Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
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:
Face2Gene is an AI-driven tool that uses a set of proprietary algorithms engineered to learn from diagnosed patient photos to suggest likely phenotypic traits and genes to assist in feature annotation and syndrome prioritization. Every time a clinician or health professional inputs a patient photo, our technology converts it into de-identified mathematical facial descriptors (facial […]
En conmemoración del Día Mundial de las Personas sin Diagnóstico, el 29 de abril, la RELAGH y el FDNA hicieron un seminario web sobre la aplicación de la inteligencia artificial en enfermedades no diagnosticadas. En el evento participaron: José Elias García Ortiz, doctor en genética humana de México, quien habló sobre las enfermedades no diagnosticadas […]
In 2019, Argentina witnessed the emergence of a beacon of hope for individuals grappling with complex health challenges. The Argentine Alliance of Patients (ALAPA), a non-profit organization, came into being through the vision and determination of two remarkable women: Florencia Braga and Carolina Oliveto. Their direct connection to Stargardt disease, with Carolina as a patient […]