My research has primarily been in the genetics of hearing and deafness, particularly related to enlarged vestibular aqueducts, a malformation of the inner ear visible on CT or MR imaging.

Recently, I have become interested in the effects of long term uncertainty, specifically diagnostic uncertainty, on adaptation to illness among parents and families. Additionally, I am interested in better understanding the role of provider/patient communication, and provider tolerance for uncertainty, in helping or hindering patient or parent adaptation to chronic uncertainty.

genetic counseling

Madeo AC, Manichaikul A, Reynolds J, Sarlis NJ, Pryor SP, Shawker T, Griffith AJ. Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. Arch Otolaryngol Head Neck Surg in press

Madeo AC, Manichaikul A, Pryor S, Griffith AJ. Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension? J Med Genet in press

Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King K, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ (2008) Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphism? Hum Mutat in press

Peters LM, Fridell RA, Boger ET, San Agustin TB, Madeo AC, Griffith AJ, Friedman TB, Morell RJ. A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1. Clin Genet. 2008:73:367-72.

Labay V, Garrido G, Madeo AC, Nance WE, Friedman TB, Friedman PL, Del Castillo I, Griffith AJ. Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss. Clin Genet. 2008:73(1):50-4.

Makishima T, Madeo AC, Brewer CC, Zalewski CK, Butman JA, Sachdev V, Arai AE, Holbrook BM, Rosing DR, Griffith AJ. 2007. Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: Evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain. Am J Med Genet Part A 143A:1592-1598.