Improving Rare Disease Awareness: Paul Wuh-Liang Hwu, MD, PhD
The professor from National Taiwan University Hospital discussed the importance of Rare Disease Day for raising awareness.
“The first step to work on in rare disorders is the diagnosis. In order to increase diagnoses, we need to increase awareness. In order to increase awareness, I think the best way is better education. So, we need to persuade authorities that this education is very important, and they should represent a certain percentage of their continuing education program to cover those rare disorders.”
Monday, February 28, is international Rare Disease Day. Rare diseases affect over 300 million people worldwide, with over 7000 diseases designated as rare.
Companies are developing gene and cell therapies for rare diseases such as Pompe disease and aromatic L-amino acid decarboxylase (AADC) deficiency, including PTC Therapeutics’ gene therapy PTC-AADC. Paul Wuh-Liang Hwu, MD, PhD, professor of pediatrics, National Taiwan University Hospital, serves as investigator on the PTC-AADC trials.
CGTLive spoke with Hwu about Rare Disease Day, rare disease awareness, and physician education. He also discussed the importance of patient advocacy and the improvements that still need to be made in these areas to advance both our understanding and management of rare diseases.
Considerations for Administering Hemoglobinopathy Gene Therapies From a Pharmacist’s Perspective
April 20th 2024Alexis Kuhn, PharmD, BCOP, a pediatric oncology pharmacist at Mayo Clinic, discussed the incorporation of the recently FDA-approved gene therapies for SCD and TDT into the work of pharmacists.
