PerkinElmer, FDNA Combine Genomic Service, Phenotyping Technology to Improve Rare Disease Diagnosis

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 […]

Dr. Aime Lumaka, a distinguished geneticist from the Democratic Republic of Congo, is at the forefront of advancing genetic research across Africa. As a pivotal figure in the Deciphering Developmental Disorders in Africa (DDD-Africa) initiative and the Principal Investigator of the African Rare Diseases Initiative (ARDI), Dr Lumaka is leading efforts to evaluate clinical exome sequencing in […]