Kristy L. Richie

NIST Building 227, Room B230
100 Bureau Drive
Gaithersburg, MD 20899-8312 USA
Phone: 301-975-3110
E-mail: kristy.richie@nist.gov

Kristy L. Richie

 

Education

  • B.S., Chemistry, University of the District of Columbia,  Washington, DC
  • M.A., Broadcast Journalism, The American University, Washington, DC
  • B.A., English/Psychology, North Carolina Central University, Durham, NC
  • Summer Fellowship, English Literature, Oxford University, England

Current Research

  • Applications of human mitochondrial DNA in forensic applications and disease diagnostics
  • Development of DNA diagnostic methods for clinical applications in triplet repeat diseases

Current research has focused primarily on the use of human mitochondrial DNA in forensic applications and disease diagnostics.  SRM 2392a –Mitochondrial DNA Sequencing Standard, was designed to provide quality control when amplifying and sequencing any region or the entire 16,569 base pairs which comprise human mtDNA.  Recently, the Federal Bureau of Investigation requested that NIST enhance SRM 2392 by including DNA from the human cell line HL-60.  This addition of HL-60 to the NIST human mtDNA sequencing standard is currently in progress and should provide additional quality control when amplifying and sequencing human mtDNA.   The primary customers of this SRM are the forensic laboratories throughout the U.S. and the clinical laboratories that screen the DNA of patients for mitochondrial diseases. 

We are also examining the low-frequency heteroplasmic single nucleotide polymorphisms (SNPs) and mutations found in mitochondrial DNA and the allele frequencies of SNPs in nucleic DNA of pooled samples from populations.  The aim of this project is to enable the screening of populations with and without specific diseases and to detect associated SNPs that may have a causal relationship with the disease.

Research is also underway in the area of clinical diagnostics with the establishment of a quantitative measurement program for trinucleotide repeats associated with human disease.  Our aim is to provide the clinical diagnostics community with accurate protocols and measurements of the detection of genetic disorders, specifically Fragile X Syndrome, which is the leading heritable cause of mental retardation.  A critical problem for clinical diagnostics of Fragile X syndrome is accurate CGG repeat size measurements in the FMR1 gene.  In general, the larger the number of CGG repeats, the greater the disease severity.  Unreliable size determinations create poor information for genetic counseling and pre-natal screening purposes.  Our work has focused on the standardization of PCR measurements and in obtaining accurate quantitation of the number of repeat sequences.  We are in the process of developing a standard reference material (SRM 2399) to address these needs.  This SRM would be primarily used by the clinical diagnostics community and genetic testing laboratories.


Representative Publications

“Comparison of the Complete mtDNA Genome Sequences of Human Cell Lines – HL-60 and GM10742A – From Individuals with Promyelocytic Leukemia and Leber Hereditary Optic Neuropathy, Respectively, and the Inclusion of HL-60 in the NIST Human Mitochondrial DNA Standard Reference Material – SRM 2392-I”, BC Levin, KA Holland, DK Hancock, M Coble, TJ Parsons, LJ Kienker, DW Williams, MP Jones, and KL Richie, Mitochondrion, 2:396-399 (2003)

“Standardization of PCR amplification for fragile X trinucleotide repeat measurements”, CD O”Connell, DH Atha, JP Jakupciak, JA Amos, and KL Richie, Clinical Genetics, 61:13-20. (2002)

“A Review of the DNA Standard Reference Materials Developed by the National Institute of Standards and Technology”, BC Levin, H Cheng, MC Kline, JW Redman, and KL Richie, Fresenius J. Anal Chem, 370, 213-219. (2001)

“RFLP band size standards:  NIST Standard Reference Material 2390”, DL Duewer, KL Richie, and DJ Reeder, J Forensic Sci 2000, 45(5):  1093-1105. (2000)

“Long PCR for VNTR Analysis”, KL Richie, MD Goldsborough, MM Darfler, EA Benzinger, ML Lovekamp, DJ Reeder, and CD O”Connell, J Forensic Sci, 44(6):  1176-1185. (1999)