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?
This syndrome results from a duplication of a small section of the Chromosome 3, which means that extra genetic material is present. It occurs very rarely in the population, and so is not yet well understood.

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

ryan.matson.guest@emory.edu 

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

Bryan Mak

Human Phenotype

Graduate Student
Genetic Counseling
Emory University
bryan.mak@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

Celine Saulnier, PhD

Human Phenotype Team

Licensed Clinical Psychologist
celine.saulnier@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

Neuroscience Graduate Student
Graduate Division of Biological and Biomedical Sciences

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