Cynthia Powell, MD

Professor, Pediatric Genetics and Metabolism; Genetics

Research Interests

Keywords: Cytogenetics; dysmorphology; and hearing loss.

Genetics of hearing loss; genetic and chromosomal syndromes; ethical issues in genetics; and newborn screening.

Dr. Powell is a pediatric geneticist with expertise in hearing loss, newborn genetic screenings and rare diseases. Her research interests include:

  • The ethical, legal and social implications (ELSI) of genomics research as new technologies emerge and the field expands.
  • Improvement and implementation of advanced newborn screenings to identify rare diseases.
  • Easing disease burden for patients and families with rare disease, including hearing loss, Angelman syndrome and Prader-Willi syndrome.

Links to more information:

  • Pediatric Genetics and Metabolism; Genetics