Andrew Escayg, Ph.D.
Assistant Professor
aescayg@genetics.emory.edu
404.712.8328
Office: 361
Lab: 365
Whitehead Biomedical Research Building
615 Michael St.
Atlanta, GA 30322

PubMed search for Dr. Andrew Escayg

Areas of Specialization/Research Interests:
The genetics of neurological disorders (Neurogenetics)
Human and mouse genetics
Disease gene identification
The generation of mouse models of human disease
The role of ion channel genes in disease
Genome analysis/bioinformatics

Education:
1997-2002 Postdoctoral training, Department of Human Genetics, University of Michigan
1995 Ph.D., Molecular Genetics, Lincoln University, New Zealand
1990 M.S., Analytical Chemistry, The University of the West Indies, Trinidad
1987 B.S., Chemistry, The University of the West Indies, Trinidad

Professional Memberships and Activities:
The American Society of Human Genetics
The American Epilepsy Society

Research Description:
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 disease and the disorders that we are currently working on include epilepsy, ataxia and other movement disorders, and migraine. 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. We use two experimental approaches. 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. Using these approaches we have identified several new mutations in the voltage-gated sodium channel gene, SCN1A, that is responsible for two forms of dominant epilepsy; Generalized Epilepsy with Febrile Seizures Plus (GEFSP2) and Severe Myoclonic Epilepsy of Infancy (SMEI). GEFSP2 is characterized by febrile (fever induced) seizures that persist beyond the age of six and the development of adult epilepsy. SMEI is a severe, debilitating childhood epilepsy characterized by febrile and afebrile seizures, mental retardation and ataxia.

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 have used this approach to generate transgenic and knock-in mice that carry human epilepsy mutations. These mice reproduce many features of the human disease and are currently under investigation in our lab. We are also planning to generate additional mouse models of human disease.

We also use mice to identify potentially important human disease genes. These studies begin with a mouse that has a phenotype that is similar to that observed in some patients. By using a variety of techniques we attempt to identify the gene that is mutated in the mouse. This approach is called positional cloning. Once the mouse gene is identified, then we can test the corresponding human gene in suitable patients. We are currently positionally cloning mouse mutants that exhibit a variety of movement disorders as well as epilepsy.

Genomics/bioinformatics
The completion of the human genome project and the availability of genomic sequences from an increasing number of species provide a unique opportunity to understand the organization of the human genome. We are particularly interested in understanding the genetic elements that regulate the expression levels of identified disease genes. This component of our research requires the use of bioinformatics and sequence analysis techniques.