News

To raise awareness of the rare disease community and celebrate the creativity of its members, the EveryLife Foundation for Rare Diseases is seeking submissions to the 2020 Rare Artist contest. Established in 2010, the contest is open internationally to patients, caregivers, physicians, friends, or anyone else who…

A case study of a 3-month-old patient provided evidence to support the use of a urine organic acid analysis in the diagnosis of aromatic l-amino acid decarboxylase (AADC) deficiency, offering a non-invasive approach for identifying the disease. The report, “Urine Organic Acid (UOA) Analysis for…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

Four biomarkers of aromatic l-amino acid decarboxylase (AADC) deficiency have been identified in the cerebrospinal fluid of children with the condition, a new study reports. These disease markers may aid in diagnosis when adjusted for a patient’s age, the researchers said.

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

The genetic variant that most commonly causes aromatic l-amino acid decarboxylase (AADC) deficiency seems to result in severe clinical manifestations, according to findings from the largest patient group from mainland China. According to the study, this variant — c.714+4A>T — led to significant delays in developmental milestones and total inability…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Most patients with aromatic l-amino acid decarboxylase (AADC) deficiency experience a combination of severe motor symptoms and prominent non-motor symptoms that persist from childhood to adulthood, according to findings from a recent study. Some older patients, however, have milder forms of the disease and are able to walk and sit independently, attend…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…