Partners updating AI platform for faster rare disease diagnosis

Laying the Next Stone: Research into a Rare Disease – Athens Science Observer

Imagine yourself in this scenario: in a village, each person is given a stone to build a pathway for their community. The first stone was set by your ancestors, and their only instructions are to place the next stone, including yours, adjacent to another stone. Each stone has its own shape and size. Some are […]

Partners updating AI platform for faster rare disease diagnosis

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, PhD, a professor at the university’s Frost Institute for Data Science and Computing (IDSC). The team aims to modernize the cu…