of Excellence has identified 11 potential working groups to tackle unmet needs within the rare disease community. 5 months ago

Its Night and Day:  A Parent’s Experience With Gene Therapy for AADC Deficiency

Richard Poulin discusses his daughter’s positive experience with an investigational gene therapy for aromatic L-amino acid decarboxylase (AADC) deficiency. 5 months ago