News

Aurora Therapeutics has launched a personalized gene-editing platform to develop CRISPR-based therapies — ones that precisely correct disease-causing genetic mutations — for rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency. The launch was supported by $16 million in seed funding from Menlo Ventures, a California-based company…

Over the course of 2025, U.S.-based Genedx published dozens of studies powered by its rare disease genomics dataset — which, by the numbers, the testing company claims, shows the effectiveness of a genome-first approach. Genomics is the study of an organism’s entire genome, essentially all of its DNA. This…

Fondazione Telethon and Orphan Therapeutics Accelerator, both nonprofit biotech organizations, have signed a Memorandum of Understanding (MoU) to facilitate commercial access in the U.S. to the first gene therapy approved in the nation for the treatment of Wiskott-Aldrich syndrome. The gene therapy, Waskyra (etuvetidigene autotemcel), was recently…

A new computational model, called popEVE, can predict the likelihood of harm from a DNA mutation, even when the variant is extremely rare or has never been observed before, according to a new study. The tool was able to pinpoint potentially damaging mutations in children with developmental disorders — including…

In a major effort to strengthen rare disease care and research collaboration across the U.S., the National Organization for Rare Disorders (NORD) announced it is expanding its Rare Disease Centers of Excellence Network by welcoming seven additional academic medical and research centers in five states. With these new sites,…

Computer-based analysis of doctors’ notes within healthcare records could dramatically speed up the diagnosis of rare diseases, such as AADC deficiency, a new study shows. By analyzing descriptions of a patient’s symptoms and history, this method could help flag those who face the long and often difficult journey to…

Surgery guided by MRI and computer navigation safely and accurately delivered Upstaza (eladocagene exuparvovec, marketed as Kebilidi in the U.S.) in two children with AADC deficiency, a study reported. “Gene therapy for AADC deficiency proved both feasible and safe, with early clinical improvements observed in motor function and…

A patient passport designed for people with rare diseases such as aromatic L-amino acid decarboxylase (AADC) deficiency can ease communication and care coordination challenges faced by patients and their caregivers, a pilot study showed. Participants reported that the passports — concise documents that summarize a person’s condition, care needs,…

Analysis of certain chemicals, known as neurotransmitters, in the cerebrospinal fluid (CSF) that bathes the brain and spinal cord does not predict clinical outcomes following gene therapy in children and adolescents with aromatic L-amino acid decarboxylase (AADC) deficiency. That’s according to a recent study that analyzed CSF and clinical…

A new mobile app aims to make it easier for people with rare diseases — including aromatic l-amino acid decarboxylase (AADC) deficiency — and their caregivers to take part in research and long-term studies. The National Organization for Rare Disorders (NORD) designed the IAMRARE mobile app to connect directly with…