My laboratory uses cutting-edge genomics technologies to identify rare genetic variation that contributes to common pediatric disorders. My main areas of interest include autism, congenital heart defects in Down syndrome, early-onset Inflammatory Bowel Disease (IBD), and juvenile arthritis. We also have developed software to aid in the analysis of our research projects. Current projects include:
Identifying Autism Susceptibility Genes: I am a member of the Autism Sequencing Consortium, a large international group that is using large scale, high throughput sequencing to identify autism susceptibility genes. I also co-direct the ASC membership committee with Jim Sutcliffe. For more information about the ASC, see:
Autism Sequencing Consortium
Copy Number Variation as a Cause of Congenital Heart Defects in Down Syndrome (P. I.): The genetic causes of congenital heart defects (CHD) remain largely undiscovered. Individuals with trisomy 21, the cause of Down Syndrome, have much higher rates of CHD, including the very severe atrioventricular septal defects (AVSD). Our project aims to identify both structural genetic variation and common single nucleotide polymorphisms that act to increase the risk of AVSD. Identifying the genetic basis of this disorder can provide insights into the origins of CHD and ultimately lead to improved methods of treatment and prevention.This work is funded by both the National Institutes of Health/National Heart, Lung and Blood Institute (http://www.nhlbi.nih.gov/)
Early-onset forms of Inflammatory Bowel Disease (IBD): With collaborators Subra Kugathasan and David Cutler.
Juvenile Arthritis: With collaborators Sampath Prahal, Michale Epstein, Karen Conneely
International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome: We are performing whole genome sequencing on 600 individual with 22Q11.2 DS to identify genes that may contribute to schizophrenia.
Software Tools We Have Developed With Collaborators:
SeqAnt - Sequence Annotator (http://seqant.genetics.emory.edu/)
MOPed - Microarray Oligonucleotide Probe Designer (http://moped.genetics.emory.edu/)
Emory Integrated Genomics Core (EIGC)
I am the scientific director for the Emory Integrated Genomics Core at Emory University.
Areas of Specialization / Research Interests
Pediatric Genetics, Human Disease Gene Mapping
Population Biology, Population Genetics, Population Genomics
Methods of Targeted Enrichment and Next Generation Sequencing
Open Source Software Tools for Genomics
My Graduate Programs at Emory
Director of the Curriculum Committee
Graduate Program in Population Biology, Ecology and Evolution (PBEE)
Graduate Program in Genetics and Molecular Biology (GMB)
2000 - 2002 Postdoctoral Fellow, Johns Hopkins University School of Medicine
1999 - 2000 Postdoctoral Fellow, Case Western Reserve University School of Medicine
1993 - 1998 Ph.D., University of California at Davis, Davis, CA
1985 - 1989 B.S., Cornell University, Ithaca, NY
2014 - Present American Society of Human Genetics Planning Committee
A complete listing of my publication can be found on Google Scholar.
Google Scholar: Michael E. Zwick