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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Suzanne M. Leal, Ph.D.

Suzanne M. Leal, Ph.D.

Professor of Molecular and Human Genetics


B.S., Fordham University, 1981
M.S., Columbia University, 1989
Ph.D., Columbia University, 1994
Postdoc, University of Tübingen, 1996

Research Interests

My interest in statistical genetics/genetic epidemiology lies in the mapping of complex and Mendelian traits and understanding the interactions between genes and between genes and the environment. In addition to applied work of localizing disease loci through statistical genetic methods, I am also interested in methodological research.

The methodological aspect of my work has included recently the development of the SimPed program which can stimulate haplotype and genotype data for thousands of marker loci for large complex pedigree structures. I have also examined the ability to detect genotyping error and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium (HWE) as well as studied the effect of ascertainment on deviation from HWE. Recently I examined the effect of intermarker linkage disequilibrium in consanguineous pedigrees and demonstrated that missing genotype data from any pedigree member can increase false-positive evidence of linkage. Currently, a major interest of my group is the development of methods to analyze rare variants including rare copy number variants. This research has lead to the development of the Combined Multivariate and Collapsing (CMC) and the Kernel Based Adaptive Cluster (KBAC) methods to test for rare variant associations with Complex Traits. A current project involves the development of methods to map rare variants associated with quantitative traits using data from siblings as well as unrelated individuals with extreme quantitative traits. I am also investigating strategies to replicate findings from exome sequencing studies. With the development of next generation sequencing technologies (e.g. Roche 454, Ilumina HiSeq, ABI SOLiD), a wealth of data on rare variants from both entire exomes and whole genomes will become available, making these methodological tools increasingly important.

On the applied side, I have been involved in the study of a variety of phenotypes including: opiate metabolism, pain perception, platelet reactivity, bipolar disease, prostate & breast cancer and coronary diseases (i.e. LVOTO and aneurism & dissection) and non-syndromic hearing impairment. A variety of statistical genetic methods are implemented to analyze the data including parametric and non-parametric linkage analyses and statistical methods for association studies.

I am the Principal Investigator of a study on non-syndromic hearing impairment (NSHI) which is supported by the NIH-NIDCD. The study is recruiting individuals with a family history of NSHI from Pakistan, Switzerland, Jordan, Turkey, and the United States. The major goals of the study are to localize and identify NSHI genes. Additional goals of the study include understanding genotyping/phenotype relationships and prevalence of specific loci/mutations. The study has lead to the identification of a number of genes for NSHI (ACTG1, ESRRB, GRXCR1, HFG, and WFSI) and novel loci including DFNA23, DFNA24, DFNB35, DFNB38, DFNB39, DFNB44, DFNB45, DFNB46, DFNB47, DFNB55, DFNB62, DFNB65, DFNB68 and DNFB71. The spectrum of variants and the population-specific prevalence rates have also been studied for NSHI genes: GJB2, TMC1, TMIE and TRIC.

I organize and also teach at annual gene mapping courses at the Rockefeller University (New York, NY, USA), Max Delbrück Center (Berlin, Germany) and Helmholtz Institute (Munich, Germany). Recently I have taught statistical genetics courses at Beijing University (Beijing, Peoples Republic of China), European School of Genetic Medicine (Bologna, Italy), University of Helsinki (Helsinki, Finland) and University of Oslo (Oslo, Norway).

Selected Publications

  1. Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH (2010). Missing heritability and strategies for finding the underlying causes of complex disease. Nat. Rev. Genet. 11(6): 446-50. PubMed PMID: 20479774
  2. Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H (2010). Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am. J. Hum. Genet. 86(2): 138-47. PubMed PMID: 20137778
  3. Li B, Leal SM (2009). Discovery of rare variants via sequencing: implications for the design of complex trait association studies. PLoS Genet. 5(5): e1000481. PubMed PMID: 19436704
  4. Li B, Leal SM (2008). Deviations from Hardy-Weinberg equilibrium in parental and unaffected sibling genotype data. Hum. Hered. 67(2): 104-15. PubMed PMID: 19077427
  5. Li B, Leal SM (2008). Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data. Am. J. Hum. Genet. 83(3): 311-21. PubMed PMID: 18691683
  6. Li B, Leal SM (2008). Ignoring intermarker linkage disequilibrium induces false-positive evidence of linkage for consanguineous pedigrees when genotype data is missing for any pedigree member. Hum. Hered. 65(4): 199-208. PubMed PMID: 18073490
  7. Sabeti PC, et al. (2007). Genome-wide detection and characterization of positive selection in human populations. Nature 449(7164): 913-8. PubMed PMID: 17943131
  8. International HapMap Consortium (2007). A second generation human haplotype map of over 3.1 million SNPs. Nature 449(7164): 851-61. PubMed PMID: 17943122
  9. Leal SM (2005). Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium. Genet. Epidemiol. 29(3): 204-14. PubMed PMID: 16080207
  10. Leal SM, Yan K, Muller-Myhsok B (2005). SimPed: a simulation program to generate haplotype and genotype data for pedigree structures. Hum. Hered. 60(2): 119-22. PubMed PMID: 16224189

Contact Information

Suzanne M. Leal, Ph.D.
Baylor College of Medicine
One Baylor Plaza, MS BCM225
Houston, TX, 77030, U.S.A.

Phone: 713-798-4011
Fax: 713-798-4012
Lab web site: Leal Lab

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