El Dr. Himanshu Goel utilizó la inteligencia artificial de FDNA que instantáneamente compara las fotos de los pacientes con enfermedades raras con las fotos de otros pacientes en todo el mundo que permite identificar las enfermedades genéticas más inusuales.
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 […]
In a recent landmark scientific webinar trailblazing development in dermatological phenotyping, genetic disorders, and the transformative application of artificial intelligence (AI) in rare disease diagnostics in Italy were explored. The event convened leading experts, researchers, and clinicians, who unveiled their experience in the clinic, including the innovative use of an AI-powered called Face2Gene to significantly […]
Dr. Karen Gripp, MD, Chief of the Division of Medical Genetics at Nemours Children’s Health in Wilmington, has been at the forefront of groundbreaking research into what is now termed Fetal Fentanyl Syndrome—a novel condition observed in children exposed to fentanyl in utero in the context of a maternal opioid use disorder. This emerging syndrome […]