Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
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 […]
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 […]
Dr Giulia Pascolini, an esteemed Italian M.D. and Ph.D., is currently responsible for the Genetic Counselling Service of the Istituto Dermopatico dell’Immacolata (IDI-IRCCS) of Rome and is contributing her expertise to the Rare Skin Diseases Center of the same Institute. She is also a professor of Medical Genetics at the Medicine and Surgery Faculty of […]
Founded in 2017, the Spanish Coffin Siris Syndrome Association is an organization dedicated to supporting families affected by this rare genetic disorder. In an exclusive interview with Alejandra Paredes, president of the association and mother of a daughter with Coffin Siris Syndrome (CSS), we learned about the challenges faced by the families and about the […]
Dr. Karen Gripp, Erin Wadman & Carolina Alves talk about the delineation of a new syndrome associated with prenatal fentanyl exposure based on the study’s findings as recently published in Genetics in Medicine Online. This Webinar was conducted on Dec 4, 2023: