News

Through a series of long-term experiments using rats, a team of U.S. scientists has tracked how an AAV2-based gene therapy vector similar to the one used in Kebilidi (eladocagene exuparvovec-tneq), an approved gene therapy for AADC deficiency, travels through the brain. Results showed that capsid signals from the…

The National Organization for Rare Disorders (NORD) is teaming up with artificial intelligence (AI) company Openevidence to combine  artificial intelligence (AI) with expert review to create new educational resources on thousands of rare diseases. “People living with rare diseases and the families who support them deserve access to…

Natera has launched Zenith genomics, its next-generation genetic testing platform designed to improve the detection of rare diseases, such as aromatic l-amino acid decarboxylase deficiency. The platform uses whole-genome sequencing — a laboratory process that reads a person’s entire genome, or complete DNA sequence — and interpretation technology…

Genetics sequencing company Illumina is teaming up with the Center for Data-Driven Discovery in Biomedicine (D3b) on a new project that aims to leverage genomic data from thousands of children to better understand the biological underpinnings of childhood rare diseases and cancers. With this initiative, D3b — a…

First Atom Therapeutics — newly rebranded from Asha Therapeutics — will use a drug design approach powered by artificial intelligence (AI) to develop entirely new therapeutic candidates for rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency. The platform will also be used to create novel drugs…

Researchers at the Keck School of Medicine, University of Southern California, are receiving up to $6.8 million in funding to develop an artificial intelligence (AI)-based computational model to help advance gene and cell therapies for children with rare diseases, including conditions such as aromatic L-amino acid decarboxylase (AADC) deficiency. Funded…

One-time treatment with Kebilidi (eladocagene exuparvovec-tneq) helped children with aromatic L-amino acid decarboxylase (AADC) deficiency gain new motor abilities within about a year, according to data from an ongoing clinical trial. The findings come from a Phase 2 clinical trial (NCT04903288) testing Kebilidi in 13 children with…

A boy with a severe form of aromatic L-amino acid decarboxylase (AADC) deficiency was able to walk independently — and later run — after receiving the gene therapy Kebilidi (eladocagene exuparvovec), according to a new case report. The child, now 5, showed rapid and sustained improvements in movement…

Genetic testing data collected at diagnosis may help guide medication use in people with rare diseases such as AADC deficiency, a new study shows. Researchers found that nearly a third of rare disease patients have at least one genetic variation that could influence how their bodies respond to medications…

Illumina has announced that its Laboratory Services unit is providing clinical genome sequencing and interpretation services to the diagnostic lab at the Florida Institute for Pediatric Rare Diseases (IPRD) at Florida State University to help diagnose rare diseases. This collaboration aims to expand the use of whole-genome sequencing —…