Genetic and Genomic Medicine

Geneticists in the Department of Pediatrics have wide-ranging collaborative work ongoing with investigators in a large number of divisions, departments, and institutes at Columbia University Irving Medical Center (CUIMC). Among their areas of research are:

  • undiagnosed and rare disorders
  • immunodeficiencies
  • genetic factors associated with congenital heart disease
  • clinical and molecular characterization of infants with spinal muscular atrophy
  • psychiatric, neurologic, and behavioral genetics
  • identifying novel genes for neurodevelopmental disabilities including autism
  • genetic basis of obesity and diabetes
  • metabolic and endocrine genetic disease
  • congenital heart disease, cardiomyopathies, and inherited arrhythmias
  • cancer syndromes
  • errors of embryonic development
  • vascular anomalies