Axel Bolte, MSc, MBA, Co-Founder, President, and Chief Executive Officer, Inozyme Pharmaceuticals, gives an overview of ENPP1 deficiency. 2 weeks ago 
Dr. Angela Scheuerle, at the UT Southwestern Medical Center, discusses the importance of collaboration between clinicians to improve clinical outcomes. 2 weeks ago 
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 
The overall cost estimate for all rare disease is $7.2 trillion - $8.6 trillion per year, according to this study. 1 month ago 
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 
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 
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 
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 
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 
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 
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 
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 
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 
Parents of patients with Type 1 galactosemia tell stories of their children’s diagnoses, and their own experience with classic galactosemia. 3 months ago 
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 
A group of leading experts in metabolic disorders, advocates, and family representatives attended a virtual conference to discuss Type 1 galactosemia. 4 months ago 
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 
Richard Poulin discusses his daughter’s positive experience with an investigational gene therapy for aromatic L-amino acid decarboxylase (AADC) deficiency. 5 months ago
