News

As U.S. lawmakers prepare to head home for the holidays, the National Organization for Rare Disorders (NORD) held out hope they would still act to ensure that people with rare diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency get timely access to treatments and diagnostic tools. On…

IndoUSrare, a U.S.-based humanitarian organization, is working to build international connections between scientists to accelerate research that aims to improve care for people affected by rare diseases, such as AADC deficiency. “The solution to the considerable economic and social challenges presented by rare diseases is global collaboration. The…

PacBio‘s HiFi DNA sequencing technology will be used in a pilot project to detect new genetic variants associated with rare childhood diseases, such as AADC deficiency. Run by the Children’s Rare Disease Cohorts Initiative (CRDC) at Boston Children’s Hospital, in Massachusetts, the project involves a detailed analysis…

Genomenon, an artificial intelligence (AI)-driven genomics company, is teaming up with three disease research foundations to develop comprehensive genomic data on rare genetic neurodevelopmental disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency. The goal is to advance precision medicine — a form of medicine that uses information…

The gene therapy Upstaza (eladocagene exuparvovec) has been approved in the U.K. to treat adults and children, 18 months and older, with aromatic l-amino acid decarboxylase (AADC) deficiency. This decision by the country’s Medicines and Healthcare Products Regulatory Agency (MHRA) comes about four months after a similar approval by…

Researchers classified variants of the DDC gene that causes AADC deficiency according to their disease-causing potential, a study reported, the first study to identify and characterize previously unknown DDC variants. “Given that genetic testing is a core diagnostic test for AADC deficiency, a comprehensive catalogue of the genetic variants…

A review of recent medical literature confirmed low muscle tone, developmental delays, and oculogyric crises — when the gaze becomes fixed upward due to spasms in the eye muscles — are all hallmark signs of aromatic l-amino acid decarboxylase (AADC) deficiency, with symptom onset occurring within 6 months of…

Since its founding more than 25 years ago, Eurordis has presented and promoted initiatives to ensure that people with rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, are at the heart of treatment development. That work continues — and indeed, Eurordis is stepping up its…

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…