How Machine Learning Is Revolutionizing the Diagnosis of Rare Diseases

In the world of rare genetic diseases, early diagnosis is often the key to better patient outcomes. However, the diagnostic journey can be long and complex, sometimes taking years before a definitive answer is found. Dr. Bruno Bordest, a Brazilian geneticist who teaches at the Universidade Federal de Mato Grosso, has been working to bridge […]

Analyzing facial features has long been a vital step in diagnosing genetic syndromes. In recent years, AI-driven technologies have transformed this process, making it more efficient and accurate. Leading this innovation is Face2Gene, an advanced AI platform that leverages machine learning to assist clinicians in identifying genetic disorders. To explore the development of this groundbreaking […]

After years of searching for answers, Miguel finally had his Pitt-Hopkins Syndrome diagnosis confirmed – and FDNA’s AI technology was the key to this discovery. When Evelyn discovered she was pregnant with Miguel in 2016, it felt like the beginning of a beautiful chapter. As a dedicated biologist and Ph.D. candidate, her life revolved around […]