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Dr. Mefford is interested in the chromosomal basis of pediatric disease. She uses genomic techniques, including array comparative genomic hybridization and exome sequencing, to identify causative copy number and sequence variants in affected individuals. Mefford’s primary project is focused on the identification of causal copy number variants in patients with epilepsy. Although it has long been known that epilepsy has a strong genetic component, the epilepsy genes discovered to date explain only a small fraction of disease. Mefford and her group are using array comparative genomic hybridization (CGH) to identify novel deletions and duplications in patients with various types of epilepsy. In addition, they will carry out whole exome sequencing in a subset of severely affected patients to identify novel point mutations causing disease. Using a combination of genomic approaches, Mefford hopes to identify new genes and pathways important in brain development and epileptogenesis.
A second research area involves genotype-phenotype studies of novel genomic disorders. Mefford is interested in understanding the range of phenotypes associated with novel genomic disorders and studying the genetic and epigenetic modifiers that influence clinical outcome. Since the introduction of array CGH and SNP microarrays - technologies that allow genome-wide detection of copy number variants (CNVs) - the discovery of novel genomic disorders has increased rapidly. These include rearrangements of 1q21, 15q13, 15q24, 16p13, 17q12 and 17q21. Of importance, some genomic rearrangements are associated with a wide range of neurocognitive and neuropsychiatric conditions, ranging from mild learning disabilities to epilepsy to schizophrenia.
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