Biographical sketch: Dr. Batista received her bachelor's of science from the University of Sao Paulo, Brazil and went on to obtain a master's of science and doctoral degree in human genetics at the same university. She is board-certified by the American Board of Medical Genetics in clinical cytogenetics. Research summary: Three to five percent of all newborn infants suffer some degree of intellectual disability and/or developmental disability. There are, moreover, data indicating that a significant number of these problems result from genetic defects (i.e., single gene defects, contiguous gene abnormalities and/or gross chromosomal alterations). Dr. Batista’s laboratory is interested in learning more about the role of such abnormalities in both normal and abnormal mental, behavioral, and physical development. Dr. Batista's main teaching, research and clinical interests are in the area of medical genetics with particular focus on cytogenetic abnormalities associated with developmental abnormalities and subnormal mental capacity disorders in humans. In addition to her own interests, her laboratory provides a variety of specialized techniques required for genetic studies for the clinical staff as well as other investigators of the Kennedy Krieger/Johns Hopkins community. Currently, her laboratory is utilizing cytogenetic and molecular cytogenetic techniques to identify small chromosomal abnormalities (microdeletions, translocations, duplications, etc.) that appear to be associated with specific types of physical and/or mental abnormalities. Characterization of such rearrangements leads to phenotype-genotype correlation and identification of causative genes.

Pathology