Research

The All of Us Research Program aims to build a participant community that reflects the rich diversity of the U.S. and to integrate a broad set of data types. By doing so, researchers will gain a greater understanding of the individual differences that affect health.

The Emory Cleft Project is dedicated to the identification of genes and environmental factors involved in orofacial clefts (e.g. cleft lip and palate). These birth defects are among the most common structural birth and impact 1 in 700 individuals worldwide.

Specific disorders addressed in this project are non-syndromic orofacial clefts (i.e., cleft lip and/or palate that occurs in isolation), syndromic forms of orofacial clefts, and other related disorders. A combination of statistical techniques coupled with molecular biology and genetic tools will allow us to identify genetic variants that may contribute to cleft formation.

The Center of Computational and Quantitative Genetics (CCQG) is a highly interdisciplinary program that seeks to catalyze research and training across Emory University at the interface between statistical/computational sciences and human genetics.

The vision of the CCQG is to create an intellectual home for quantitative and computational scientists to collaborate on ongoing topics in genetics-oriented precision medicine efforts.

Our mission is to learn more about 3q29 Deletion Syndrome and 3q29 Duplication Syndrome and improve the quality of care for individuals with this diagnosis. Because the 3q29 Deletion and 3q29 Duplication are so rare, it is difficult for medical practitioners, families, and individuals to know what to expect.  Our goal is to create a resource for families and professionals to address this gap in knowledge.

The National Fragile X Center at Emory is focused on improving the lives of people with Fragile X-Associated Disorders through research, clinical care, and education. At Emory, we have been involved in this goal since the alteration (called mutation) of the FMR1 gene was first identified by Dr. Stephen Warren in the early 1990s as the leading cause of fragile X syndrome.  Most recently, the National Institutes of Health has provided additional support for this Center to support its work. This makes Emory one of the three National Fragile X Centers in the U.S. These Centers are committed to working together to make rapid progress towards prevention and treatment of fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI).

Classic galactosemia is a rare genetic disorder that results from a deficiency of the enzyme galactose-1-P uridylyltransferase. Classic galactosemia is identified by newborn screening in about 80 babies born each year in the US. Thanks to early detection and rapid and life-long dietary restriction of galactose, which is the current standard of care, most babies with classic galactosemia are spared the potentially lethal acute consequences of the disease, but unfortunately, most grow to experience a constellation of developmental and other long-term complications. There is currently no intervention available that prevents or reverses these problems.  Our goal is to change that.

The purpose of the Genetics and Autism research project is to learn more about possible genetic causes of autism in families that have only one child affected with a known Autism Spectrum Disorder (ASD).  Families have an opportunity to contribute to our growing knowledge of ASDs by participating, which involves a diagnostic assessment of the child with ASD, parent interviews, completion of questionnaires about family members, and giving a blood sample. A telephone screening will be done to determine eligibility.

Genetic Clinical Trials Center (GCTC) is dedicated to the study and development of novel therapies for our patients with rare diseases. We work closely with industry sponsors that have developed innovative treatments to conduct a variety of clinical trials, from phase II through IV. The GCTC is an important national site for over 20 clinical trials, with many more in the pipeline.

Epilepsy is one of the most common neurological conditions, affecting 1-2% of the population. Epilepsy is a set of brain disorders in which a person experiences a periodic disruption or change in the normal activity of neurons (nerve cells in the brain). These disruptions are known as seizures and can result in loss of consciousness, convulsions, and altered behaviors or sensations. Seizures can have a profound negative impact on the health and quality of life of the person experiencing them.

The mission of the Emory Lysosomal and Peroxisomal Storage Disease Center (Emory LSDC) in Atlanta, Georgia is to provide comprehensive diagnostic, evaluation, management, treatment, and cutting edge research services for patients and families living with LSDs and related genetic diseases in order to maximize health outcomes and quality of life.

The purpose of these studies is to determine how often otherwise unexplained developmental disabilities, birth defects and/or pregnancy losses are due to subtle (or very small) chromosome abnormalities. Individuals with a developmental disability may have learning difficulties, mental retardation, behavioral problems (such as autism) or other characteristics. Individuals with birth defects may have a heart defect, cleft lip, cleft palate, spina bifida (hole in the spine) as well as other defects.