At its second annual event this fall, the N-Lorem Foundation detailed the latest developments related to antisense oligonucleotide (ASO) treatment for people with extremely rare diseases — those affecting just one to 30 people worldwide. Patients and families also shared experiences from their diagnosis and treatment journeys. The…
Florida State University (FSU) has received $5 million from the State of Florida to support its Institute for Pediatric Rare Diseases, which conducts research on rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, that affect children. The announcement was made by state representative Adam Anderson during…
Oct. 23 will mark the fifth annual AADC Deficiency Awareness Day: an event aimed at raising awareness and promoting education about aromatic L-amino acid decarboxylase (AADC) deficiency. The AADC Family Network will host this event, which includes a Facebook live presentation slated for 11 a.m. ET. The…
About one in 39 individuals with neurological deficits on the Italian island of Sicily are carriers of genetic mutations associated with aromatic l-amino acid decarboxylase (AADC) deficiency, a higher prevalence than previously estimated, according to a recent study. Carriers are individuals with one mutated copy of the gene and…
A free webinar on July 18 will offer insights into the patient journey in gene therapy trials, with a particular focus on rare diseases such as AADC deficiency. The webinar, “Rare Disease Trials and Gene Therapy: Understanding the Patient Journey,” will broadcast live beginning at 10 a.m. EDT, and…
Get regular updates to your inbox.