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Genetic Medicine Labs

  • Alan Scott Lab

    Research in the Alan Scott Lab involves several important areas of genomics. Our team collaborates on a study to investigate the exon and genome sequence variants that determine phenotype, with a specific focus on the genetic bases of cleft lip and palate. We are also involved in assessing and improving genomic technologies to provide next-generation sequencing and analysis of sequence data to the clinical environment. In addition, we have a longstanding interest in the problem of gene annotation and the evolutionary genomics of vertebrates, especially endangered species.

    Research Areas: evolutionary genomics, sequence analysis, genomics, genome annotation, genomic technologies, cleft lip and palate

    Principal Investigator

    Alan Scott, Ph.D.

    Department

    Medicine

  • Margaret Penno Lab

    Research in the Margaret Penno Lab is focused on designing and managing biorepositories for both clinical and basic research. Our work includes the development of a pediatric cancer saliva biorepository, which involves research to optimize saliva collection, stabilization, processing, storage and drug assay protocols. The resulting biorepository will allow unprecedented opportunity to study chemotherapy in children. Our lab has also researched key topics that include training of a bioscience workforce, cryopreservation of human blood, and diagnosis and treatment methods of tuberculosis (TB).

    Research Areas: pediatric cancer, biorepositories, tuberculosis, tumor cell metastasis

    Principal Investigator

    Margaret Penno

    Department

    Medicine

  • Mihaela Pertea Lab

    The Mihaela Pertea Lab develops computational tools for RNA sequence analysis, gene finding, splice-site prediction and sequence-motif finding. Previous research projects led to the development of open-source software systems related to finding genes.

    Research Areas: computational biology, DNA, genomics, RNA

    Lab Website

    Principal Investigator

    Mihaela Pertea, M.S., M.S.E., Ph.D.

    Department

    Medicine