As many as 30 million Americans live with a rare or undiagnosed disease. Many spend years seeing doctors, undergoing tests, and scouring the internet in a desperate search for answers. Vandana Shashi, MD, professor of pediatrics in the Division of Medical Genetics, and the Undiagnosed Diseases Network (UDN) clinical site at Duke give these patients a new avenue of hope.
Debbie Antonelli discusses how her son Frankie's experience at the Duke Down Syndrome Clinic prepared him for college success through the Clemson LIFE program.
The Undiagnosed Diseases Network, established by the NIH Common Fund in 2014, strives to find diagnoses for patients with undiagnosed rare/ultra-rare disorders.
The National Organization for Rare Disorders (NORD) has designated the Duke Health Rare Disease Center as a NORD Rare Disease Center of Excellence.
November 4, 2021 recognizes Genetic Counselor Awareness Day, sponsored by the National Society of Genetic Counselors (nsgc.org).
A new $8 million NIH grant seeks to uncover more clues into what genes increase the risk of developing schizophrenia. Greg Crawford, Charles Gersbach, Timothy Reddy, and Raluca Gordân at Duke have teamed up with researchers from UNC Chapel Hill and Yale University to narrow down areas of the genome previously marked relevant to schizophrenia risk.
With the benefit of pooled resources, the NIH-supported Undiagnosed Diseases Network has demonstrated a novel approach to identifying and diagnosing mystery diseases compared to singular institutions working alone, according to an analysis of key cases.
For the first time at Duke, the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, is awarding a Center of Excellence in Genome Science (CEGS) grant, to a group of Duke researchers, providing $14 million of research support over five years.