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Observational Study of Advanced Data Analytics in Genetic Conditions
Background: The genes a person is born with can sometimes cause serious diseases. Genetic diseases are rare, but they can have a big impact on the people they…
Genetic Conditions
National Human Genome Research Institute (NHGRI)NCT05657405
Observational
Genomic Uniformed-Screening Against Rare Disease In All Newborns
The goal of this study is to learn how genomic sequencing technology can be used to effectively expand the conditions screened on newborn screening. Newborn sc…
Early Onset Genetic Conditions With Near Complete Penetrance
Columbia UniversityNCT05990179
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and fun…
Baker Gordon SyndromeRare Neurodevelopmental ConditionsRare Neurogenetic Conditions+6 more
University of Missouri-ColumbiaNCT07329257