David E. Bergstrom, Ph.D.

Research Scientist

Researches inner ear development and the genetics underlying vestibular function dysfunction, as well as dwarfism and skeletal malformation.

The JAX Cancer Center

Contact me at: 207-288-6609

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About David E. Bergstrom, Ph.D.

My research group studies mouse models with vestibular (inner ear) defects that may provide insights into balance disorders in humans. I am focusing on mutations that affect the structure and function of the otolithic end organs, small inner-ear structures that act as linear acceleration and gravity receptors. We have identified and characterized genes that are defective in head-tilt (het), head-slant (hslt), and neuromutagenesis facility (nmf) 333 mutant mice, each of which encodes an NADPH oxidase component. Thus, we've hypothesized that a previously unknown inner ear NADPH oxidase complex is necessary for proper development and function of the vestibular system.

I am also studying a mouse model that exhibits sex reversal, craniofacial defects and shortening of the limbs characteristic of some forms of human dwarfism. We have narrowed the genetic defect to a region on mouse Chromosome 7 and are analyzing that region of the genome with the goal of better understanding dwarfism and certain skeletal malformation syndromes in humans.

Education and experience

Education

The Jackson Laboratory
Postdoctoral Fellow
Adv: Dr. Eva M. Eicher
1996-1999

The Jackson Laboratory
Postdoctoral Trainee
Adv: Dr. Elizabeth M. Simpson
1994-1995

University of Illinois at Urbana-Champaign
Ph.D., biology (molecular genetics)
1994

University of Illinois at Urbana-Champaign
M.S., biology
1990

Illinois State University
B.S., biological sciences
1985

Experience

The Jackson Laboratory
Research scientist/Animal models of human disease, Mouse Mutant Resource, Genetic Resource Science
2006-present

The Jackson Laboratory
Research scientist
2004-2005

The Jackson Laboratory
Associate research scientist/research scientist
1999-2004

Grants, Honors, and Accomplishments

NASA Certificate of Appreciation
Space Shuttle Endeavor STS-108
2001

School of Life Sciences Fellowship
University of Illinois
1986

Selected Publications

Highlighted Abstract

Spontaneously arising mouse mutations have served as the foundation for understanding gene function for more than 100 years. We have used exome sequencing in an effort to identify the causative mutations for 172 distinct, spontaneously arising mouse models of Mendelian disorders, including a broad range of clinically relevant phenotypes. To analyze the resulting data, we developed an analytics pipeline that is optimized for mouse exome data and a variation database that allows for reproducible, user-defined data mining as well as nomination of mutation candidates through knowledge-based integration of sample and variant data. Using these new tools, putative pathogenic mutations were identified for 91 (53%) of the strains in our study. Despite the increased power offered by potentially unlimited pedigrees and controlled breeding, about half of our exome cases remained unsolved. Using a combination of manual analyses of exome alignments and whole-genome sequencing, we provide evidence that a large fraction of unsolved exome cases have underlying structural mutations. This result directly informs efforts to investigate the similar proportion of apparently Mendelian human phenotypes that are recalcitrant to exome sequencing.

View full list of publications

Tech CornerJuly 23, 2018
Developing better gene editing technology
New CRISPR technology will be used to more quickly develop mouse models for gastric cancer, Down syndrome and other applications.

Blog PostMarch 01, 2016
Collectively, rare diseases are not so rare
A team from The Jackson Laboratory attended a Rare Disease Day 2016 event in Maine to help educate state legislators and staff about the challenges of living with rare diseases, and how JAX is empowering the scientific and medical communities to combat these diseases.