Undiagnosed and ultra-rare disease patients and their family members have joined efforts with clinicians and advocacy partners to create the…
Articles by Patricia Inácio, PhD
The first in-person workshop of the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) initiative — going on its…
The goal of this year’s Global Genes RARE Patient Advocacy Summit, slated for Sept. 12–14, is to connect rare disease…
A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases…
More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less…
The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a…
Measuring 3-O-methyldopa (3-OMD) levels in dried blood spots could help in diagnosing aromatic L-amino-acid decarboxylase (AADC) deficiency, a recent study…
PTC Therapeutics is planning to request U.S. Food and Drug Administration (FDA) approval of PTC-AADC, its investigational gene therapy to…
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However,…
A new mutation in the DDC gene, the underlying cause of aromatic L-amino acid decarboxylase (AADC) deficiency, has been identified…