Massachusetts is holding its first-ever AADC Deficiency Awareness Day on Oct. 23, according to a press release from PTC Therapeutics, developer of a gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency. The day, recently designated AADC Deficiency Awareness Day in a resolution  passed by Massachusetts…
Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…
PTC Therapeutics and Invitae have partnered to launch a free genetic testing program that helps diagnose neurotransmitter disorders, including aromatic l-amino acid decarboxylase (AADC) deficiency, in people who are suspected of having such conditions. Called PTC PINPOINT, the program is designed to ensure expedient…
Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…
Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…
The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…
When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…
A simple urine test using widely available methods may help diagnose people with aromatic L-amino acid decarboxylase (AADC) deficiency, a study reports. The study, “Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a…
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…
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