Dr. Pandya’s Laboratory
Dr Pandya has been involved with research on genetic hearing loss for more than two decades, and started her career working on genetic modifiers for hearing loss (HL) in individuals with Waardenburg syndrome. She has successfully established the largest national repository of DNA from deaf individuals in the USA. These samples have been screened to identify new recessive and dominant deafness genes, and to determine the molecular epidemiology of the commonest genetic form of hearing loss due to Gap Junction Protein -2 (GJB2) sequence variant as well as mitochondrial HL. She has an interest in the ethical impact of new discoveries in genetic hearing loss on deaf individuals and their families and assessed it through a national survey.
Her recent work is focused on studying individuals with Auditory Neuropathy Spectrum Disorders (ANSD), which result in hearing loss due to disruption of signals transmitted through the cochlear nerve. This work is in collaboration with the Department of Otolaryngology and Audiology at UNC. She is interested in understanding the clinical characteristics, natural history and risk factors in children with ANSD in a large cohort that is followed at UNC. Her team is actively recruiting individuals and families with ANSD for genetic evaluation to help understand the underlying genetic etiology, which is not very well elucidated.
Dr. Pandya served on the advisory committee for the Early Hearing Detection and Intervention services in VA. She was an invited member on an American College of Medical Genetic work group to develop the initial and revised national guidelines and recommendations for evaluation of individuals with hearing loss identified through NBS. She served as a member of the national newborn screening and translational workgroup assessing practice policies for long term follow up of infants diagnosed with a genetic disorder by newborn screening, including metabolic conditions and hearing loss. She is also a member of the ClinGen Hearing Loss Variant Curation Expert Panel that helps with cataloguing and interpretation of sequence variants in genes for hearing loss.