Researchers at the University of Miami are collaborating with artificial intelligence (AI) software company Sivotec Bioinformatics to enhance the GENA platform — a tool designed to accelerate the diagnosis of rare genetic diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. The project is led by Kaan Inal,…
More than 70 additional patient organizations have joined a joint statement from the European Organization for Rare Diseases (EURORDIS) and the European Patients’ Forum (EPF) urging European policymakers to safeguard patient representation in regulatory decisions affecting medicines. “Patient representatives are not passive participants, but expert, committed members of…
Illumina has launched PromoterAI, an artificial intelligence (AI) algorithm to identify genetic variants in noncoding regions of genes that may cause rare diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency. The technology is intended to help researchers diagnose more people with rare diseases caused by mutations in noncoding gene…
A podcast from the Pacific Northwest Research Institute (PNRI) called PNRI Science: Rare Disease, Real Progress returns for its second season with four episodes that explore how research into rare diseases like aromatic L-amino acid decarboxylase (AADC) deficiency is driving steps forward in healthcare. “Rare disease research is often…
Researchers in Germany are creating an artificial intelligence (AI) tool to help physicians diagnose rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, and connect their patients to specialists. “At the end of the project, physicians will be able to upload a patient’s symptoms and medical results onto…
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,…
Get regular updates to your inbox.