Ambry Genetics‘ Patient for Life program — designed to systematically reanalyze genetic data as new information becomes available — can help in the diagnosis of rare genetic diseases, a new study by company researchers reports. Indeed, using the program led to a diagnosis in more than 450 samples,…
OneMedNet, a provider of real-world healthcare imaging data, will expand its capabilities to enable secure collaboration for researchers investigating rare diseases and other complex medical questions. By providing de-identified, curated datasets, OneMedNet hopes to fuel innovation around rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. The company’s…
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…
Scientists created a new cell model of AADC deficiency that has allowed them to understand exactly how two disease-causing mutations in the DDC gene affect the AADC enzyme. According to the team, the new model “is useful to study the molecular basis of the disease.” It “recapitulates some key…
Telerare Health is now offering virtual genomic consultations to people in Minnesota, with the aim of helping those with rare genetic disorders get accurate diagnoses and start treatment, according to a company press release. The genome is a person’s complete set of DNA. Genomics, therefore,…
A new documentary aims to raise rare disease awareness by focusing on the struggles faced by families of children with rare conditions. Rare: A Rare Disease Revolution is being submitted to film festivals worldwide, and was recently screened at a rare disease day event hosted by Illumina, a company…
Researchers at Oregon State University are developing an artificial intelligence (AI) chatbot to help doctors diagnose rare disorders like aromatic l-amino acid decarboxylase (AADC) deficiency. “In the long term, I’m convinced that AI will have a profound impact on health care,” Stephen Ramsey, PhD, associate professor of…
The National Organization for Rare Disorders (NORD) will host its first rare disease scientific symposium, in hopes of advancing rare disease research. The NORD Rare Disease Scientific Symposium will be held June 2-3 in Washington. Online registration is available. The symposium “offers a rare opportunity to bring together…
The National Organization for Rare Disorders (NORD) has launched NORD Claim Your Care, a digital tool meant to help people living with rare diseases, including aromatic l-amino acid decarboxylase (AADC) deficiency, navigate health insurance. NORD Claim Your Care is an online resource for people with rare diseases…
More than half of all therapies approved by the U.S. Food and Drug Administration (FDA) in 2024 were designed to treat rare diseases, according to an advisory firm that helps life sciences companies navigate the commercialization process. One such approval was for Kebilidi (eladocagene exuparvovec-tneq), a gene therapy developed…
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