About Us
Learn our story and meet the team
What is 3q29 deletion syndrome?
The syndrome is the result of a 1.6 Mb (megabase) deletion on the Chromosome 3, which means that a small part of the Chromosome 3 is missing. We estimate that 1 in 30,000 people have the 3q29 deletion, which makes it relatively rare. By comparison, the prevalence of Down syndrome is 1 in 1,000 to 1 in 1,100 births.
The deletion is associated with mild to moderate intellectual disabilities, autism, anxiety disorders, and schizophrenia. Although these symptoms are associated with 3q29, not all individuals with 3q29 deletion are affected in the same way or to the same degree.
What is 3q29 duplication syndrome?
Relative to the deletion, 3q29 duplication is not as well characterized. Based upon what is known from the few individuals identified with 3q29 duplication, the syndrome may be associated with mild developmental delays. However, not all individuals with 3q29 duplication are affected in the same way or to the same degree.
Our Story
The Emory 3q29 Project unites a team of experts dedicated to understanding the phenotypic spectrum (associated characteristics), natural history, and molecular mechanism of 3q29 deletion and 3q29 duplication syndromes.
3q29 deletion syndrome is associated with a 40-fold increase in the risk for schizophrenia. It is also associated with a variety of other neurodevelopmental and neuropsychiatric outcomes, including mild to moderate intellectual disability, autism, and anxiety. Consequently, despite a relatively low prevalence (1 in 30,000), it provides an opportunity to transform our understanding of disease and lead to the development of effective treatments.
3q29 duplication syndrome is less well understood than 3q29 deletion syndrome, but also seems to be associated with intellectual disability.
A Brief History
The Emory 3q29 Project is the vision of Dr. Jen Mulle. In 2013, she started a research study devoted to these conditions and formed a family registry (3q29deletion.org).
Through the incredible generosity and support of the 3q29 Facebook Community, the registry has grown to over 100 families. This willingness by families to participate in the registry documented their commitment to participating in research, and showed that conducting large-scale research in 3q29 syndromes is feasible.
At the same time, researchers from across Emory University were coming together, forming a multidisciplinary team to investigate different aspects of the 3q29 genomic interval. The Emory 3q29 Project is a partnership between our investigators and families who are affected by 3q29 deletion and 3q29 duplication syndromes.
In April 2017, the National Institute of Mental Health (NIMH) funded the Emory 3q29 Project. Together with individuals with 3q29 syndromes and their families, we seek to understand the mechanism of 3q29 deletion and duplication syndrome and inspire additional investigators to study these conditions.
Meet The Emory Team
Jennifer Gladys Mulle, MHS, PhD
co-Principal Investigator
Assistant Professor
Department of Human Genetics
Emory University School of Medicine
jmulle@emory.edu
Gary J. Bassell, PhD
co-Principal Investigator
Professor and Chair
Department of Cell Biology
Emory University School of Medicine
gbassel@emory.edu
Katrina Aberizk
Human Phenotype Team
Graduate Student
Department of Psychology
Emory University
katrina.michelle.aberizk@emory.edu
T. Lindsey Burrell, PhD
Human Phenotype Team
Licensed Psychologist, Severe Behavior and Feeding
Assistant Professor
Department of Pediatrics
Emory University School of Medicine
lindsey.burrell@choa.org
Shanthi Cambala
Research Assistant
Families Meeting Planner
Emory University Rollins School of Public Health
shanthi.cambala@emory.edu
Tamara Caspary, PhD
Mouse Models Team
Associate Professor
Department of Human Genetics
Emory University School of Medicine
tamara.caspary@emory.edu
Joseph F. Cubells, MD, PhD
Human Phenotype Team
Associate Professor
Department of Human Genetics, and Psychiatry and Behavioral Sciences
Emory University School of Medicine
Director of Medical and Adult Services
Emory Autism Center
jcubells@genetics.emory.edu
David Cutler, PhD
Genomic Architecture Team
Associate Professor
Department of Human Genetics
Emory University School of Medicine
djcutle@emory.edu
Paul A. Dawson, PhD, FAASLD
Professor
Division of Pediatric Gastroenterology, Hepatology & Nutrition
Emory University School of Medicine
Michael P. Epstein, PhD
Molecular Team
Professor
Director, Center for Computational & Quantitative Genetics
Department of Human Genetics
Emory University School of Medicine
mpepste@emory.edu
Ryan Guest
Human Phenotype Team
Graduate Student
Department of Psychology
Emory University
Michael J. Gambello, MD, PhD
Human Phenotype Team
Associate Professor of Human Genetics and Pediatrics
Section Chief
Division of Medical Genetics
Emory University School of Medicine
michael.j.gambello@emory.edu
Sandra M. Goulding, PhD, MPH
Human Phenotype Team
Licensed Clinical Psychologist
sandra.m.goulding@emory.edu
Henry R. (Rich) Johnston, PhD
Genomic Architecture Team
Postdoctoral Fellow
Department of Human Genetics
Emory University School of Medicine
henry.johnston@emory.edu
Cheryl Klaiman, PhD
Human Phenotype Team
Senior Psychologist, Research
Associate Professor
Department of Pediatrics
Emory University School of Medicine
cheryl.klaiman@emory.edu
Sookyong Koh, MD, PhD
Human Phenotype
Pediatric Epileptologist, Children’s Healthcare of Atlanta
Associate Professor, Emory University School of Medicine
Inaugural Marcus Professor
sookyong.koh@emory.edu
Elizabeth J. Leslie, PhD
Human Phenotype
Assistant Professor
Department of Human Genetics
Emory University School of Medicine
ejlesli@emory.edu
Michael Mortillo, MPH
Human Phenotype
Graduate Student
Genetics & Molecular Biology
Emory University School of Medicine
michael.mortillo@emory.edu
Trenell Mosley
Genomic Architecture Team
Graduate Student
Genetics & Molecular Biology
Emory University School of Medicine
trenell.mosley@emory.edu
Melissa M. Murphy, PhD
Human Phenotype Team
Family Outreach and Engagement
Associate Scientist
Department of Human Genetics
Emory University School of Medicine
melissa.murphy@emory.edu
Becky Pollak
Microbiome and Metabolome Team
Graduate Student
Genetics & Molecular Biology
Emory University School of Medicine
rebecca.pollak@emory.edu
Ryan Purcell, PhD
Molecular Team
Postdoctoral Fellow
Department of Cell Biology
Emory University School of Medicine
ryan.purcell@emory.edu
Tim Rutkowski, PhD
Mouse Models Team
Postdoctoral Fellow
Department of Human Genetics
Emory University School of Medicine
timothy.rutkowski@emory.edu
Rossana Sanchez, MD
Human Phenotype Team
Assistant Professor of Human Genetics
Division of Medical Genetics
Emory University School of Medicine
Rossana.sanchez@emory.edu
Jason Schroeder, PhD
Mouse Models Team
Department of Human Genetics
Emory University School of Medicine
schroeder@genetics.emory.edu
Esra Sefik
Human Phenotype Team
Molecular Team
Mouse Models Team
Sarah Shultz, PhD
Human Phenotype Team
Co-Director, Neuroimaging Core
Assistant Professor
Department of Pediatrics
Emory University School of Medicine
sarah.shultz@emory.edu
Elaine F. Walker, PhD
Human Phenotype Team
Samuel Candler Dobbs Professor of Psychology and Neuroscience
Department of Psychology
Emory University
psyefw@emory.edu
Stephen T Warren, PhD, FACMG
Mouse Models Team
William Patterson Timmie Professor of Human Genetics
Charles Howard Candler Chair in Human Genetics
Chairman, Department of Human Genetics
Professor, Biochemistry and Pediatrics
swarren@emory.edu
David Weinshenker, PhD
Mouse Models Team
Professor, Department of Human Genetics
Director, Neuroscience Graduate Program
Scientific Director, Rodent Behavioral Core
dweinshenker@genetics.emory.edu
Zhexing Wen, PhD
Molecular Team
Assistant Professor
Department of Psychiatry and Behavioral Sciences
Emory University School of Medicine
zhexing.wen@emory.edu
Michael E Zwick, PhD
Microbiome and Metabolome Team
Genomic Architecture Team
Associate Professor
Departments of Human Genetics and Pediatrics
Assistant Dean of Research
Emory University School of Medicine
Assistant Vice President for Research
Robert W. Woodruff Health Sciences Center
mzwick@emory.edu
The Emory 3q29 Project ♦ Department of Human Genetics ♦ Emory University School of Medicine
615 Michael St, Suite 301 ♦ Atlanta, GA 30322 ♦ 404.727.3446