Browse Studies — Arctuva

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

Estimated

~$10 – $6,250

Columbia UniversityNCT05990179

RNAseq for the Evaluation of Splicing and Cryptic or Unrecognized Effects

The goal of this observational study is to see if ribonucleic acid (RNA) sequencing can improve the diagnostic yield and accuracy of genetic testing compared t…

Genetic ConditionsGenetic Disorders

Estimated

~$10 – $675

University of California, San FranciscoNCT07787975

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

Estimated

~$10 – $675

National Human Genome Research Institute (NHGRI)NCT05657405

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

Estimated

~$10 – $750

University of Missouri-ColumbiaNCT07329257