Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.

Molecular Genetics


Published on

Published in: Technology, Education
  • Be the first to comment

  • Be the first to like this

Molecular Genetics

  1. 1. National Human Genome Center Molecular Genetics Georgia M. Dunston, PhD Mezbah U. Faruque, MD, PhD Director Associate Director Yuanxiu Chen, MD, PhD Paulette Furbert-Harris, PhD CTSA Laboratory Director Core Laboratory Director Muneer Abbas, PhD Tshela Mason, MS Laboratory Manager Operations Supervisor Luisel Ricks-Santi, PhD Biorepository Coordinator Contact Mezbah Faruque at 202-806-4780 or e-mail at
  2. 2. <ul><li>Developing research designs and protocols for </li></ul><ul><li>genotype-phenotype/biomarker studies. </li></ul><ul><li>Processing biological samples for DNA and RNA </li></ul><ul><li>extraction and their quality control. </li></ul><ul><li>Genotyping by pyrosequencing, restriction fragment </li></ul><ul><li>length polymorphism, and direct sequencing. </li></ul><ul><li>HLA genotyping. </li></ul><ul><li>Develop and maintain biorepository for genome </li></ul><ul><li>studies in clinical translational research. </li></ul>The core services include:
  3. 3. <ul><li>Developing research designs and protocols </li></ul><ul><li>Utilization of bioinformatics tools and resources for </li></ul><ul><li>allele and haplotype selection. </li></ul><ul><li>Determination of primer design and quality control. </li></ul><ul><li>Genetic model testing. </li></ul><ul><li>Assessing applicability of population-based variables </li></ul><ul><li>in personalized medicine. </li></ul>
  4. 4. <ul><li>Processing biological samples </li></ul><ul><li>DNA and RNA extraction from blood and saliva as </li></ul><ul><li>well as from formalin fixed paraffin embedded tissue. </li></ul><ul><li>Quantification of the DNA and RNA using </li></ul><ul><li>spectrophotometry and NanoDrop® . </li></ul><ul><li>Further quality control of DNA by restriction digestion </li></ul><ul><li>or PCR. </li></ul>
  5. 5. Three PSQ™HS 96 sequencers with built-in robotic mechanism for transfer of ten 96-well plates for high throughput SNP genotyping. Platform compatible primers are designed using PSQ assay design software. Current throughput for the pyrosequencers in our labs exceeds 12,000 genotypes per day. High-throughput pyrosequencing for SNP genotyping
  6. 6. Performed on ABI 3100 automated DNA sequencers using big dye terminator chemistry . Custom primer designing for amplification and sequencing of up to 500 bp of bi-directional reads. Direct DNA Sequencing
  7. 7. HLA genotyping HLA genotyping after reverse PCR-SSO using Luminex Technology that offers a microspehere based assay with multiplexed data acquisition and analyses. High resolution sequence based typing of HLA-B, HLA-DRB1 and HLA-DQB1 to identify new HLA alleles as well as to assign allele calls by comparing sequences with reference databases.
  8. 8. <ul><li>Develop and maintain biorepository </li></ul><ul><li>Standardization of study management software. </li></ul><ul><li>Centralization of sample inventory, data collection, </li></ul><ul><li>and quality assurance and control. </li></ul><ul><li>Automated sample tracking and generation of study </li></ul><ul><li>reports. </li></ul><ul><li>Controlled access to research resources and </li></ul><ul><li>information for communication and education. </li></ul>
  9. 9. Contact Information: <ul><li>Mezbah Faruque, MD, PhD </li></ul><ul><li> </li></ul><ul><li>(202) 806-9437 </li></ul><ul><li>Yuanxu Chen, MD, PhD </li></ul><ul><li>[email_address] </li></ul><ul><li>(202) 806-9437 </li></ul>
  10. 10. Support Provided by: <ul><li>Shared Resources are partially supported by the Georgetown Howard University Center for Clinical and Translational Studies (GHUCCTS) 1UL1RR031975-01    In your publications, remember to mention support provided from the GHUCCTS. </li></ul>