Scientists created a new cell model of AADC deficiency that has allowed them to understand exactly how two disease-causing mutations in the DDC gene affect the AADC enzyme. According to the team, the new model “is useful to study the molecular basis of the disease.” It “recapitulates some key…
Telerare Health is now offering virtual genomic consultations to people in Minnesota, with the aim of helping those with rare genetic disorders get accurate diagnoses and start treatment, according to a company press release. The genome is a person’s complete set of DNA. Genomics, therefore,…
A new documentary aims to raise rare disease awareness by focusing on the struggles faced by families of children with rare conditions. Rare: A Rare Disease Revolution is being submitted to film festivals worldwide, and was recently screened at a rare disease day event hosted by Illumina, a company…
Researchers at Oregon State University are developing an artificial intelligence (AI) chatbot to help doctors diagnose rare disorders like aromatic l-amino acid decarboxylase (AADC) deficiency. “In the long term, I’m convinced that AI will have a profound impact on health care,” Stephen Ramsey, PhD, associate professor of…
The National Organization for Rare Disorders (NORD) will host its first rare disease scientific symposium, in hopes of advancing rare disease research. The NORD Rare Disease Scientific Symposium will be held June 2-3 in Washington. Online registration is available. The symposium “offers a rare opportunity to bring together…
The National Organization for Rare Disorders (NORD) has launched NORD Claim Your Care, a digital tool meant to help people living with rare diseases, including aromatic l-amino acid decarboxylase (AADC) deficiency, navigate health insurance. NORD Claim Your Care is an online resource for people with rare diseases…
More than half of all therapies approved by the U.S. Food and Drug Administration (FDA) in 2024 were designed to treat rare diseases, according to an advisory firm that helps life sciences companies navigate the commercialization process. One such approval was for Kebilidi (eladocagene exuparvovec-tneq), a gene therapy developed…
Note: This story was updated March 21, 2025, to correct that Pamela Price was a competing athlete in “American Ninja Warrior.” More than 100 events across the U.S. marked Rare Disease Day, an annual initiative at the end of February to raise awareness for rare diseases like aromatic…
Parents of children living with rare diseases reported a range of unmet needs across multiple areas in a recent survey conducted in Ireland, though the degree of burden felt by families varied. Challenges included difficulties in understanding the disease and working with healthcare professionals, dealing with emotions like anger and…
A 14-year-old boy with aromatic l-amino acid decarboxylase (AADC) deficiency had successful extensive dental surgery under general anesthesia, a study reports. Precautions were taken throughout the procedure to avoid complications that occur with anesthesia in this patient population, including abnormal changes in blood pressure, body temperature, and blood…
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