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.
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