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Inborn Genetic Disease

Showing 1 - 25 of >10,000
STUDY
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Pre-implantation Genetic Testing for Monogenic Disease: Single

Completed
  • Genetic Disease
  • Aneuploidy
  • Pre-implantation genetic testing
  • (no location specified)
Jun 29, 2023

Newborn Genomics Programme

Not yet recruiting
  • Genetic Disease
  • Newborn Morbidity
  • Genetic testing
  • Auckland, New Zealand
    Auckland City Hospital
Oct 10, 2023

Cerebral Palsy, Genetic Disease, Developmental Delay Trial in Ljubljana (NGS)

Completed
  • Cerebral Palsy
  • +3 more
  • NGS
  • Ljubljana, Slovenia
    University Children's Hospital, University Medical Centre Ljublj
Nov 1, 2022

Clinical Presentation of Genetic Disorders in Patients Attending

Not yet recruiting
  • Genetic Disease Clinical Presentation in Patients Attending Genetics Outpatient Clinic of Assiut University Children Hospital
    • (no location specified)
    Jun 2, 2023

    Genetic Disease, Genetic Predisposition Trial (Access to Genetic Counselor for answering questions)

    Not yet recruiting
    • Genetic Disease
    • Genetic Predisposition
    • Access to Genetic Counselor for answering questions
    • (no location specified)
    Jan 10, 2023

    Structural Chromosome Rearrangements and Brain Disorders

    Enrolling by invitation
    • Rare Diseases
    • +2 more
      • Stockholm, Sweden
        Anna Lindstrand
      Oct 2, 2023

      Genetic Study of Obstructive Azoospermia

      Recruiting
      • Genetic Disease
        • Guangzhou, Guangdong, China
          107 Yan Jiang Xi Road
        Nov 20, 2022

        Obesity, Childhood, Genetic Disease Trial in Houston

        Recruiting
        • Obesity, Childhood
        • Genetic Disease
          • Houston, Texas
            Baylor College of Medicine
          Feb 27, 2023

          Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and

          Recruiting
          • Granuloma
          • +4 more
            • Bethesda, Maryland
              National Institutes of Health Clinical Center
            Jan 25, 2023

            Genetic Disease, Cancer, Cardiovascular Diseases Trial in Philadelphia (private web-portal eHealth disclosure of genetic

            Enrolling by invitation
            • Genetic Disease
            • +2 more
            • private web-portal eHealth disclosure of genetic results
            • eHealth education intervention (web or chatbot)
            • Philadelphia, Pennsylvania
              University of Pennsylvania
            Oct 18, 2023

            Technological Development and Clinical Parallel Testing of PGT-G

            Not yet recruiting
            • Genetic Disease
              • (no location specified)
              Nov 7, 2022

              Infertility, Genetic Disease, Chromosomal Rearrangement Trial in Hong Kong (microfluidic chip, density gradient centrifugation)

              Not yet recruiting
              • Infertility
              • +3 more
              • microfluidic chip
              • density gradient centrifugation
              • Hong Kong, Hong Kong, China
                Department of Obstetrics and Gynaecology
              Aug 28, 2023

              Diagnostic Odyssey: Whole Genome Sequencing (WGS)

              Recruiting
              • Genetic Disease
              • Genetic Syndrome
              • Genetic Enrollees
              • Miami, Florida
                Nickalus Children's Hospital f/k/a Miami Children's Hospital
              Nov 11, 2022

              Genetic Disease, Genetic Syndrome, Genetic Predisposition to Disease Trial in Boston

              Recruiting
              • Genetic Disease
              • +4 more
                • Boston, Massachusetts
                  Boston Children's Hospital
                Oct 17, 2022

                Pediatric Patients With Metabolic or Other Genetic Disorders

                Recruiting
                • Genetic Disorder
                • +4 more
                  • Bethesda, Maryland
                    National Institutes of Health Clinical Center
                  Jan 28, 2023

                  Genetic Disease, Nervous System Diseases Trial (Patient cohort, Control cohort)

                  Not yet recruiting
                  • Genetic Disease
                  • Nervous System Diseases
                  • Patient cohort
                  • Control cohort
                  • (no location specified)
                  Sep 15, 2023

                  UW Undiagnosed Genetic Diseases Program

                  Recruiting
                  • Rare Diseases
                  • +2 more
                  • Trio Whole Genome Sequencing and Participant-Specific Research
                  • Madison, Wisconsin
                    University of Wisconsin School of Medicine and Public Health
                  Nov 4, 2022

                  Ataxia, Degenerative Disease, Genetic Disease Trial in Saint-Didier-au-Mont-d'Or, Saint-Genis-Laval, Saint-Étienne (PAMPERO

                  Not yet recruiting
                  • Ataxia
                  • +2 more
                  • PAMPERO program
                  • Saint-Didier-au-Mont-d'Or, France
                  • +2 more
                  Oct 17, 2023

                  Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

                  Active, not recruiting
                  • Lung Cancer
                  • +3 more
                  • Data and Specimen Collection
                  • Boston, Massachusetts
                  • +1 more
                  Jan 20, 2023

                  Breast Cancer, Genetic Disease, BRCA2 Mutation Trial (blood sample for BRCA2 mutation detection)

                  Not yet recruiting
                  • Breast Cancer
                  • +2 more
                  • blood sample for BRCA2 mutation detection
                  • (no location specified)
                  Jun 1, 2023

                  Long Read Genome Sequencing in Patients Suffering From

                  Recruiting
                  • Genetic Disease
                  • +3 more
                    • Nantes, Loire-Atlantique, France
                      Nantes University Hospital
                    Jan 25, 2023

                    Infant, Newborn, Disease, Genetic Disease Trial in Pittsburgh (Neonate WGS Testing)

                    Enrolling by invitation
                    • Infant, Newborn, Disease
                    • Genetic Disease
                    • Neonate WGS Testing
                    • Pittsburgh, Pennsylvania
                      UPMC Children's Hospital of Pittsburgh
                    Dec 9, 2022

                    Von Hippel-Lindau Disease, Genetic Disorder Trial in Boston (3RP-VHL)

                    Not yet recruiting
                    • Von Hippel-Lindau Disease
                    • Genetic Disorder
                    • 3RP-VHL
                    • Boston, Massachusetts
                      Massachusetts General Hospital Cancer Center
                    Feb 10, 2023

                    Genetic Predisposition to Disease, Breast Cancer Female, Ovarian Cancer Trial in Philadelphia (Sequential EHR Communications)

                    Not yet recruiting
                    • Genetic Predisposition to Disease
                    • +6 more
                    • Sequential EHR Communications
                    • Philadelphia, Pennsylvania
                      Abramson Cancer Center of the University of Pennsylvania
                    Feb 8, 2023

                    Young Pectus Excavatum Patients and Genetic Defects

                    Completed
                    • Genetic Disease
                    • +2 more
                    • Genetic analysis
                    • Rotterdam, Zuid-Holland, Netherlands
                      Erasmus Medical Center
                    Jul 1, 2022