Lindsey Shapiro, PhD,  science writer—

The U.S. Food and Drug Administration (FDA) has introduced a process it says will ease and speed the regulatory approval of therapies for very rare diseases — such as aromatic l-amino acid decarboxylase (AADC) deficiency — that have a significant unmet medical need and a known genetic cause. This…

Members of the European Parliament (MEPs) spanning party lines have called for a coordinated effort focused on improving the lives of the estimated 30 million people living with a rare disease in the European Union, according to a press release from EURORDIS – Rare Diseases Europe. Such an initiative…

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…

Half of aromatic l-amino acid decarboxylase (AADC) deficiency patients given the one-time gene therapy Kebilidi (eladocagene exuparvovec) exhibited clinically meaningful improvements in motor function after six months, and 86% had achieved such gains after 1.5 years, according to analyses of clinical trial data. Scientists identified a threshold at…

A team of U.S. researchers developed an artificial intelligence or AI-based algorithm to help doctors decide which type of genetic testing is most appropriate for children suspected of having a rare pediatric disease. The scientists believe their algorithm, dubbed the Phen2Test, will help accelerate the diagnostic odyssey for children living…

Direct delivery of gene therapies into the central nervous system (CNS) — an approach used by Upstaza (eladocagene exuparvovec), a gene therapy now under review in the U.S. as a treatment for aromatic l-amino acid decarboxylase (AADC) deficiency — may have advantages over gene therapies given into the…

Researchers have uncovered the effects of gene mutations that are associated with mild or moderate forms of aromatic L-amino acid decarboxylase (AADC) deficiency. In general, DDC gene mutations linked to milder cases were associated with greater residual activity of the AADC enzyme than in severe cases. Because most known…

A national research network in Canada is working to accelerate research and treatment advances for rare diseases that affect children, such as aromatic l-amino acid decarboxylase (AADC) deficiency. RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network aims to help streamline and support rare disease clinical research in order…

Genomics companies Ambry Genetics and PacBio are coming on board to help the GREGoR Consortium achieve its goal of identifying the specific genetic underpinnings of rare diseases. The aim of the collaboration is to use advanced genetic sequencing techniques to screen the entire genome, the complete set…