Individual Student Views - 2005

Kirk Lohmueller
Clark/Bustamante Labs
G&D (Entered Fall 2005)

East Hampstead, NH
Undergraduate: Georgetown University, Washington, DC; BS (Biology) in 2005

Statement

I came to Cornell University because of the strong program in evolutionary biology and population genetics.  Cornell is rather unique in that it has really top-notch people working on both theoretical and applied population genetics.  In addition to the strong population genetics community, Cornell offers wide variety of quality courses.  When I came to Cornell, my main interests were in analyzing human genetic variation to better understand disease and evolution.  However, now as a result of excellent coursework and interacting with my colleagues, I am becoming more interested in the theoretical issues underlying these topics.

Also, having lived in Washington, DC for four years prior to coming to Cornell, I needed a change from a big city.  Ithaca has been a wonderful place for graduate school.  It is clean, quiet, free of traffic, and very affordable.

The Field of Genetics and Development is quite special as well.  The Field structure allows students to have multiple advisers in different departments, allowing for true interdisciplinary research.

Research

My research focuses on using genetic variation to understand human evolution and susceptibility to disease.  Most of my recent work has involved analyzing genetic variation from different populations, and then using theoretical models to estimate evolutionary parameters or determine if certain models are sufficient to explain the patters we see in data.

I am especially interested in understanding how the evolutionary history of a population has impacted risk to disease.  Recently, I have examined the effect of the Out-of-Africa bottleneck on the proportion of deleterious alleles in European populations.  I plan to extend this work to isolated populations.  In particular, I am interested in estimating demographic parameters of isolated populations and in understanding how demography has influenced the number of disease alleles in these populations.

Finally, I am working on other projects focused on human evolution.  In particular, I am estimating the genome-wide distribution of the time to the most recent common ancestor of humans, which will be informative as to whether humans evolved from a single panmictic population, or from a more structured population.

Awards

NSF Graduate Research Fellowship

Publications

Lohmueller KE, Indap AI, Schmidt S, Boyko A, Hernandez RD, Hubisz MJ, Sunyaev S, Nielsen R, Clark AG, and Bustamante CD.  “Out-of-Africa” genetic load: Proportionally more deleterious variation in European than in African populations.  Submitted.

Lohmueller KE, Wong LJ, Mauney MM, Jiang L, Felder RA, Jose PA, and Williams SM.  (2006) Patterns of genetic variation in the hypertension candidate gene GRK4: ethnic variation and haplotype structure.  Ann Hum Genet. 70:27-41.

Lohmueller KE,  Mauney MM, Reich D, and Braverman JM. (2006) Variants associated with common disease are not unusually differentiated in frequency across populations. Am J Hum Genet. 78:130-136.

Patterson N, Hattangadi N, Lane B, Lohmueller KE, Hafler DA, Oksenberg JR, Hauser SL, Smith MW, O’Brien JS, Altshuler D, Daly MJ, and Reich D. (2004) Methods for high-density admixture mapping of disease genes. Am J Hum Genet. 74:979:1000

Lohmueller KE, Pearce CL, Pike M, Lander ES, and Hirschhorn JN. (2003) Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease.  Nat Genet. 33: 177-182.

Hirschhorn JN, Lohmueller K, Byrne E, and Hirschhorn K. (2002) A comprehensive review of genetic association studies.  Genet Med. 4:45-61.

Conference Presentations

Beyond HapMap (Cambridge, MA, May 2006) Analysis of SNP transmission patterns across the human genome in HapMap trios.  Poster presentation.

Genomes, Evolution, and Bioinformatics (Tempe, AZ, May 2006) Analysis of SNP transmission patterns across the human genome in HapMap trios.  Poster presentation.

The Biology of Genomes (Cold Spring Harbor, NY, May 2007)  “Out-of-Africa” genetic load: Proportionally more deleterious variation in European than in African populations.  Platform presentation.

Gordon Research Conference: Human Genetics & Genomics (Newport, RI, July 2007)  “Out-of-Africa” genetic load: Proportionally more deleterious variation in European than in African populations.  Poster presentation.