Human Phenotype

Graduate Student
Department of Psychology
Emory University
katrina.michelle.aberizk@emory.edu

Licensed Psychologist, Severe Behavior and Feeding
Assistant Professor
Department of Pediatrics
Emory University School of Medicine
lindsey.burrell@choa.org

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

Associate Professor of Human Genetics and Pediatrics
Section Chief
Division of Medical Genetics
Emory University School of Medicine
michael.j.gambello@emory.edu

Licensed Clinical Psychologist

sandra.m.goulding@emory.edu

Graduate Student
Department of Psychology
Emory University

ryan.matson.guest@emory.edu

Senior Psychologist, Research
Associate Professor
Department of Pediatrics
Emory University School of Medicine
cheryl.klaiman@emory.edu

Pediatric Epileptologist, Children’s Healthcare of Atlanta
Associate Professor
Emory University School of Medicine
Inaugural Marcus Professor

sookyong.koh@emory.edu

Assistant Professor
Department of Human Genetics
Emory University School of Medicine

ejlesli@emory.edu

Graduate Student
Genetics & Molecular Biology
Emory University School of Medicine
michael.mortillo@emory.edu

Graduate Student
Genetic Counseling
Emory University
bryan.mak@emory.edu

Assistant Professor
Department of Human Genetics
Emory University School of Medicine
jmulle@emory.edu

Associate Scientist
Department of Human Genetics
Emory University School of Medicine
melissa.murphy@emory.edu

Assistant Professor of Human Genetics
Division of Medical Genetics
Emory University School of Medicine
Rossana.sanchez@emory.edu

Licensed Clinical Psychologist
celine.saulnier@emory.edu

Neuroscience Graduate Student
Graduate Division of Biological and Biomedical Sciences

Co-Director, Neuroimaging Core
Assistant Professor
Department of Pediatrics
Emory University School of Medicine
sarah.shultz@emory.edu

Samuel Candler Dobbs Professor of Psychology and Neuroscience
Department of Psychology
Emory University
psyefw@emory.edu

The Human Phenotype Project seeks to better understand the characteristics of people with 3q29 deletion and duplication syndromes, how they develop over time, and pathways towards effective treatment.

We do this by measuring behavior in 4 domains that can inform our understanding of the characteristics (phenotype) associated with the syndromes: anxiety, cognitive ability, autism spectrum, and presence of psychosis or prodromal symptoms, which are sometimes early features of schizophrenia.

Systematic study of the effects of 3q29 deletion and duplication syndromes provides a basis to consistently evaluate the effects of the syndromes at specific ages and over time, which is crucial information for parents and professionals who support individuals with 3q29 syndromes. It also provides a basis for assessing the effectiveness of future therapies or interventions.

Understanding the effects on people also complements efforts in our other projects to understand and characterize the syndromes at the cellular and molecular levels. With this multi-dimensional approach to understanding these syndromes, it is possible to investigate how variability of behavioral characteristics reflects or relates to variability at the cellular or molecular level.  In doing so, we seek to identify general mechanisms of neuropsychiatric disorders and develop pathways towards effective treatment.

The Emory 3q29 Project ♦ Department of Human Genetics ♦ Emory University School of Medicine

615 Michael St, Suite 301 ♦ Atlanta, GA 30322 ♦ 404.727.3446 ♦ 3q29project@emory.edu