News

An upcoming U.S. survey, reported to be the first of its kind, aims for a better understanding of barriers to healthcare access and affordability among rare disease patients and caregivers in racial minority or other marginalized groups, and to help inform ways to remove them. The initiative is led by…

Global Genes and the Rare Disease Diversity Coalition (RDDC) have launched Know Your Family History, an initiative to raise awareness of the importance of learning about the health and medical histories of one’s relatives. The project’s aim is to create a path toward…

While the National Organization for Rare Disorders (NORD) is pleased Congress voted to reauthorize the Food and Drug Administration’s (FDA) user fee program — as part of a U.S. government short-term spending package (HR 6833) — it noted the legislation falls short in areas important to…

A new mutation in the DDC gene was identified as the cause of aromatic L-amino acid decarboxylase (AADC) deficiency in a baby boy in the United Arab Emirates (UAE), scientists report. This marks the first documented case of AADC deficiency in the UAE and one of the few reported in the…

Symptoms that mimicked epilepsy led to the misdiagnosis of a Chinese infant girl with aromatic l-amino acid decarboxylase (AADC) deficiency, a case study reported. The researchers noted the case emphasizes the difficulty distinguishing between epileptic episodes, or seizures, and oculogyric crisis — a common symptom of AADC…

People with AACD deficiency commonly experience emotional problems and intellectual disability, though the severity of cognitive impairment varies markedly among patients, a new study indicates. “Our study provides further evidence that AADCD requires specific neurological and neuropsychological assessments to monitor the disease,” the study’s researchers wrote. The study, “Long-term…

A free live webinar on Sept. 20 will explore various aspects of rare disease clinical trials — and offer insight into the challenges researchers face in finding and enrolling participants, particularly those of diverse backgrounds. Those interested in attending can register now for the hour-long webinar, titled “Rare Disease…

The first in-person workshop of the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) initiative — going on its fourth edition and set for Sept. 13-14 — will focus on developing a treatment for rare disorders, such as aromatic l-amino acid decarboxylase (AADC) deficiency, through data sharing and…

The NORD Rare Diseases & Orphan Products Breakthrough Summit, set for Oct. 17–18, will feature a range of speakers and discussions about issues affecting the more than 300 million people worldwide thought to have a rare disease — including those with aromatic l-amino acid decarboxylase (AADC) deficiency. The…

The Inflation Reduction Act of 2022 (HR 5376) will help individuals with rare diseases — such as aromatic l-amino acid decarboxylase (AADC) deficiency — to continue to receive safe and effective care, the National Organization for Rare Disorders (NORD) said in a statement lauding the new U.S. healthcare legislation.