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Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders
The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low bir…
A Prospective, Randomized Trial to Compare Telegenetics to Counseling Via a Novel Genetic Information Assistant in High-risk Cancer Patients.
The goal of this clinical trial is to learn about different ways cancer genetic screening can be provided to rural communities in participants at high risk for…
Addressing Genomic Disparities in Cancer Survivors
The goal of this observational study is to increase genetic education and genetic testing for hereditary cancer risk among Black cancer survivors. The study wi…
The Genetics of Inherited Eye Disease
Background: Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researc…
The Molecular Basis of Inherited Reproductive Disorders
Background: \- During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. S…
Helix Research Network
The Helix Research Network ("HRN") is a network of academic, public, and/or private healthcare organizations that are committed to advancing medical research a…
Rare Tumors and Cancer Predisposition in Individuals and Families
Background: Some people may be prone to develop cancer for many reasons. Factors that affect their risk include the genes they inherit and the environment the…
Phase 1 Study of Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
Epileptic spasms (ES) are a predominantly infantile seizure type observed frequently in certain genetic disorders. Ketogenic diet (high ratio of fat to carbohy…
Genetic Regulators of Metabolism and Development in Children
This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while est…
Pancreas Disease and High Risk Registry
The purpose of this study is to establish a registry of patients with pancreatic diseases. Patients included in the registry may include those with: pancreatic…
Enhancing Information Management for Young Adults After Genetic Cancer Risk Testing
This research is being done to develop the electronic platform Nest for young adults (ages 18-39) who have had prior cancer genetic testing. The platform will …
Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, …