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

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 […]