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  • Genomic and Environmental Basis of Imperforate Anus (IA) Rochester, Minn.

    The study aims are to develop a consent-based IRB proposal that will enroll newborns who have imperforate anus.  The proposal will include permission for chart review and database information storage, to develop a database that will include MRN, imperforate anus phenotype, information on other congenital malformations, syndromic diagnosis if available, demographic information, and to develop a biobank of DNA and white blood cell samples from infants with imperforate anus. If patients are undergoing a skin biopsy for a medically indicated reason, cells will be requested.

    Imperforate Anus, also known as anal atresia, is a rare birth defect.  Unable to pass stool through the gastrointestinal tract, this condition can result in death of the newborn and emergency surgery is required once discovered.  More than two thirds of affected infants have other birth defects that include other parts of the gastrointestinal tract, airway, heart, skeleton, kidneys, eyes, or ears. The exact prevalence of imperforate anus in the newborn population is unknown. 
  • Hearing Genomics Rochester, Minn.

    Aims, purpose, or objectives:

    1) Develop hypotheses related to how the human genome and genetic variants affect hearing loss in children and adults.

    2) Understand phenotypes of hearing loss on a deeper level by combining and analyzing information from audiometric, genetic, and radiologic data.

    3) Explore genetic variants with an unknown significance to develop an understanding of their potential significance and explore other genes may influence an individual's hearing ability.

Closed for Enrollment

  • Natural History of Myhre Syndrome (MS) Rochester, Minn.

    Mayo Clinic will work with several other institutions to further classify Myhre disease. Retrospective clinical data will be obtained from the medical record and compiled to describe the disease and its characteristics. Data will be pulled from the medical record, including by not limited to, laboratory reports, growth charts, neuropsychiatric reports, clinical summaries, and demographics. Clinical photographs and other clinical imaging (such as vascular scans and radiographs) may be utilized in publications of the cases.
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