Access to care for people with rare diseases in the U.S. still varies significantly by state, with ongoing gaps in medical nutrition and insurance coverage that can directly affect whether patients receive timely and affordable treatment, according to the latest State Report Card from the National Organization for…
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The Digital Health Measurement Collaborative Community (DATAcc) has launched a core set of digital clinical measures designed to help support the development of new therapies for pediatric rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency. DATAcc is part of the Digital Medicine Society (DiMe), a collaborative group…
The California Institute for Regenerative Medicine (CIRM) approved a $100 million funding program designed to speed the development of gene therapies for rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency. The Rare Disease Acceleration Platform and Innovation and Delivery (RAPID) program will invest the funds over two years…
Two U.S.-based companies are teaming up to advance personalized human-based disease models that could help speed the discovery of novel therapies for rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency. Ixcells Biotechnologies and Rosebud Biosciences, both headquartered in California, have entered into a partnership to develop…
Researchers have developed a real-time, MRI-guided method to deliver Kebilidi (eladocagene exuparvovec-tneq), an approved gene therapy for people with AADC deficiency, to multiple brain regions, according to a study in nonhuman primates (NHPs). AADC deficiency is characterized by low levels of dopamine and serotonin, two neurotransmitters. While current…
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,…
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