Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
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 […]
We asked Paula Gödke, vice president of the Brazilian Rett Syndrome Association – ABRE-TE, to tell us about the odyssey to arrive to her daughter’s diagnosis: Aline has Rett Syndrome. “I wish I had been listened to earlier, that my fears and suspicions had prompted professionals to take a second look at the case and […]
The Martin Family’s worries about their daughter Evie started early, but were dismissed by health professionals. It took years for these worries to be considered and to finally get to the diagnosis of Williams Syndrome. Evie’s mother tells that while microarray testing has made it easier for Williams Syndrome detection, it is dependent on a […]