Andrew P. Escayg, PhD

Professor, Department of Human Genetics, School of Medicine

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Graduate Programs

Full Member - Genetics and Molecular Biology
Full Member - Neuroscience

Education

PhD, Lincoln University, 1995
MPhil, The University of the West Indies, 1990

Contact Information

Email: aescayg@emory.edu

Phone: 404-712-8328

Address:
Whitehead Biomedical Research Building, Room 361 615 Michael Street Atlanta, GA 30322 1941-001-1AE

Our lab uses a combination of human and mouse genetics, mouse disease models and genome analysis/bioinformatics in order to determine the molecular basis of inherited neurological disorders. We have a broad interest in neurological/neuropsychiatric diseases and we are currently working on epilepsy and associated developmental and neuropsychiatric co-morbidites such as intellectual disability, autism, schizophrenia, and Alzheimer's disease.

The long-term goal of our research is to develop better diagnostic tools and more effective therapeutic agents. Of particular interest to us is the role of voltage-gated ion channels in disease. Voltage-gated ion channels play a critical role in neuronal signaling and the maintenance of normal nervous system function. Diseases that result from mutations in ion channel genes are called channelopathies. Channelopathies underlie a wide range of disorders that include cardiac and skeletal muscle defects and neurological disorders such as epilepsy.

Our research can be divided into a number of different components.

Human disease gene identification and analysis:
One component of our research is the identification of genes responsible for inherited human neurological disorders such as epilepsy. If we suspect that a known gene is mutated in the family then the candidate gene is directly screened for novel mutations. If we suspect that a novel gene may be responsible, then we use a variety of genetic techniques in order to identify the novel disease gene. We are also working with the Emory Genetics Lab in order to analyze sequence data from epilepsy patients that are referred for genetic testing. Using these approaches we are identifying many novel disease mutations as well as new disease genes. Follow up analyses on these findings is providing the opportunity for new research projects. Genes that we are currently working on include: SCN1A, SCN8A, ATP6V0C, BAI1, BCL11A.

Mouse genetics:
Understanding the mechanisms that lead to disease is an important step towards the development of improved therapies. In order to understand how specific mutations cause disease, mice carrying specific human mutations can be generated. We are using this approach to generate mouse models that carry identified human epilepsy mutations. These mice reproduce many features of the human disease and are currently under investigation for seizure phenotypes and neuropsychiatric abnormalities.

Development of novel treatments for epilepsy
Approximately 30% of patients with epilepsy do not achieve effective seizure control with available anti-epilepsy medications. In addition, many patients with epilepsy experience neuropsychiatric co-morbidites such as anxiety, depression and altered sleep architecture, which can have a profound impact on quality of life. We are actively involved in evaluating the efficacy of alternative treatments and novel pharmaceutical compounds. We are also exploring the use of nanoparticles for the delivery of neuropeptides to the brain. We are also studying the role of brain derived extracellular vesicles (BDEVs) in epilepsy.