Linda Hasadsri, M.D., Ph.D.

The purposes of this study are to determine if patients treated with fluoroquinolone (FQ) antibiotics have depletion of mitochondrial DNA (mtDNA) in buccal swab samples, and whether the degree of depletion correlates with the likelihood of developing FQ-associated toxicity.

2nd arm - An additional group of patients will be enrolled if they previously received FQ antibiotics. appear to be symptomatic and have a previously collected muscle or nerve biopsy for clinical purposes available for this research study. 

The purpose of this study is to describe the hearing phenotype of individuals with mitochondrial disease and to determine if early investigation of hearing loss would result in earlier diagnosis of mitochondrial disease. 

The objectives of this study are to perform molecular and/or biochemical testing in individuals with suspected hereditary disorders, and/or their family members, to further elucidate possible mechanisms of disease and/or inheritance, and/or to help yield a final laboratory diagnosis at the judgement of the original ordering healthcare provider. 

The purpose of this study is to describe the prevalence of Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity (ear toxicity) in Cystic Fibrosis population.

The purpose of this study is to analyze genome-wide methylation patterns in DNA from patients with suspected hereditary disorders but for whom all previous genetic testing has been negative and/or equivocal.

The purpose of this study is to identify biomarkers of spinal muscular atrophy in Spinraza-treated patients.